MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 8 transcript(s)...
Querying Taster for transcript #1: ENST00000295956
Querying Taster for transcript #2: ENST00000490882
Querying Taster for transcript #3: ENST00000358537
Querying Taster for transcript #4: ENST00000429972
Querying Taster for transcript #5: ENST00000493452
Querying Taster for transcript #6: ENST00000348383
Querying Taster for transcript #7: ENST00000357272
Querying Taster for transcript #8: ENST00000419752
MT speed 0 s - this script 5.521737 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
FLNB	disease_causing_automatic	0.999996549572086	simple_aae		affected	0	L65V	single base exchange	rs80356507		show file
FLNB	disease_causing_automatic	0.999996549572086	simple_aae		affected	0	L65V	single base exchange	rs80356507		show file
FLNB	disease_causing_automatic	0.999999433844178	simple_aae		affected	0	L234V	single base exchange	rs80356507		show file
FLNB	disease_causing_automatic	0.999999433844178	simple_aae		affected	0	L234V	single base exchange	rs80356507		show file
FLNB	disease_causing_automatic	0.999999433844178	simple_aae		affected	0	L234V	single base exchange	rs80356507		show file
FLNB	disease_causing_automatic	0.999999433844178	simple_aae		affected	0	L234V	single base exchange	rs80356507		show file
FLNB	disease_causing_automatic	0.999999433844178	simple_aae		affected	0	L234V	single base exchange	rs80356507		show file
FLNB	disease_causing_automatic	0.999999433844178	simple_aae		affected	0	L234V	single base exchange	rs80356507		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999996549572086 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM070930)
known disease mutation: rs21296 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:58067416C>GN/A show variant in all transcripts IGV

HGNC symbol

FLNB

Ensembl transcript ID

ENST00000493452

Genbank transcript ID

N/A

UniProt peptide

O75369

alteration type

single base exchange

alteration region

CDS

DNA changes

c.193C>G
cDNA.350C>G
g.73290C>G

AA changes

L65V Score: 32 explain score(s)

position(s) of altered AA
if AA alteration in CDS

frameshift

known variant

Reference ID: rs80356507
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs21296 (pathogenic for Larsen syndrome) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM070930)

known disease mutation at this position, please check HGMD for details (HGMD ID CM070930)
known disease mutation at this position, please check HGMD for details (HGMD ID CM070930)

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
Promoter Associated, Regulatory Feature, Promoter like regulatory feature

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.571	1
	3.554	1
(flanking)	5.193	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor increased	73284	wt: 0.30 / mu: 0.98	wt: TTATGACTTACCTGT mu: TTATGACTTACGTGT	ATGA\|ctta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000015054

234

Mmulatta

all identical

ENSMMUG00000000706

234

Fcatus

no alignment

ENSFCAG00000006518

n/a

Mmusculus

all identical

ENSMUSG00000025278

234

Ggallus

all identical

ENSGALG00000005678

137

Trubripes

all identical

ENSTRUG00000005042

235

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000008663

234

protein features

start (aa)	end (aa)	feature	details
1	239	DOMAIN	Actin-binding.	lost
16	122	DOMAIN	CH 1.	lost
73	89	HELIX		might get lost (downstream of altered splice site)
99	103	HELIX		might get lost (downstream of altered splice site)
107	122	HELIX		might get lost (downstream of altered splice site)
139	239	DOMAIN	CH 2.	might get lost (downstream of altered splice site)
141	152	HELIX		might get lost (downstream of altered splice site)
163	165	HELIX		might get lost (downstream of altered splice site)
169	178	HELIX		might get lost (downstream of altered splice site)
186	188	HELIX		might get lost (downstream of altered splice site)
194	208	HELIX		might get lost (downstream of altered splice site)
217	220	HELIX		might get lost (downstream of altered splice site)
227	234	HELIX		might get lost (downstream of altered splice site)
236	239	HELIX		might get lost (downstream of altered splice site)
249	347	REPEAT	Filamin 1.	might get lost (downstream of altered splice site)
349	446	REPEAT	Filamin 2.	might get lost (downstream of altered splice site)
447	543	REPEAT	Filamin 3.	might get lost (downstream of altered splice site)
519	519	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
544	636	REPEAT	Filamin 4.	might get lost (downstream of altered splice site)
640	736	REPEAT	Filamin 5.	might get lost (downstream of altered splice site)
658	658	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
681	681	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
737	839	REPEAT	Filamin 6.	might get lost (downstream of altered splice site)
816	816	CONFLICT	A -> T (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
840	938	REPEAT	Filamin 7.	might get lost (downstream of altered splice site)
886	886	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
924	924	CONFLICT	Y -> H (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
939	1034	REPEAT	Filamin 8.	might get lost (downstream of altered splice site)
983	983	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1028	1028	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1035	1127	REPEAT	Filamin 9.	might get lost (downstream of altered splice site)
1040	1042	HELIX		might get lost (downstream of altered splice site)
1044	1047	STRAND		might get lost (downstream of altered splice site)
1048	1051	HELIX		might get lost (downstream of altered splice site)
1052	1054	STRAND		might get lost (downstream of altered splice site)
1059	1064	STRAND		might get lost (downstream of altered splice site)
1066	1068	TURN		might get lost (downstream of altered splice site)
1073	1077	STRAND		might get lost (downstream of altered splice site)
1079	1081	STRAND		might get lost (downstream of altered splice site)
1084	1089	STRAND		might get lost (downstream of altered splice site)
1091	1100	STRAND		might get lost (downstream of altered splice site)
1102	1115	STRAND		might get lost (downstream of altered splice site)
1122	1128	STRAND		might get lost (downstream of altered splice site)
1128	1222	REPEAT	Filamin 10.	might get lost (downstream of altered splice site)
1128	1511	REGION	Interaction with FBLP1.	might get lost (downstream of altered splice site)
1133	1135	HELIX		might get lost (downstream of altered splice site)
1136	1140	STRAND		might get lost (downstream of altered splice site)
1141	1143	HELIX		might get lost (downstream of altered splice site)
1154	1160	STRAND		might get lost (downstream of altered splice site)
1166	1172	STRAND		might get lost (downstream of altered splice site)
1173	1175	TURN		might get lost (downstream of altered splice site)
1179	1184	STRAND		might get lost (downstream of altered splice site)
1188	1195	STRAND		might get lost (downstream of altered splice site)
1200	1208	STRAND		might get lost (downstream of altered splice site)
1217	1223	STRAND		might get lost (downstream of altered splice site)
1223	1322	REPEAT	Filamin 11.	might get lost (downstream of altered splice site)
1232	1235	STRAND		might get lost (downstream of altered splice site)
1236	1239	HELIX		might get lost (downstream of altered splice site)
1249	1254	STRAND		might get lost (downstream of altered splice site)
1256	1258	STRAND		might get lost (downstream of altered splice site)
1273	1275	STRAND		might get lost (downstream of altered splice site)
1281	1284	STRAND		might get lost (downstream of altered splice site)
1286	1294	STRAND		might get lost (downstream of altered splice site)
1300	1310	STRAND		might get lost (downstream of altered splice site)
1316	1316	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1317	1321	STRAND		might get lost (downstream of altered splice site)
1323	1415	REPEAT	Filamin 12.	might get lost (downstream of altered splice site)
1332	1335	STRAND		might get lost (downstream of altered splice site)
1336	1339	HELIX		might get lost (downstream of altered splice site)
1347	1352	STRAND		might get lost (downstream of altered splice site)
1354	1356	TURN		might get lost (downstream of altered splice site)
1361	1369	STRAND		might get lost (downstream of altered splice site)
1374	1377	STRAND		might get lost (downstream of altered splice site)
1379	1381	STRAND		might get lost (downstream of altered splice site)
1383	1387	STRAND		might get lost (downstream of altered splice site)
1393	1401	STRAND		might get lost (downstream of altered splice site)
1410	1416	STRAND		might get lost (downstream of altered splice site)
1411	1411	CONFLICT	F -> L (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
1416	1511	REPEAT	Filamin 13.	might get lost (downstream of altered splice site)
1425	1428	STRAND		might get lost (downstream of altered splice site)
1429	1431	TURN		might get lost (downstream of altered splice site)
1433	1433	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1441	1446	STRAND		might get lost (downstream of altered splice site)
1448	1450	TURN		might get lost (downstream of altered splice site)
1455	1460	STRAND		might get lost (downstream of altered splice site)
1462	1464	STRAND		might get lost (downstream of altered splice site)
1475	1483	STRAND		might get lost (downstream of altered splice site)
1489	1501	STRAND		might get lost (downstream of altered splice site)
1505	1505	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1506	1512	STRAND		might get lost (downstream of altered splice site)
1512	1608	REPEAT	Filamin 14.	might get lost (downstream of altered splice site)
1517	1519	HELIX		might get lost (downstream of altered splice site)
1520	1524	STRAND		might get lost (downstream of altered splice site)
1525	1527	HELIX		might get lost (downstream of altered splice site)
1530	1530	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
1538	1546	STRAND		might get lost (downstream of altered splice site)
1557	1557	MOD_RES	Phosphothreonine (By similarity).	might get lost (downstream of altered splice site)
1560	1560	CONFLICT	E -> G (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
1566	1570	STRAND		might get lost (downstream of altered splice site)
1573	1580	STRAND		might get lost (downstream of altered splice site)
1586	1590	STRAND		might get lost (downstream of altered splice site)
1593	1596	STRAND		might get lost (downstream of altered splice site)
1602	1602	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1603	1609	STRAND		might get lost (downstream of altered splice site)
1609	1704	REPEAT	Filamin 15.	might get lost (downstream of altered splice site)
1618	1621	STRAND		might get lost (downstream of altered splice site)
1622	1624	HELIX		might get lost (downstream of altered splice site)
1625	1639	STRAND		might get lost (downstream of altered splice site)
1641	1643	STRAND		might get lost (downstream of altered splice site)
1648	1653	STRAND		might get lost (downstream of altered splice site)
1663	1666	STRAND		might get lost (downstream of altered splice site)
1672	1677	STRAND		might get lost (downstream of altered splice site)
1682	1692	STRAND		might get lost (downstream of altered splice site)
1684	1684	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
1699	1705	STRAND		might get lost (downstream of altered splice site)
1705	1728	REGION	Hinge 1 (By similarity).	might get lost (downstream of altered splice site)
1729	1813	REPEAT	Filamin 16.	might get lost (downstream of altered splice site)
1748	1750	STRAND		might get lost (downstream of altered splice site)
1759	1765	STRAND		might get lost (downstream of altered splice site)
1775	1778	STRAND		might get lost (downstream of altered splice site)
1780	1782	STRAND		might get lost (downstream of altered splice site)
1784	1787	STRAND		might get lost (downstream of altered splice site)
1792	1804	STRAND		might get lost (downstream of altered splice site)
1811	1816	STRAND		might get lost (downstream of altered splice site)
1816	1908	REPEAT	Filamin 17.	might get lost (downstream of altered splice site)
1825	1828	STRAND		might get lost (downstream of altered splice site)
1829	1832	HELIX		might get lost (downstream of altered splice site)
1833	1835	STRAND		might get lost (downstream of altered splice site)
1840	1845	STRAND		might get lost (downstream of altered splice site)
1854	1862	STRAND		might get lost (downstream of altered splice site)
1862	2148	REGION	Interaction with the cytoplasmic tail of GP1BA.	might get lost (downstream of altered splice site)
1872	1881	STRAND		might get lost (downstream of altered splice site)
1888	1898	STRAND		might get lost (downstream of altered splice site)
1903	1909	STRAND		might get lost (downstream of altered splice site)
1919	1994	REPEAT	Filamin 18.	might get lost (downstream of altered splice site)
1924	1927	STRAND		might get lost (downstream of altered splice site)
1941	1943	STRAND		might get lost (downstream of altered splice site)
1952	1957	STRAND		might get lost (downstream of altered splice site)
1953	1953	CONFLICT	L -> F (in Ref. 4; AAF97046).	might get lost (downstream of altered splice site)
1958	1960	TURN		might get lost (downstream of altered splice site)
1961	1966	STRAND		might get lost (downstream of altered splice site)
1972	1977	STRAND		might get lost (downstream of altered splice site)
1979	1984	STRAND		might get lost (downstream of altered splice site)
1989	1994	STRAND		might get lost (downstream of altered splice site)
1997	1999	STRAND		might get lost (downstream of altered splice site)
1997	2089	REPEAT	Filamin 19.	might get lost (downstream of altered splice site)
2002	2004	HELIX		might get lost (downstream of altered splice site)
2006	2006	CONFLICT	K -> R (in Ref. 2; AAC33845).	might get lost (downstream of altered splice site)
2006	2010	STRAND		might get lost (downstream of altered splice site)
2011	2013	TURN		might get lost (downstream of altered splice site)
2014	2016	STRAND		might get lost (downstream of altered splice site)
2021	2026	STRAND		might get lost (downstream of altered splice site)
2028	2030	TURN		might get lost (downstream of altered splice site)
2035	2043	STRAND		might get lost (downstream of altered splice site)
2057	2061	STRAND		might get lost (downstream of altered splice site)
2060	2225	REGION	Interaction with FLNA 1.	might get lost (downstream of altered splice site)
2067	2077	STRAND		might get lost (downstream of altered splice site)
2083	2083	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2084	2090	STRAND		might get lost (downstream of altered splice site)
2091	2185	REPEAT	Filamin 20.	might get lost (downstream of altered splice site)
2099	2099	CONFLICT	I -> S (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
2107	2107	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2111	2113	STRAND		might get lost (downstream of altered splice site)
2118	2120	STRAND		might get lost (downstream of altered splice site)
2126	2128	HELIX		might get lost (downstream of altered splice site)
2130	2134	STRAND		might get lost (downstream of altered splice site)
2130	2602	REGION	Interaction with INPPL1.	might get lost (downstream of altered splice site)
2140	2142	STRAND		might get lost (downstream of altered splice site)
2144	2147	STRAND		might get lost (downstream of altered splice site)
2149	2157	STRAND		might get lost (downstream of altered splice site)
2164	2175	STRAND		might get lost (downstream of altered splice site)
2170	2170	CONFLICT	K -> N (in Ref. 4; AAF97046).	might get lost (downstream of altered splice site)
2170	2170	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2180	2185	STRAND		might get lost (downstream of altered splice site)
2188	2280	REPEAT	Filamin 21.	might get lost (downstream of altered splice site)
2193	2195	HELIX		might get lost (downstream of altered splice site)
2201	2203	TURN		might get lost (downstream of altered splice site)
2206	2208	STRAND		might get lost (downstream of altered splice site)
2210	2214	STRAND		might get lost (downstream of altered splice site)
2219	2221	STRAND		might get lost (downstream of altered splice site)
2226	2234	STRAND		might get lost (downstream of altered splice site)
2236	2240	STRAND		might get lost (downstream of altered splice site)
2250	2256	STRAND		might get lost (downstream of altered splice site)
2258	2266	STRAND		might get lost (downstream of altered splice site)
2275	2281	STRAND		might get lost (downstream of altered splice site)
2282	2375	REPEAT	Filamin 22.	might get lost (downstream of altered splice site)
2288	2294	STRAND		might get lost (downstream of altered splice site)
2293	2293	CONFLICT	M -> V (in Ref. 4; AAF97046 and 7; CAE46040).	might get lost (downstream of altered splice site)
2306	2314	STRAND		might get lost (downstream of altered splice site)
2320	2324	STRAND		might get lost (downstream of altered splice site)
2330	2332	STRAND		might get lost (downstream of altered splice site)
2334	2337	STRAND		might get lost (downstream of altered splice site)
2340	2347	STRAND		might get lost (downstream of altered splice site)
2352	2365	STRAND		might get lost (downstream of altered splice site)
2354	2354	CONFLICT	V -> A (in Ref. 11; CAB70818).	might get lost (downstream of altered splice site)
2369	2369	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2370	2375	STRAND		might get lost (downstream of altered splice site)
2379	2471	REPEAT	Filamin 23.	might get lost (downstream of altered splice site)
2384	2386	TURN		might get lost (downstream of altered splice site)
2388	2392	STRAND		might get lost (downstream of altered splice site)
2393	2395	TURN		might get lost (downstream of altered splice site)
2403	2408	STRAND		might get lost (downstream of altered splice site)
2410	2412	TURN		might get lost (downstream of altered splice site)
2417	2425	STRAND		might get lost (downstream of altered splice site)
2430	2433	STRAND		might get lost (downstream of altered splice site)
2435	2442	STRAND		might get lost (downstream of altered splice site)
2448	2459	STRAND		might get lost (downstream of altered splice site)
2466	2473	STRAND		might get lost (downstream of altered splice site)
2468	2468	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ISG15).	might get lost (downstream of altered splice site)
2468	2468	MUTAGEN	K->R: Cytoplasmic localization.	might get lost (downstream of altered splice site)
2472	2506	REGION	Hinge 2 (By similarity).	might get lost (downstream of altered splice site)
2472	2602	REGION	Self-association site, tail (By similarity).	might get lost (downstream of altered splice site)
2478	2478	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2481	2481	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2487	2487	CONFLICT	S -> C (in Ref. 13; AAA35505).	might get lost (downstream of altered splice site)
2502	2502	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
2507	2601	REPEAT	Filamin 24.	might get lost (downstream of altered splice site)
2507	2602	REGION	Interaction with FLNA 2.	might get lost (downstream of altered splice site)
2512	2514	TURN		might get lost (downstream of altered splice site)
2516	2519	STRAND		might get lost (downstream of altered splice site)
2520	2523	HELIX		might get lost (downstream of altered splice site)
2531	2536	STRAND		might get lost (downstream of altered splice site)
2538	2540	TURN		might get lost (downstream of altered splice site)
2545	2547	STRAND		might get lost (downstream of altered splice site)
2557	2565	STRAND		might get lost (downstream of altered splice site)
2568	2574	STRAND		might get lost (downstream of altered splice site)
2571	2571	CONFLICT	V -> A (in Ref. 11; CAB70818).	might get lost (downstream of altered splice site)
2576	2576	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2579	2583	STRAND		might get lost (downstream of altered splice site)
2585	2591	STRAND		might get lost (downstream of altered splice site)
2596	2601	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

7230 / 7230

position (AA) of stopcodon in wt / mu AA sequence

2410 / 2410

position of stopcodon in wt / mu cDNA

7387 / 7387

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

158 / 158

chromosome

strand

last intron/exon boundary

7200

theoretical NMD boundary in CDS

6992

length of CDS

7230

coding sequence (CDS) position

193

cDNA position
(for ins/del: last normal base / first normal base)

350

gDNA position
(for ins/del: last normal base / first normal base)

73290

chromosomal position
(for ins/del: last normal base / first normal base)

58067416

original gDNA sequence snippet

AGCACTCAGTTATGACTTACCTGTCCCAGTTCCCCAAAGCC

altered gDNA sequence snippet

AGCACTCAGTTATGACTTACGTGTCCCAGTTCCCCAAAGCC

original cDNA sequence snippet

AGCACTCAGTTATGACTTACCTGTCCCAGTTCCCCAAAGCC

altered cDNA sequence snippet

AGCACTCAGTTATGACTTACGTGTCCCAGTTCCCCAAAGCC

wildtype AA sequence

MQEHSTRRRS LSLCPDWESW DPQKPVDNAR EAMQQADDWL GVPQVITPEE IIHPDVDEHS
VMTYLSQFPK AKLKPGAPLK PKLNPKKARA YGRGIEPTGN MVKQPAKFTV DTISAGQGDV
MVFVEDPEGN KEEAQVTPDS DKNKTYSVEY LPKVTGLHKV TVLFAGQHIS KSPFEVSVDK
AQGDASKVTA KGPGLEAVGN IANKPTYFDI YTAGAGVGDI GVEVEDPQGK NTVELLVEDK
GNQVYRCVYK PMQPGPHVVK IFFAGDTIPK SPFVVQVGEA CNPNACRASG RGLQPKGVRI
RETTDFKVDT KAAGSGELGV TMKGPKGLEE LVKQKDFLDG VYAFEYYPST PGRYSIAITW
GGHHIPKSPF EVQVGPEAGM QKVRAWGPGL HGGIVGRSAD FVVESIGSEV GSLGFAIEGP
SQAKIEYNDQ NDGSCDVKYW PKEPGEYAVH IMCDDEDIKD SPYMAFIHPA TGGYNPDLVR
AYGPGLEKSG CIVNNLAEFT VDPKDAGKAP LKIFAQDGEG QRIDIQMKNR MDGTYACSYT
PVKAIKHTIA VVWGGVNIPH SPYRVNIGQG SHPQKVKVFG PGVERSGLKA NEPTHFTVDC
TEAGEGDVSV GIKCDARVLS EDEEDVDFDI IHNANDTFTV KYVPPAAGRY TIKVLFASQE
IPASPFRVKV DPSHDASKVK AEGPGLSKAG VENGKPTHFT VYTKGAGKAP LNVQFNSPLP
GDAVKDLDII DNYDYSHTVK YTPTQQGNMQ VLVTYGGDPI PKSPFTVGVA APLDLSKIKL
NGLENRVEVG KDQEFTVDTR GAGGQGKLDV TILSPSRKVV PCLVTPVTGR ENSTAKFIPR
EEGLYAVDVT YDGHPVPGSP YTVEASLPPD PSKVKAHGPG LEGGLVGKPA EFTIDTKGAG
TGGLGLTVEG PCEAKIECSD NGDGTCSVSY LPTKPGEYFV NILFEEVHIP GSPFKADIEM
PFDPSKVVAS GPGLEHGKVG EAGLLSVDCS EAGPGALGLE AVSDSGTKAE VSIQNNKDGT
YAVTYVPLTA GMYTLTMKYG GELVPHFPAR VKVEPAVDTS RIKVFGPGIE GKDVFREATT
DFTVDSRPLT QVGGDHIKAH IANPSGASTE CFVTDNADGT YQVEYTPFEK GLHVVEVTYD
DVPIPNSPFK VAVTEGCQPS RVQAQGPGLK EAFTNKPNVF TVVTRGAGIG GLGITVEGPS
ESKINCRDNK DGSCSAEYIP FAPGDYDVNI TYGGAHIPGS PFRVPVKDVV DPSKVKIAGP
GLGSGVRARV LQSFTVDSSK AGLAPLEVRV LGPRGLVEPV NVVDNGDGTH TVTYTPSQEG
PYMVSVKYAD EEIPRSPFKV KVLPTYDASK VTASGPGLSS YGVPASLPVD FAIDARDAGE
GLLAVQITDQ EGKPKRAIVH DNKDGTYAVT YIPDKTGRYM IGVTYGGDDI PLSPYRIRAT
QTGDASKCLA TGPGIASTVK TGEEVGFVVD AKTAGKGKVT CTVLTPDGTE AEADVIENED
GTYDIFYTAA KPGTYVIYVR FGGVDIPNSP FTVMVTEEAY VPVSDMNGLG FKPFDLVIPF
AVRKGEITGE VHMPSGKTAT PEIVDNKDGT VTVRYAPTEV GLHEMHIKYM GSHIPESPLQ
FYVNYPNSGS VSAYGPGLVY GVANKTATFT IVTEDAGEGG LDLAIEGPSK AEISCIDNKD
GTCTVTYLPT LPGDYSILVK YNDKHIPGSP FTAKITDDSR RCSQVKLGSA ADFLLDISET
DLSSLTASIK APSGRDEPCL LKRLPNNHIG ISFIPREVGE HLVSIKKNGN HVANSPVSIM
VVQSEIGDAR RAKVYGRGLS EGRTFEMSDF IVDTRDAGYG GISLAVEGPS KVDIQTEDLE
DGTCKVSYFP TVPGVYIVST KFADEHVPGS PFTVKISGEG RVKESITRTS RAPSVATVGS
ICDLNLKIPE INSSDMSAHV TSPSGRVTEA EIVPMGKNSH CVRFVPQEMG VHTVSVKYRG
QHVTGSPFQF TVGPLGEGGA HKVRAGGPGL ERGEAGVPAE FSIWTREAGA GGLSIAVEGP
SKAEITFDDH KNGSCGVSYI AQEPGNYEVS IKFNDEHIPE SPYLVPVIAP SDDARRLTVM
SLQESGLKVN QPASFAIRLN GAKGKIDAKV HSPSGAVEEC HVSELEPDKY AVRFIPHENG
VHTIDVKFNG SHVVGSPFKV RVGEPGQAGN PALVSAYGTG LEGGTTGIQS EFFINTTRAG
PGTLSVTIEG PSKVKMDCQE TPEGYKVMYT PMAPGNYLIS VKYGGPNHIV GSPFKAKVTG
QRLVSPGSAN ETSSILVESV TRSSTETCYS AIPKASSDAS KVTSKGAGLS KAFVGQKSSF
LVDCSKAGSN MLLIGVHGPT TPCEEVSMKH VGNQQYNVTY VVKERGDYVL AVKWGEEHIP
GSPFHVTVP*

mutated AA sequence

MQEHSTRRRS LSLCPDWESW DPQKPVDNAR EAMQQADDWL GVPQVITPEE IIHPDVDEHS
VMTYVSQFPK AKLKPGAPLK PKLNPKKARA YGRGIEPTGN MVKQPAKFTV DTISAGQGDV
MVFVEDPEGN KEEAQVTPDS DKNKTYSVEY LPKVTGLHKV TVLFAGQHIS KSPFEVSVDK
AQGDASKVTA KGPGLEAVGN IANKPTYFDI YTAGAGVGDI GVEVEDPQGK NTVELLVEDK
GNQVYRCVYK PMQPGPHVVK IFFAGDTIPK SPFVVQVGEA CNPNACRASG RGLQPKGVRI
RETTDFKVDT KAAGSGELGV TMKGPKGLEE LVKQKDFLDG VYAFEYYPST PGRYSIAITW
GGHHIPKSPF EVQVGPEAGM QKVRAWGPGL HGGIVGRSAD FVVESIGSEV GSLGFAIEGP
SQAKIEYNDQ NDGSCDVKYW PKEPGEYAVH IMCDDEDIKD SPYMAFIHPA TGGYNPDLVR
AYGPGLEKSG CIVNNLAEFT VDPKDAGKAP LKIFAQDGEG QRIDIQMKNR MDGTYACSYT
PVKAIKHTIA VVWGGVNIPH SPYRVNIGQG SHPQKVKVFG PGVERSGLKA NEPTHFTVDC
TEAGEGDVSV GIKCDARVLS EDEEDVDFDI IHNANDTFTV KYVPPAAGRY TIKVLFASQE
IPASPFRVKV DPSHDASKVK AEGPGLSKAG VENGKPTHFT VYTKGAGKAP LNVQFNSPLP
GDAVKDLDII DNYDYSHTVK YTPTQQGNMQ VLVTYGGDPI PKSPFTVGVA APLDLSKIKL
NGLENRVEVG KDQEFTVDTR GAGGQGKLDV TILSPSRKVV PCLVTPVTGR ENSTAKFIPR
EEGLYAVDVT YDGHPVPGSP YTVEASLPPD PSKVKAHGPG LEGGLVGKPA EFTIDTKGAG
TGGLGLTVEG PCEAKIECSD NGDGTCSVSY LPTKPGEYFV NILFEEVHIP GSPFKADIEM
PFDPSKVVAS GPGLEHGKVG EAGLLSVDCS EAGPGALGLE AVSDSGTKAE VSIQNNKDGT
YAVTYVPLTA GMYTLTMKYG GELVPHFPAR VKVEPAVDTS RIKVFGPGIE GKDVFREATT
DFTVDSRPLT QVGGDHIKAH IANPSGASTE CFVTDNADGT YQVEYTPFEK GLHVVEVTYD
DVPIPNSPFK VAVTEGCQPS RVQAQGPGLK EAFTNKPNVF TVVTRGAGIG GLGITVEGPS
ESKINCRDNK DGSCSAEYIP FAPGDYDVNI TYGGAHIPGS PFRVPVKDVV DPSKVKIAGP
GLGSGVRARV LQSFTVDSSK AGLAPLEVRV LGPRGLVEPV NVVDNGDGTH TVTYTPSQEG
PYMVSVKYAD EEIPRSPFKV KVLPTYDASK VTASGPGLSS YGVPASLPVD FAIDARDAGE
GLLAVQITDQ EGKPKRAIVH DNKDGTYAVT YIPDKTGRYM IGVTYGGDDI PLSPYRIRAT
QTGDASKCLA TGPGIASTVK TGEEVGFVVD AKTAGKGKVT CTVLTPDGTE AEADVIENED
GTYDIFYTAA KPGTYVIYVR FGGVDIPNSP FTVMVTEEAY VPVSDMNGLG FKPFDLVIPF
AVRKGEITGE VHMPSGKTAT PEIVDNKDGT VTVRYAPTEV GLHEMHIKYM GSHIPESPLQ
FYVNYPNSGS VSAYGPGLVY GVANKTATFT IVTEDAGEGG LDLAIEGPSK AEISCIDNKD
GTCTVTYLPT LPGDYSILVK YNDKHIPGSP FTAKITDDSR RCSQVKLGSA ADFLLDISET
DLSSLTASIK APSGRDEPCL LKRLPNNHIG ISFIPREVGE HLVSIKKNGN HVANSPVSIM
VVQSEIGDAR RAKVYGRGLS EGRTFEMSDF IVDTRDAGYG GISLAVEGPS KVDIQTEDLE
DGTCKVSYFP TVPGVYIVST KFADEHVPGS PFTVKISGEG RVKESITRTS RAPSVATVGS
ICDLNLKIPE INSSDMSAHV TSPSGRVTEA EIVPMGKNSH CVRFVPQEMG VHTVSVKYRG
QHVTGSPFQF TVGPLGEGGA HKVRAGGPGL ERGEAGVPAE FSIWTREAGA GGLSIAVEGP
SKAEITFDDH KNGSCGVSYI AQEPGNYEVS IKFNDEHIPE SPYLVPVIAP SDDARRLTVM
SLQESGLKVN QPASFAIRLN GAKGKIDAKV HSPSGAVEEC HVSELEPDKY AVRFIPHENG
VHTIDVKFNG SHVVGSPFKV RVGEPGQAGN PALVSAYGTG LEGGTTGIQS EFFINTTRAG
PGTLSVTIEG PSKVKMDCQE TPEGYKVMYT PMAPGNYLIS VKYGGPNHIV GSPFKAKVTG
QRLVSPGSAN ETSSILVESV TRSSTETCYS AIPKASSDAS KVTSKGAGLS KAFVGQKSSF
LVDCSKAGSN MLLIGVHGPT TPCEEVSMKH VGNQQYNVTY VVKERGDYVL AVKWGEEHIP
GSPFHVTVP*

speed

0.65 s

All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999996549572086 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM070930)
known disease mutation: rs21296 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:58067416C>GN/A show variant in all transcripts IGV

HGNC symbol

FLNB

Ensembl transcript ID

ENST00000419752

Genbank transcript ID

N/A

UniProt peptide

O75369

alteration type

single base exchange

alteration region

CDS

DNA changes

c.193C>G
cDNA.193C>G
g.73290C>G

AA changes

L65V Score: 32 explain score(s)

position(s) of altered AA
if AA alteration in CDS

frameshift

known variant

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.571	1
	3.554	1
(flanking)	5.193	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor increased	73284	wt: 0.30 / mu: 0.98	wt: TTATGACTTACCTGT mu: TTATGACTTACGTGT	ATGA\|ctta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000015054

234

Mmulatta

all identical

ENSMMUG00000000706

234

Fcatus

no alignment

ENSFCAG00000006518

n/a

Mmusculus

all identical

ENSMUSG00000025278

234

Ggallus

all identical

ENSGALG00000005678

137

Trubripes

all identical

ENSTRUG00000005042

235

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000008663

234

protein features

start (aa)	end (aa)	feature	details
1	239	DOMAIN	Actin-binding.	lost
16	122	DOMAIN	CH 1.	lost
73	89	HELIX		might get lost (downstream of altered splice site)
99	103	HELIX		might get lost (downstream of altered splice site)
107	122	HELIX		might get lost (downstream of altered splice site)
139	239	DOMAIN	CH 2.	might get lost (downstream of altered splice site)
141	152	HELIX		might get lost (downstream of altered splice site)
163	165	HELIX		might get lost (downstream of altered splice site)
169	178	HELIX		might get lost (downstream of altered splice site)
186	188	HELIX		might get lost (downstream of altered splice site)
194	208	HELIX		might get lost (downstream of altered splice site)
217	220	HELIX		might get lost (downstream of altered splice site)
227	234	HELIX		might get lost (downstream of altered splice site)
236	239	HELIX		might get lost (downstream of altered splice site)
249	347	REPEAT	Filamin 1.	might get lost (downstream of altered splice site)
349	446	REPEAT	Filamin 2.	might get lost (downstream of altered splice site)
447	543	REPEAT	Filamin 3.	might get lost (downstream of altered splice site)
519	519	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
544	636	REPEAT	Filamin 4.	might get lost (downstream of altered splice site)
640	736	REPEAT	Filamin 5.	might get lost (downstream of altered splice site)
658	658	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
681	681	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
737	839	REPEAT	Filamin 6.	might get lost (downstream of altered splice site)
816	816	CONFLICT	A -> T (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
840	938	REPEAT	Filamin 7.	might get lost (downstream of altered splice site)
886	886	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
924	924	CONFLICT	Y -> H (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
939	1034	REPEAT	Filamin 8.	might get lost (downstream of altered splice site)
983	983	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1028	1028	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1035	1127	REPEAT	Filamin 9.	might get lost (downstream of altered splice site)
1040	1042	HELIX		might get lost (downstream of altered splice site)
1044	1047	STRAND		might get lost (downstream of altered splice site)
1048	1051	HELIX		might get lost (downstream of altered splice site)
1052	1054	STRAND		might get lost (downstream of altered splice site)
1059	1064	STRAND		might get lost (downstream of altered splice site)
1066	1068	TURN		might get lost (downstream of altered splice site)
1073	1077	STRAND		might get lost (downstream of altered splice site)
1079	1081	STRAND		might get lost (downstream of altered splice site)
1084	1089	STRAND		might get lost (downstream of altered splice site)
1091	1100	STRAND		might get lost (downstream of altered splice site)
1102	1115	STRAND		might get lost (downstream of altered splice site)
1122	1128	STRAND		might get lost (downstream of altered splice site)
1128	1222	REPEAT	Filamin 10.	might get lost (downstream of altered splice site)
1128	1511	REGION	Interaction with FBLP1.	might get lost (downstream of altered splice site)
1133	1135	HELIX		might get lost (downstream of altered splice site)
1136	1140	STRAND		might get lost (downstream of altered splice site)
1141	1143	HELIX		might get lost (downstream of altered splice site)
1154	1160	STRAND		might get lost (downstream of altered splice site)
1166	1172	STRAND		might get lost (downstream of altered splice site)
1173	1175	TURN		might get lost (downstream of altered splice site)
1179	1184	STRAND		might get lost (downstream of altered splice site)
1188	1195	STRAND		might get lost (downstream of altered splice site)
1200	1208	STRAND		might get lost (downstream of altered splice site)
1217	1223	STRAND		might get lost (downstream of altered splice site)
1223	1322	REPEAT	Filamin 11.	might get lost (downstream of altered splice site)
1232	1235	STRAND		might get lost (downstream of altered splice site)
1236	1239	HELIX		might get lost (downstream of altered splice site)
1249	1254	STRAND		might get lost (downstream of altered splice site)
1256	1258	STRAND		might get lost (downstream of altered splice site)
1273	1275	STRAND		might get lost (downstream of altered splice site)
1281	1284	STRAND		might get lost (downstream of altered splice site)
1286	1294	STRAND		might get lost (downstream of altered splice site)
1300	1310	STRAND		might get lost (downstream of altered splice site)
1316	1316	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1317	1321	STRAND		might get lost (downstream of altered splice site)
1323	1415	REPEAT	Filamin 12.	might get lost (downstream of altered splice site)
1332	1335	STRAND		might get lost (downstream of altered splice site)
1336	1339	HELIX		might get lost (downstream of altered splice site)
1347	1352	STRAND		might get lost (downstream of altered splice site)
1354	1356	TURN		might get lost (downstream of altered splice site)
1361	1369	STRAND		might get lost (downstream of altered splice site)
1374	1377	STRAND		might get lost (downstream of altered splice site)
1379	1381	STRAND		might get lost (downstream of altered splice site)
1383	1387	STRAND		might get lost (downstream of altered splice site)
1393	1401	STRAND		might get lost (downstream of altered splice site)
1410	1416	STRAND		might get lost (downstream of altered splice site)
1411	1411	CONFLICT	F -> L (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
1416	1511	REPEAT	Filamin 13.	might get lost (downstream of altered splice site)
1425	1428	STRAND		might get lost (downstream of altered splice site)
1429	1431	TURN		might get lost (downstream of altered splice site)
1433	1433	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1441	1446	STRAND		might get lost (downstream of altered splice site)
1448	1450	TURN		might get lost (downstream of altered splice site)
1455	1460	STRAND		might get lost (downstream of altered splice site)
1462	1464	STRAND		might get lost (downstream of altered splice site)
1475	1483	STRAND		might get lost (downstream of altered splice site)
1489	1501	STRAND		might get lost (downstream of altered splice site)
1505	1505	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1506	1512	STRAND		might get lost (downstream of altered splice site)
1512	1608	REPEAT	Filamin 14.	might get lost (downstream of altered splice site)
1517	1519	HELIX		might get lost (downstream of altered splice site)
1520	1524	STRAND		might get lost (downstream of altered splice site)
1525	1527	HELIX		might get lost (downstream of altered splice site)
1530	1530	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
1538	1546	STRAND		might get lost (downstream of altered splice site)
1557	1557	MOD_RES	Phosphothreonine (By similarity).	might get lost (downstream of altered splice site)
1560	1560	CONFLICT	E -> G (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
1566	1570	STRAND		might get lost (downstream of altered splice site)
1573	1580	STRAND		might get lost (downstream of altered splice site)
1586	1590	STRAND		might get lost (downstream of altered splice site)
1593	1596	STRAND		might get lost (downstream of altered splice site)
1602	1602	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1603	1609	STRAND		might get lost (downstream of altered splice site)
1609	1704	REPEAT	Filamin 15.	might get lost (downstream of altered splice site)
1618	1621	STRAND		might get lost (downstream of altered splice site)
1622	1624	HELIX		might get lost (downstream of altered splice site)
1625	1639	STRAND		might get lost (downstream of altered splice site)
1641	1643	STRAND		might get lost (downstream of altered splice site)
1648	1653	STRAND		might get lost (downstream of altered splice site)
1663	1666	STRAND		might get lost (downstream of altered splice site)
1672	1677	STRAND		might get lost (downstream of altered splice site)
1682	1692	STRAND		might get lost (downstream of altered splice site)
1684	1684	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
1699	1705	STRAND		might get lost (downstream of altered splice site)
1705	1728	REGION	Hinge 1 (By similarity).	might get lost (downstream of altered splice site)
1729	1813	REPEAT	Filamin 16.	might get lost (downstream of altered splice site)
1748	1750	STRAND		might get lost (downstream of altered splice site)
1759	1765	STRAND		might get lost (downstream of altered splice site)
1775	1778	STRAND		might get lost (downstream of altered splice site)
1780	1782	STRAND		might get lost (downstream of altered splice site)
1784	1787	STRAND		might get lost (downstream of altered splice site)
1792	1804	STRAND		might get lost (downstream of altered splice site)
1811	1816	STRAND		might get lost (downstream of altered splice site)
1816	1908	REPEAT	Filamin 17.	might get lost (downstream of altered splice site)
1825	1828	STRAND		might get lost (downstream of altered splice site)
1829	1832	HELIX		might get lost (downstream of altered splice site)
1833	1835	STRAND		might get lost (downstream of altered splice site)
1840	1845	STRAND		might get lost (downstream of altered splice site)
1854	1862	STRAND		might get lost (downstream of altered splice site)
1862	2148	REGION	Interaction with the cytoplasmic tail of GP1BA.	might get lost (downstream of altered splice site)
1872	1881	STRAND		might get lost (downstream of altered splice site)
1888	1898	STRAND		might get lost (downstream of altered splice site)
1903	1909	STRAND		might get lost (downstream of altered splice site)
1919	1994	REPEAT	Filamin 18.	might get lost (downstream of altered splice site)
1924	1927	STRAND		might get lost (downstream of altered splice site)
1941	1943	STRAND		might get lost (downstream of altered splice site)
1952	1957	STRAND		might get lost (downstream of altered splice site)
1953	1953	CONFLICT	L -> F (in Ref. 4; AAF97046).	might get lost (downstream of altered splice site)
1958	1960	TURN		might get lost (downstream of altered splice site)
1961	1966	STRAND		might get lost (downstream of altered splice site)
1972	1977	STRAND		might get lost (downstream of altered splice site)
1979	1984	STRAND		might get lost (downstream of altered splice site)
1989	1994	STRAND		might get lost (downstream of altered splice site)
1997	1999	STRAND		might get lost (downstream of altered splice site)
1997	2089	REPEAT	Filamin 19.	might get lost (downstream of altered splice site)
2002	2004	HELIX		might get lost (downstream of altered splice site)
2006	2006	CONFLICT	K -> R (in Ref. 2; AAC33845).	might get lost (downstream of altered splice site)
2006	2010	STRAND		might get lost (downstream of altered splice site)
2011	2013	TURN		might get lost (downstream of altered splice site)
2014	2016	STRAND		might get lost (downstream of altered splice site)
2021	2026	STRAND		might get lost (downstream of altered splice site)
2028	2030	TURN		might get lost (downstream of altered splice site)
2035	2043	STRAND		might get lost (downstream of altered splice site)
2057	2061	STRAND		might get lost (downstream of altered splice site)
2060	2225	REGION	Interaction with FLNA 1.	might get lost (downstream of altered splice site)
2067	2077	STRAND		might get lost (downstream of altered splice site)
2083	2083	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2084	2090	STRAND		might get lost (downstream of altered splice site)
2091	2185	REPEAT	Filamin 20.	might get lost (downstream of altered splice site)
2099	2099	CONFLICT	I -> S (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
2107	2107	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2111	2113	STRAND		might get lost (downstream of altered splice site)
2118	2120	STRAND		might get lost (downstream of altered splice site)
2126	2128	HELIX		might get lost (downstream of altered splice site)
2130	2134	STRAND		might get lost (downstream of altered splice site)
2130	2602	REGION	Interaction with INPPL1.	might get lost (downstream of altered splice site)
2140	2142	STRAND		might get lost (downstream of altered splice site)
2144	2147	STRAND		might get lost (downstream of altered splice site)
2149	2157	STRAND		might get lost (downstream of altered splice site)
2164	2175	STRAND		might get lost (downstream of altered splice site)
2170	2170	CONFLICT	K -> N (in Ref. 4; AAF97046).	might get lost (downstream of altered splice site)
2170	2170	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2180	2185	STRAND		might get lost (downstream of altered splice site)
2188	2280	REPEAT	Filamin 21.	might get lost (downstream of altered splice site)
2193	2195	HELIX		might get lost (downstream of altered splice site)
2201	2203	TURN		might get lost (downstream of altered splice site)
2206	2208	STRAND		might get lost (downstream of altered splice site)
2210	2214	STRAND		might get lost (downstream of altered splice site)
2219	2221	STRAND		might get lost (downstream of altered splice site)
2226	2234	STRAND		might get lost (downstream of altered splice site)
2236	2240	STRAND		might get lost (downstream of altered splice site)
2250	2256	STRAND		might get lost (downstream of altered splice site)
2258	2266	STRAND		might get lost (downstream of altered splice site)
2275	2281	STRAND		might get lost (downstream of altered splice site)
2282	2375	REPEAT	Filamin 22.	might get lost (downstream of altered splice site)
2288	2294	STRAND		might get lost (downstream of altered splice site)
2293	2293	CONFLICT	M -> V (in Ref. 4; AAF97046 and 7; CAE46040).	might get lost (downstream of altered splice site)
2306	2314	STRAND		might get lost (downstream of altered splice site)
2320	2324	STRAND		might get lost (downstream of altered splice site)
2330	2332	STRAND		might get lost (downstream of altered splice site)
2334	2337	STRAND		might get lost (downstream of altered splice site)
2340	2347	STRAND		might get lost (downstream of altered splice site)
2352	2365	STRAND		might get lost (downstream of altered splice site)
2354	2354	CONFLICT	V -> A (in Ref. 11; CAB70818).	might get lost (downstream of altered splice site)
2369	2369	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2370	2375	STRAND		might get lost (downstream of altered splice site)
2379	2471	REPEAT	Filamin 23.	might get lost (downstream of altered splice site)
2384	2386	TURN		might get lost (downstream of altered splice site)
2388	2392	STRAND		might get lost (downstream of altered splice site)
2393	2395	TURN		might get lost (downstream of altered splice site)
2403	2408	STRAND		might get lost (downstream of altered splice site)
2410	2412	TURN		might get lost (downstream of altered splice site)
2417	2425	STRAND		might get lost (downstream of altered splice site)
2430	2433	STRAND		might get lost (downstream of altered splice site)
2435	2442	STRAND		might get lost (downstream of altered splice site)
2448	2459	STRAND		might get lost (downstream of altered splice site)
2466	2473	STRAND		might get lost (downstream of altered splice site)
2468	2468	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ISG15).	might get lost (downstream of altered splice site)
2468	2468	MUTAGEN	K->R: Cytoplasmic localization.	might get lost (downstream of altered splice site)
2472	2506	REGION	Hinge 2 (By similarity).	might get lost (downstream of altered splice site)
2472	2602	REGION	Self-association site, tail (By similarity).	might get lost (downstream of altered splice site)
2478	2478	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2481	2481	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2487	2487	CONFLICT	S -> C (in Ref. 13; AAA35505).	might get lost (downstream of altered splice site)
2502	2502	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
2507	2601	REPEAT	Filamin 24.	might get lost (downstream of altered splice site)
2507	2602	REGION	Interaction with FLNA 2.	might get lost (downstream of altered splice site)
2512	2514	TURN		might get lost (downstream of altered splice site)
2516	2519	STRAND		might get lost (downstream of altered splice site)
2520	2523	HELIX		might get lost (downstream of altered splice site)
2531	2536	STRAND		might get lost (downstream of altered splice site)
2538	2540	TURN		might get lost (downstream of altered splice site)
2545	2547	STRAND		might get lost (downstream of altered splice site)
2557	2565	STRAND		might get lost (downstream of altered splice site)
2568	2574	STRAND		might get lost (downstream of altered splice site)
2571	2571	CONFLICT	V -> A (in Ref. 11; CAB70818).	might get lost (downstream of altered splice site)
2576	2576	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2579	2583	STRAND		might get lost (downstream of altered splice site)
2585	2591	STRAND		might get lost (downstream of altered splice site)
2596	2601	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

7269 / 7269

position (AA) of stopcodon in wt / mu AA sequence

2423 / 2423

position of stopcodon in wt / mu cDNA

7269 / 7269

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

1 / 1

chromosome

strand

last intron/exon boundary

7082

theoretical NMD boundary in CDS

7031

length of CDS

7269

coding sequence (CDS) position

193

cDNA position
(for ins/del: last normal base / first normal base)

193

gDNA position
(for ins/del: last normal base / first normal base)

73290

chromosomal position
(for ins/del: last normal base / first normal base)

58067416

original gDNA sequence snippet

AGCACTCAGTTATGACTTACCTGTCCCAGTTCCCCAAAGCC

altered gDNA sequence snippet

AGCACTCAGTTATGACTTACGTGTCCCAGTTCCCCAAAGCC

original cDNA sequence snippet

AGCACTCAGTTATGACTTACCTGTCCCAGTTCCCCAAAGCC

altered cDNA sequence snippet

AGCACTCAGTTATGACTTACGTGTCCCAGTTCCCCAAAGCC

wildtype AA sequence

MQEHSTRRRS LSLCPDWESW DPQKPVDNAR EAMQQADDWL GVPQVITPEE IIHPDVDEHS
VMTYLSQFPK AKLKPGAPLK PKLNPKKARA YGRGIEPTGN MVKQPAKFTV DTISAGQGDV
MVFVEDPEGN KEEAQVTPDS DKNKTYSVEY LPKVTGLHKV TVLFAGQHIS KSPFEVSVDK
AQGDASKVTA KGPGLEAVGN IANKPTYFDI YTAGAGVGDI GVEVEDPQGK NTVELLVEDK
GNQVYRCVYK PMQPGPHVVK IFFAGDTIPK SPFVVQVGEA CNPNACRASG RGLQPKGVRI
RETTDFKVDT KAAGSGELGV TMKGPKGLEE LVKQKDFLDG VYAFEYYPST PGRYSIAITW
GGHHIPKSPF EVQVGPEAGM QKVRAWGPGL HGGIVGRSAD FVVESIGSEV GSLGFAIEGP
SQAKIEYNDQ NDGSCDVKYW PKEPGEYAVH IMCDDEDIKD SPYMAFIHPA TGGYNPDLVR
AYGPGLEKSG CIVNNLAEFT VDPKDAGKAP LKIFAQDGEG QRIDIQMKNR MDGTYACSYT
PVKAIKHTIA VVWGGVNIPH SPYRVNIGQG SHPQKVKVFG PGVERSGLKA NEPTHFTVDC
TEAGEGDVSV GIKCDARVLS EDEEDVDFDI IHNANDTFTV KYVPPAAGRY TIKVLFASQE
IPASPFRVKV DPSHDASKVK AEGPGLSKAG VENGKPTHFT VYTKGAGKAP LNVQFNSPLP
GDAVKDLDII DNYDYSHTVK YTPTQQGNMQ VLVTYGGDPI PKSPFTVGVA APLDLSKIKL
NGLENRVEVG KDQEFTVDTR GAGGQGKLDV TILSPSRKVV PCLVTPVTGR ENSTAKFIPR
EEGLYAVDVT YDGHPVPGSP YTVEASLPPD PSKVKAHGPG LEGGLVGKPA EFTIDTKGAG
TGGLGLTVEG PCEAKIECSD NGDGTCSVSY LPTKPGEYFV NILFEEVHIP GSPFKADIEM
PFDPSKVVAS GPGLEHGKVG EAGLLSVDCS EAGPGALGLE AVSDSGTKAE VSIQNNKDGT
YAVTYVPLTA GMYTLTMKYG GELVPHFPAR VKVEPAVDTS RIKVFGPGIE GKDVFREATT
DFTVDSRPLT QVGGDHIKAH IANPSGASTE CFVTDNADGT YQVEYTPFEK GLHVVEVTYD
DVPIPNSPFK VAVTEGCQPS RVQAQGPGLK EAFTNKPNVF TVVTRGAGIG GLGITVEGPS
ESKINCRDNK DGSCSAEYIP FAPGDYDVNI TYGGAHIPGS PFRVPVKDVV DPSKVKIAGP
GLGSGVRARV LQSFTVDSSK AGLAPLEVRV LGPRGLVEPV NVVDNGDGTH TVTYTPSQEG
PYMVSVKYAD EEIPRSPFKV KVLPTYDASK VTASGPGLSS YGVPASLPVD FAIDARDAGE
GLLAVQITDQ EGKPKRAIVH DNKDGTYAVT YIPDKTGRYM IGVTYGGDDI PLSPYRIRAT
QTGDASKCLA TGPGIASTVK TGEEVGFVVD AKTAGKGKVT CTVLTPDGTE AEADVIENED
GTYDIFYTAA KPGTYVIYVR FGGVDIPNSP FTVMATDGEV TAVEEAPVTE EAYVPVSDMN
GLGFKPFDLV IPFAVRKGEI TGEVHMPSGK TATPEIVDNK DGTVTVRYAP TEVGLHEMHI
KYMGSHIPES PLQFYVNYPN SGSVSAYGPG LVYGVANKTA TFTIVTEDAG EGGLDLAIEG
PSKAEISCID NKDGTCTVTY LPTLPGDYSI LVKYNDKHIP GSPFTAKITD DSRRCSQVKL
GSAADFLLDI SETDLSSLTA SIKAPSGRDE PCLLKRLPNN HIGISFIPRE VGEHLVSIKK
NGNHVANSPV SIMVVQSEIG DARRAKVYGR GLSEGRTFEM SDFIVDTRDA GYGGISLAVE
GPSKVDIQTE DLEDGTCKVS YFPTVPGVYI VSTKFADEHV PGSPFTVKIS GEGRVKESIT
RTSRAPSVAT VGSICDLNLK IPEINSSDMS AHVTSPSGRV TEAEIVPMGK NSHCVRFVPQ
EMGVHTVSVK YRGQHVTGSP FQFTVGPLGE GGAHKVRAGG PGLERGEAGV PAEFSIWTRE
AGAGGLSIAV EGPSKAEITF DDHKNGSCGV SYIAQEPGNY EVSIKFNDEH IPESPYLVPV
IAPSDDARRL TVMSLQESGL KVNQPASFAI RLNGAKGKID AKVHSPSGAV EECHVSELEP
DKYAVRFIPH ENGVHTIDVK FNGSHVVGSP FKVRVGEPGQ AGNPALVSAY GTGLEGGTTG
IQSEFFINTT RAGPGTLSVT IEGPSKVKMD CQETPEGYKV MYTPMAPGNY LISVKYGGPN
HIVGSPFKAK VTGQRLVSPG SANETSSILV ESVTRSSTET CYSAIPKASS DASKVTSKGA
GLSKAFVGQK SSFLVDCSKA GSNMLLIGVH GPTTPCEEVS MKHVGNQQYN VTYVVKERGD
YVLAVKWGEE HIPGSPFHVT VP*

mutated AA sequence

MQEHSTRRRS LSLCPDWESW DPQKPVDNAR EAMQQADDWL GVPQVITPEE IIHPDVDEHS
VMTYVSQFPK AKLKPGAPLK PKLNPKKARA YGRGIEPTGN MVKQPAKFTV DTISAGQGDV
MVFVEDPEGN KEEAQVTPDS DKNKTYSVEY LPKVTGLHKV TVLFAGQHIS KSPFEVSVDK
AQGDASKVTA KGPGLEAVGN IANKPTYFDI YTAGAGVGDI GVEVEDPQGK NTVELLVEDK
GNQVYRCVYK PMQPGPHVVK IFFAGDTIPK SPFVVQVGEA CNPNACRASG RGLQPKGVRI
RETTDFKVDT KAAGSGELGV TMKGPKGLEE LVKQKDFLDG VYAFEYYPST PGRYSIAITW
GGHHIPKSPF EVQVGPEAGM QKVRAWGPGL HGGIVGRSAD FVVESIGSEV GSLGFAIEGP
SQAKIEYNDQ NDGSCDVKYW PKEPGEYAVH IMCDDEDIKD SPYMAFIHPA TGGYNPDLVR
AYGPGLEKSG CIVNNLAEFT VDPKDAGKAP LKIFAQDGEG QRIDIQMKNR MDGTYACSYT
PVKAIKHTIA VVWGGVNIPH SPYRVNIGQG SHPQKVKVFG PGVERSGLKA NEPTHFTVDC
TEAGEGDVSV GIKCDARVLS EDEEDVDFDI IHNANDTFTV KYVPPAAGRY TIKVLFASQE
IPASPFRVKV DPSHDASKVK AEGPGLSKAG VENGKPTHFT VYTKGAGKAP LNVQFNSPLP
GDAVKDLDII DNYDYSHTVK YTPTQQGNMQ VLVTYGGDPI PKSPFTVGVA APLDLSKIKL
NGLENRVEVG KDQEFTVDTR GAGGQGKLDV TILSPSRKVV PCLVTPVTGR ENSTAKFIPR
EEGLYAVDVT YDGHPVPGSP YTVEASLPPD PSKVKAHGPG LEGGLVGKPA EFTIDTKGAG
TGGLGLTVEG PCEAKIECSD NGDGTCSVSY LPTKPGEYFV NILFEEVHIP GSPFKADIEM
PFDPSKVVAS GPGLEHGKVG EAGLLSVDCS EAGPGALGLE AVSDSGTKAE VSIQNNKDGT
YAVTYVPLTA GMYTLTMKYG GELVPHFPAR VKVEPAVDTS RIKVFGPGIE GKDVFREATT
DFTVDSRPLT QVGGDHIKAH IANPSGASTE CFVTDNADGT YQVEYTPFEK GLHVVEVTYD
DVPIPNSPFK VAVTEGCQPS RVQAQGPGLK EAFTNKPNVF TVVTRGAGIG GLGITVEGPS
ESKINCRDNK DGSCSAEYIP FAPGDYDVNI TYGGAHIPGS PFRVPVKDVV DPSKVKIAGP
GLGSGVRARV LQSFTVDSSK AGLAPLEVRV LGPRGLVEPV NVVDNGDGTH TVTYTPSQEG
PYMVSVKYAD EEIPRSPFKV KVLPTYDASK VTASGPGLSS YGVPASLPVD FAIDARDAGE
GLLAVQITDQ EGKPKRAIVH DNKDGTYAVT YIPDKTGRYM IGVTYGGDDI PLSPYRIRAT
QTGDASKCLA TGPGIASTVK TGEEVGFVVD AKTAGKGKVT CTVLTPDGTE AEADVIENED
GTYDIFYTAA KPGTYVIYVR FGGVDIPNSP FTVMATDGEV TAVEEAPVTE EAYVPVSDMN
GLGFKPFDLV IPFAVRKGEI TGEVHMPSGK TATPEIVDNK DGTVTVRYAP TEVGLHEMHI
KYMGSHIPES PLQFYVNYPN SGSVSAYGPG LVYGVANKTA TFTIVTEDAG EGGLDLAIEG
PSKAEISCID NKDGTCTVTY LPTLPGDYSI LVKYNDKHIP GSPFTAKITD DSRRCSQVKL
GSAADFLLDI SETDLSSLTA SIKAPSGRDE PCLLKRLPNN HIGISFIPRE VGEHLVSIKK
NGNHVANSPV SIMVVQSEIG DARRAKVYGR GLSEGRTFEM SDFIVDTRDA GYGGISLAVE
GPSKVDIQTE DLEDGTCKVS YFPTVPGVYI VSTKFADEHV PGSPFTVKIS GEGRVKESIT
RTSRAPSVAT VGSICDLNLK IPEINSSDMS AHVTSPSGRV TEAEIVPMGK NSHCVRFVPQ
EMGVHTVSVK YRGQHVTGSP FQFTVGPLGE GGAHKVRAGG PGLERGEAGV PAEFSIWTRE
AGAGGLSIAV EGPSKAEITF DDHKNGSCGV SYIAQEPGNY EVSIKFNDEH IPESPYLVPV
IAPSDDARRL TVMSLQESGL KVNQPASFAI RLNGAKGKID AKVHSPSGAV EECHVSELEP
DKYAVRFIPH ENGVHTIDVK FNGSHVVGSP FKVRVGEPGQ AGNPALVSAY GTGLEGGTTG
IQSEFFINTT RAGPGTLSVT IEGPSKVKMD CQETPEGYKV MYTPMAPGNY LISVKYGGPN
HIVGSPFKAK VTGQRLVSPG SANETSSILV ESVTRSSTET CYSAIPKASS DASKVTSKGA
GLSKAFVGQK SSFLVDCSKA GSNMLLIGVH GPTTPCEEVS MKHVGNQQYN VTYVVKERGD
YVLAVKWGEE HIPGSPFHVT VP*

speed

0.59 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999433844178 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM070930)
known disease mutation: rs21296 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:58067416C>GN/A show variant in all transcripts IGV

HGNC symbol

FLNB

Ensembl transcript ID

ENST00000295956

Genbank transcript ID

NM_001457

UniProt peptide

O75369

alteration type

single base exchange

alteration region

CDS

DNA changes

c.700C>G
cDNA.865C>G
g.73290C>G

AA changes

L234V Score: 32 explain score(s)

position(s) of altered AA
if AA alteration in CDS

234

frameshift

known variant

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.571	1
	3.554	1
(flanking)	5.193	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor increased	73284	wt: 0.30 / mu: 0.98	wt: TTATGACTTACCTGT mu: TTATGACTTACGTGT	ATGA\|ctta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

234

mutated

all conserved

234

Ptroglodytes

all identical

ENSPTRG00000015054

234

Mmulatta

all identical

ENSMMUG00000000706

234

Fcatus

no alignment

ENSFCAG00000006518

n/a

Mmusculus

all identical

ENSMUSG00000025278

234

Ggallus

all identical

ENSGALG00000005678

137

Trubripes

all identical

ENSTRUG00000005042

235

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000008663

234

protein features

start (aa)	end (aa)	feature	details
1	239	DOMAIN	Actin-binding.	lost
139	239	DOMAIN	CH 2.	lost
227	234	HELIX		lost
236	239	HELIX		might get lost (downstream of altered splice site)
249	347	REPEAT	Filamin 1.	might get lost (downstream of altered splice site)
349	446	REPEAT	Filamin 2.	might get lost (downstream of altered splice site)
447	543	REPEAT	Filamin 3.	might get lost (downstream of altered splice site)
519	519	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
544	636	REPEAT	Filamin 4.	might get lost (downstream of altered splice site)
640	736	REPEAT	Filamin 5.	might get lost (downstream of altered splice site)
658	658	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
681	681	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
737	839	REPEAT	Filamin 6.	might get lost (downstream of altered splice site)
816	816	CONFLICT	A -> T (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
840	938	REPEAT	Filamin 7.	might get lost (downstream of altered splice site)
886	886	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
924	924	CONFLICT	Y -> H (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
939	1034	REPEAT	Filamin 8.	might get lost (downstream of altered splice site)
983	983	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1028	1028	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1035	1127	REPEAT	Filamin 9.	might get lost (downstream of altered splice site)
1040	1042	HELIX		might get lost (downstream of altered splice site)
1044	1047	STRAND		might get lost (downstream of altered splice site)
1048	1051	HELIX		might get lost (downstream of altered splice site)
1052	1054	STRAND		might get lost (downstream of altered splice site)
1059	1064	STRAND		might get lost (downstream of altered splice site)
1066	1068	TURN		might get lost (downstream of altered splice site)
1073	1077	STRAND		might get lost (downstream of altered splice site)
1079	1081	STRAND		might get lost (downstream of altered splice site)
1084	1089	STRAND		might get lost (downstream of altered splice site)
1091	1100	STRAND		might get lost (downstream of altered splice site)
1102	1115	STRAND		might get lost (downstream of altered splice site)
1122	1128	STRAND		might get lost (downstream of altered splice site)
1128	1222	REPEAT	Filamin 10.	might get lost (downstream of altered splice site)
1128	1511	REGION	Interaction with FBLP1.	might get lost (downstream of altered splice site)
1133	1135	HELIX		might get lost (downstream of altered splice site)
1136	1140	STRAND		might get lost (downstream of altered splice site)
1141	1143	HELIX		might get lost (downstream of altered splice site)
1154	1160	STRAND		might get lost (downstream of altered splice site)
1166	1172	STRAND		might get lost (downstream of altered splice site)
1173	1175	TURN		might get lost (downstream of altered splice site)
1179	1184	STRAND		might get lost (downstream of altered splice site)
1188	1195	STRAND		might get lost (downstream of altered splice site)
1200	1208	STRAND		might get lost (downstream of altered splice site)
1217	1223	STRAND		might get lost (downstream of altered splice site)
1223	1322	REPEAT	Filamin 11.	might get lost (downstream of altered splice site)
1232	1235	STRAND		might get lost (downstream of altered splice site)
1236	1239	HELIX		might get lost (downstream of altered splice site)
1249	1254	STRAND		might get lost (downstream of altered splice site)
1256	1258	STRAND		might get lost (downstream of altered splice site)
1273	1275	STRAND		might get lost (downstream of altered splice site)
1281	1284	STRAND		might get lost (downstream of altered splice site)
1286	1294	STRAND		might get lost (downstream of altered splice site)
1300	1310	STRAND		might get lost (downstream of altered splice site)
1316	1316	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1317	1321	STRAND		might get lost (downstream of altered splice site)
1323	1415	REPEAT	Filamin 12.	might get lost (downstream of altered splice site)
1332	1335	STRAND		might get lost (downstream of altered splice site)
1336	1339	HELIX		might get lost (downstream of altered splice site)
1347	1352	STRAND		might get lost (downstream of altered splice site)
1354	1356	TURN		might get lost (downstream of altered splice site)
1361	1369	STRAND		might get lost (downstream of altered splice site)
1374	1377	STRAND		might get lost (downstream of altered splice site)
1379	1381	STRAND		might get lost (downstream of altered splice site)
1383	1387	STRAND		might get lost (downstream of altered splice site)
1393	1401	STRAND		might get lost (downstream of altered splice site)
1410	1416	STRAND		might get lost (downstream of altered splice site)
1411	1411	CONFLICT	F -> L (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
1416	1511	REPEAT	Filamin 13.	might get lost (downstream of altered splice site)
1425	1428	STRAND		might get lost (downstream of altered splice site)
1429	1431	TURN		might get lost (downstream of altered splice site)
1433	1433	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1441	1446	STRAND		might get lost (downstream of altered splice site)
1448	1450	TURN		might get lost (downstream of altered splice site)
1455	1460	STRAND		might get lost (downstream of altered splice site)
1462	1464	STRAND		might get lost (downstream of altered splice site)
1475	1483	STRAND		might get lost (downstream of altered splice site)
1489	1501	STRAND		might get lost (downstream of altered splice site)
1505	1505	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1506	1512	STRAND		might get lost (downstream of altered splice site)
1512	1608	REPEAT	Filamin 14.	might get lost (downstream of altered splice site)
1517	1519	HELIX		might get lost (downstream of altered splice site)
1520	1524	STRAND		might get lost (downstream of altered splice site)
1525	1527	HELIX		might get lost (downstream of altered splice site)
1530	1530	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
1538	1546	STRAND		might get lost (downstream of altered splice site)
1557	1557	MOD_RES	Phosphothreonine (By similarity).	might get lost (downstream of altered splice site)
1560	1560	CONFLICT	E -> G (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
1566	1570	STRAND		might get lost (downstream of altered splice site)
1573	1580	STRAND		might get lost (downstream of altered splice site)
1586	1590	STRAND		might get lost (downstream of altered splice site)
1593	1596	STRAND		might get lost (downstream of altered splice site)
1602	1602	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1603	1609	STRAND		might get lost (downstream of altered splice site)
1609	1704	REPEAT	Filamin 15.	might get lost (downstream of altered splice site)
1618	1621	STRAND		might get lost (downstream of altered splice site)
1622	1624	HELIX		might get lost (downstream of altered splice site)
1625	1639	STRAND		might get lost (downstream of altered splice site)
1641	1643	STRAND		might get lost (downstream of altered splice site)
1648	1653	STRAND		might get lost (downstream of altered splice site)
1663	1666	STRAND		might get lost (downstream of altered splice site)
1672	1677	STRAND		might get lost (downstream of altered splice site)
1682	1692	STRAND		might get lost (downstream of altered splice site)
1684	1684	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
1699	1705	STRAND		might get lost (downstream of altered splice site)
1705	1728	REGION	Hinge 1 (By similarity).	might get lost (downstream of altered splice site)
1729	1813	REPEAT	Filamin 16.	might get lost (downstream of altered splice site)
1748	1750	STRAND		might get lost (downstream of altered splice site)
1759	1765	STRAND		might get lost (downstream of altered splice site)
1775	1778	STRAND		might get lost (downstream of altered splice site)
1780	1782	STRAND		might get lost (downstream of altered splice site)
1784	1787	STRAND		might get lost (downstream of altered splice site)
1792	1804	STRAND		might get lost (downstream of altered splice site)
1811	1816	STRAND		might get lost (downstream of altered splice site)
1816	1908	REPEAT	Filamin 17.	might get lost (downstream of altered splice site)
1825	1828	STRAND		might get lost (downstream of altered splice site)
1829	1832	HELIX		might get lost (downstream of altered splice site)
1833	1835	STRAND		might get lost (downstream of altered splice site)
1840	1845	STRAND		might get lost (downstream of altered splice site)
1854	1862	STRAND		might get lost (downstream of altered splice site)
1862	2148	REGION	Interaction with the cytoplasmic tail of GP1BA.	might get lost (downstream of altered splice site)
1872	1881	STRAND		might get lost (downstream of altered splice site)
1888	1898	STRAND		might get lost (downstream of altered splice site)
1903	1909	STRAND		might get lost (downstream of altered splice site)
1919	1994	REPEAT	Filamin 18.	might get lost (downstream of altered splice site)
1924	1927	STRAND		might get lost (downstream of altered splice site)
1941	1943	STRAND		might get lost (downstream of altered splice site)
1952	1957	STRAND		might get lost (downstream of altered splice site)
1953	1953	CONFLICT	L -> F (in Ref. 4; AAF97046).	might get lost (downstream of altered splice site)
1958	1960	TURN		might get lost (downstream of altered splice site)
1961	1966	STRAND		might get lost (downstream of altered splice site)
1972	1977	STRAND		might get lost (downstream of altered splice site)
1979	1984	STRAND		might get lost (downstream of altered splice site)
1989	1994	STRAND		might get lost (downstream of altered splice site)
1997	1999	STRAND		might get lost (downstream of altered splice site)
1997	2089	REPEAT	Filamin 19.	might get lost (downstream of altered splice site)
2002	2004	HELIX		might get lost (downstream of altered splice site)
2006	2006	CONFLICT	K -> R (in Ref. 2; AAC33845).	might get lost (downstream of altered splice site)
2006	2010	STRAND		might get lost (downstream of altered splice site)
2011	2013	TURN		might get lost (downstream of altered splice site)
2014	2016	STRAND		might get lost (downstream of altered splice site)
2021	2026	STRAND		might get lost (downstream of altered splice site)
2028	2030	TURN		might get lost (downstream of altered splice site)
2035	2043	STRAND		might get lost (downstream of altered splice site)
2057	2061	STRAND		might get lost (downstream of altered splice site)
2060	2225	REGION	Interaction with FLNA 1.	might get lost (downstream of altered splice site)
2067	2077	STRAND		might get lost (downstream of altered splice site)
2083	2083	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2084	2090	STRAND		might get lost (downstream of altered splice site)
2091	2185	REPEAT	Filamin 20.	might get lost (downstream of altered splice site)
2099	2099	CONFLICT	I -> S (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
2107	2107	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2111	2113	STRAND		might get lost (downstream of altered splice site)
2118	2120	STRAND		might get lost (downstream of altered splice site)
2126	2128	HELIX		might get lost (downstream of altered splice site)
2130	2134	STRAND		might get lost (downstream of altered splice site)
2130	2602	REGION	Interaction with INPPL1.	might get lost (downstream of altered splice site)
2140	2142	STRAND		might get lost (downstream of altered splice site)
2144	2147	STRAND		might get lost (downstream of altered splice site)
2149	2157	STRAND		might get lost (downstream of altered splice site)
2164	2175	STRAND		might get lost (downstream of altered splice site)
2170	2170	CONFLICT	K -> N (in Ref. 4; AAF97046).	might get lost (downstream of altered splice site)
2170	2170	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2180	2185	STRAND		might get lost (downstream of altered splice site)
2188	2280	REPEAT	Filamin 21.	might get lost (downstream of altered splice site)
2193	2195	HELIX		might get lost (downstream of altered splice site)
2201	2203	TURN		might get lost (downstream of altered splice site)
2206	2208	STRAND		might get lost (downstream of altered splice site)
2210	2214	STRAND		might get lost (downstream of altered splice site)
2219	2221	STRAND		might get lost (downstream of altered splice site)
2226	2234	STRAND		might get lost (downstream of altered splice site)
2236	2240	STRAND		might get lost (downstream of altered splice site)
2250	2256	STRAND		might get lost (downstream of altered splice site)
2258	2266	STRAND		might get lost (downstream of altered splice site)
2275	2281	STRAND		might get lost (downstream of altered splice site)
2282	2375	REPEAT	Filamin 22.	might get lost (downstream of altered splice site)
2288	2294	STRAND		might get lost (downstream of altered splice site)
2293	2293	CONFLICT	M -> V (in Ref. 4; AAF97046 and 7; CAE46040).	might get lost (downstream of altered splice site)
2306	2314	STRAND		might get lost (downstream of altered splice site)
2320	2324	STRAND		might get lost (downstream of altered splice site)
2330	2332	STRAND		might get lost (downstream of altered splice site)
2334	2337	STRAND		might get lost (downstream of altered splice site)
2340	2347	STRAND		might get lost (downstream of altered splice site)
2352	2365	STRAND		might get lost (downstream of altered splice site)
2354	2354	CONFLICT	V -> A (in Ref. 11; CAB70818).	might get lost (downstream of altered splice site)
2369	2369	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2370	2375	STRAND		might get lost (downstream of altered splice site)
2379	2471	REPEAT	Filamin 23.	might get lost (downstream of altered splice site)
2384	2386	TURN		might get lost (downstream of altered splice site)
2388	2392	STRAND		might get lost (downstream of altered splice site)
2393	2395	TURN		might get lost (downstream of altered splice site)
2403	2408	STRAND		might get lost (downstream of altered splice site)
2410	2412	TURN		might get lost (downstream of altered splice site)
2417	2425	STRAND		might get lost (downstream of altered splice site)
2430	2433	STRAND		might get lost (downstream of altered splice site)
2435	2442	STRAND		might get lost (downstream of altered splice site)
2448	2459	STRAND		might get lost (downstream of altered splice site)
2466	2473	STRAND		might get lost (downstream of altered splice site)
2468	2468	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ISG15).	might get lost (downstream of altered splice site)
2468	2468	MUTAGEN	K->R: Cytoplasmic localization.	might get lost (downstream of altered splice site)
2472	2506	REGION	Hinge 2 (By similarity).	might get lost (downstream of altered splice site)
2472	2602	REGION	Self-association site, tail (By similarity).	might get lost (downstream of altered splice site)
2478	2478	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2481	2481	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2487	2487	CONFLICT	S -> C (in Ref. 13; AAA35505).	might get lost (downstream of altered splice site)
2502	2502	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
2507	2601	REPEAT	Filamin 24.	might get lost (downstream of altered splice site)
2507	2602	REGION	Interaction with FLNA 2.	might get lost (downstream of altered splice site)
2512	2514	TURN		might get lost (downstream of altered splice site)
2516	2519	STRAND		might get lost (downstream of altered splice site)
2520	2523	HELIX		might get lost (downstream of altered splice site)
2531	2536	STRAND		might get lost (downstream of altered splice site)
2538	2540	TURN		might get lost (downstream of altered splice site)
2545	2547	STRAND		might get lost (downstream of altered splice site)
2557	2565	STRAND		might get lost (downstream of altered splice site)
2568	2574	STRAND		might get lost (downstream of altered splice site)
2571	2571	CONFLICT	V -> A (in Ref. 11; CAB70818).	might get lost (downstream of altered splice site)
2576	2576	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2579	2583	STRAND		might get lost (downstream of altered splice site)
2585	2591	STRAND		might get lost (downstream of altered splice site)
2596	2601	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

7809 / 7809

position (AA) of stopcodon in wt / mu AA sequence

2603 / 2603

position of stopcodon in wt / mu cDNA

7974 / 7974

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

166 / 166

chromosome

strand

last intron/exon boundary

7787

theoretical NMD boundary in CDS

7571

length of CDS

7809

coding sequence (CDS) position

700

cDNA position
(for ins/del: last normal base / first normal base)

865

gDNA position
(for ins/del: last normal base / first normal base)

73290

chromosomal position
(for ins/del: last normal base / first normal base)

58067416

original gDNA sequence snippet

AGCACTCAGTTATGACTTACCTGTCCCAGTTCCCCAAAGCC

altered gDNA sequence snippet

AGCACTCAGTTATGACTTACGTGTCCCAGTTCCCCAAAGCC

original cDNA sequence snippet

AGCACTCAGTTATGACTTACCTGTCCCAGTTCCCCAAAGCC

altered cDNA sequence snippet

AGCACTCAGTTATGACTTACGTGTCCCAGTTCCCCAAAGCC

wildtype AA sequence

MPVTEKDLAE DAPWKKIQQN TFTRWCNEHL KCVNKRIGNL QTDLSDGLRL IALLEVLSQK
RMYRKYHQRP TFRQMQLENV SVALEFLDRE SIKLVSIDSK AIVDGNLKLI LGLVWTLILH
YSISMPVWED EGDDDAKKQT PKQRLLGWIQ NKIPYLPITN FNQNWQDGKA LGALVDSCAP
GLCPDWESWD PQKPVDNARE AMQQADDWLG VPQVITPEEI IHPDVDEHSV MTYLSQFPKA
KLKPGAPLKP KLNPKKARAY GRGIEPTGNM VKQPAKFTVD TISAGQGDVM VFVEDPEGNK
EEAQVTPDSD KNKTYSVEYL PKVTGLHKVT VLFAGQHISK SPFEVSVDKA QGDASKVTAK
GPGLEAVGNI ANKPTYFDIY TAGAGVGDIG VEVEDPQGKN TVELLVEDKG NQVYRCVYKP
MQPGPHVVKI FFAGDTIPKS PFVVQVGEAC NPNACRASGR GLQPKGVRIR ETTDFKVDTK
AAGSGELGVT MKGPKGLEEL VKQKDFLDGV YAFEYYPSTP GRYSIAITWG GHHIPKSPFE
VQVGPEAGMQ KVRAWGPGLH GGIVGRSADF VVESIGSEVG SLGFAIEGPS QAKIEYNDQN
DGSCDVKYWP KEPGEYAVHI MCDDEDIKDS PYMAFIHPAT GGYNPDLVRA YGPGLEKSGC
IVNNLAEFTV DPKDAGKAPL KIFAQDGEGQ RIDIQMKNRM DGTYACSYTP VKAIKHTIAV
VWGGVNIPHS PYRVNIGQGS HPQKVKVFGP GVERSGLKAN EPTHFTVDCT EAGEGDVSVG
IKCDARVLSE DEEDVDFDII HNANDTFTVK YVPPAAGRYT IKVLFASQEI PASPFRVKVD
PSHDASKVKA EGPGLSKAGV ENGKPTHFTV YTKGAGKAPL NVQFNSPLPG DAVKDLDIID
NYDYSHTVKY TPTQQGNMQV LVTYGGDPIP KSPFTVGVAA PLDLSKIKLN GLENRVEVGK
DQEFTVDTRG AGGQGKLDVT ILSPSRKVVP CLVTPVTGRE NSTAKFIPRE EGLYAVDVTY
DGHPVPGSPY TVEASLPPDP SKVKAHGPGL EGGLVGKPAE FTIDTKGAGT GGLGLTVEGP
CEAKIECSDN GDGTCSVSYL PTKPGEYFVN ILFEEVHIPG SPFKADIEMP FDPSKVVASG
PGLEHGKVGE AGLLSVDCSE AGPGALGLEA VSDSGTKAEV SIQNNKDGTY AVTYVPLTAG
MYTLTMKYGG ELVPHFPARV KVEPAVDTSR IKVFGPGIEG KDVFREATTD FTVDSRPLTQ
VGGDHIKAHI ANPSGASTEC FVTDNADGTY QVEYTPFEKG LHVVEVTYDD VPIPNSPFKV
AVTEGCQPSR VQAQGPGLKE AFTNKPNVFT VVTRGAGIGG LGITVEGPSE SKINCRDNKD
GSCSAEYIPF APGDYDVNIT YGGAHIPGSP FRVPVKDVVD PSKVKIAGPG LGSGVRARVL
QSFTVDSSKA GLAPLEVRVL GPRGLVEPVN VVDNGDGTHT VTYTPSQEGP YMVSVKYADE
EIPRSPFKVK VLPTYDASKV TASGPGLSSY GVPASLPVDF AIDARDAGEG LLAVQITDQE
GKPKRAIVHD NKDGTYAVTY IPDKTGRYMI GVTYGGDDIP LSPYRIRATQ TGDASKCLAT
GPGIASTVKT GEEVGFVVDA KTAGKGKVTC TVLTPDGTEA EADVIENEDG TYDIFYTAAK
PGTYVIYVRF GGVDIPNSPF TVMATDGEVT AVEEAPVNAC PPGFRPWVTE EAYVPVSDMN
GLGFKPFDLV IPFAVRKGEI TGEVHMPSGK TATPEIVDNK DGTVTVRYAP TEVGLHEMHI
KYMGSHIPES PLQFYVNYPN SGSVSAYGPG LVYGVANKTA TFTIVTEDAG EGGLDLAIEG
PSKAEISCID NKDGTCTVTY LPTLPGDYSI LVKYNDKHIP GSPFTAKITD DSRRCSQVKL
GSAADFLLDI SETDLSSLTA SIKAPSGRDE PCLLKRLPNN HIGISFIPRE VGEHLVSIKK
NGNHVANSPV SIMVVQSEIG DARRAKVYGR GLSEGRTFEM SDFIVDTRDA GYGGISLAVE
GPSKVDIQTE DLEDGTCKVS YFPTVPGVYI VSTKFADEHV PGSPFTVKIS GEGRVKESIT
RTSRAPSVAT VGSICDLNLK IPEINSSDMS AHVTSPSGRV TEAEIVPMGK NSHCVRFVPQ
EMGVHTVSVK YRGQHVTGSP FQFTVGPLGE GGAHKVRAGG PGLERGEAGV PAEFSIWTRE
AGAGGLSIAV EGPSKAEITF DDHKNGSCGV SYIAQEPGNY EVSIKFNDEH IPESPYLVPV
IAPSDDARRL TVMSLQESGL KVNQPASFAI RLNGAKGKID AKVHSPSGAV EECHVSELEP
DKYAVRFIPH ENGVHTIDVK FNGSHVVGSP FKVRVGEPGQ AGNPALVSAY GTGLEGGTTG
IQSEFFINTT RAGPGTLSVT IEGPSKVKMD CQETPEGYKV MYTPMAPGNY LISVKYGGPN
HIVGSPFKAK VTGQRLVSPG SANETSSILV ESVTRSSTET CYSAIPKASS DASKVTSKGA
GLSKAFVGQK SSFLVDCSKA GSNMLLIGVH GPTTPCEEVS MKHVGNQQYN VTYVVKERGD
YVLAVKWGEE HIPGSPFHVT VP*

mutated AA sequence

MPVTEKDLAE DAPWKKIQQN TFTRWCNEHL KCVNKRIGNL QTDLSDGLRL IALLEVLSQK
RMYRKYHQRP TFRQMQLENV SVALEFLDRE SIKLVSIDSK AIVDGNLKLI LGLVWTLILH
YSISMPVWED EGDDDAKKQT PKQRLLGWIQ NKIPYLPITN FNQNWQDGKA LGALVDSCAP
GLCPDWESWD PQKPVDNARE AMQQADDWLG VPQVITPEEI IHPDVDEHSV MTYVSQFPKA
KLKPGAPLKP KLNPKKARAY GRGIEPTGNM VKQPAKFTVD TISAGQGDVM VFVEDPEGNK
EEAQVTPDSD KNKTYSVEYL PKVTGLHKVT VLFAGQHISK SPFEVSVDKA QGDASKVTAK
GPGLEAVGNI ANKPTYFDIY TAGAGVGDIG VEVEDPQGKN TVELLVEDKG NQVYRCVYKP
MQPGPHVVKI FFAGDTIPKS PFVVQVGEAC NPNACRASGR GLQPKGVRIR ETTDFKVDTK
AAGSGELGVT MKGPKGLEEL VKQKDFLDGV YAFEYYPSTP GRYSIAITWG GHHIPKSPFE
VQVGPEAGMQ KVRAWGPGLH GGIVGRSADF VVESIGSEVG SLGFAIEGPS QAKIEYNDQN
DGSCDVKYWP KEPGEYAVHI MCDDEDIKDS PYMAFIHPAT GGYNPDLVRA YGPGLEKSGC
IVNNLAEFTV DPKDAGKAPL KIFAQDGEGQ RIDIQMKNRM DGTYACSYTP VKAIKHTIAV
VWGGVNIPHS PYRVNIGQGS HPQKVKVFGP GVERSGLKAN EPTHFTVDCT EAGEGDVSVG
IKCDARVLSE DEEDVDFDII HNANDTFTVK YVPPAAGRYT IKVLFASQEI PASPFRVKVD
PSHDASKVKA EGPGLSKAGV ENGKPTHFTV YTKGAGKAPL NVQFNSPLPG DAVKDLDIID
NYDYSHTVKY TPTQQGNMQV LVTYGGDPIP KSPFTVGVAA PLDLSKIKLN GLENRVEVGK
DQEFTVDTRG AGGQGKLDVT ILSPSRKVVP CLVTPVTGRE NSTAKFIPRE EGLYAVDVTY
DGHPVPGSPY TVEASLPPDP SKVKAHGPGL EGGLVGKPAE FTIDTKGAGT GGLGLTVEGP
CEAKIECSDN GDGTCSVSYL PTKPGEYFVN ILFEEVHIPG SPFKADIEMP FDPSKVVASG
PGLEHGKVGE AGLLSVDCSE AGPGALGLEA VSDSGTKAEV SIQNNKDGTY AVTYVPLTAG
MYTLTMKYGG ELVPHFPARV KVEPAVDTSR IKVFGPGIEG KDVFREATTD FTVDSRPLTQ
VGGDHIKAHI ANPSGASTEC FVTDNADGTY QVEYTPFEKG LHVVEVTYDD VPIPNSPFKV
AVTEGCQPSR VQAQGPGLKE AFTNKPNVFT VVTRGAGIGG LGITVEGPSE SKINCRDNKD
GSCSAEYIPF APGDYDVNIT YGGAHIPGSP FRVPVKDVVD PSKVKIAGPG LGSGVRARVL
QSFTVDSSKA GLAPLEVRVL GPRGLVEPVN VVDNGDGTHT VTYTPSQEGP YMVSVKYADE
EIPRSPFKVK VLPTYDASKV TASGPGLSSY GVPASLPVDF AIDARDAGEG LLAVQITDQE
GKPKRAIVHD NKDGTYAVTY IPDKTGRYMI GVTYGGDDIP LSPYRIRATQ TGDASKCLAT
GPGIASTVKT GEEVGFVVDA KTAGKGKVTC TVLTPDGTEA EADVIENEDG TYDIFYTAAK
PGTYVIYVRF GGVDIPNSPF TVMATDGEVT AVEEAPVNAC PPGFRPWVTE EAYVPVSDMN
GLGFKPFDLV IPFAVRKGEI TGEVHMPSGK TATPEIVDNK DGTVTVRYAP TEVGLHEMHI
KYMGSHIPES PLQFYVNYPN SGSVSAYGPG LVYGVANKTA TFTIVTEDAG EGGLDLAIEG
PSKAEISCID NKDGTCTVTY LPTLPGDYSI LVKYNDKHIP GSPFTAKITD DSRRCSQVKL
GSAADFLLDI SETDLSSLTA SIKAPSGRDE PCLLKRLPNN HIGISFIPRE VGEHLVSIKK
NGNHVANSPV SIMVVQSEIG DARRAKVYGR GLSEGRTFEM SDFIVDTRDA GYGGISLAVE
GPSKVDIQTE DLEDGTCKVS YFPTVPGVYI VSTKFADEHV PGSPFTVKIS GEGRVKESIT
RTSRAPSVAT VGSICDLNLK IPEINSSDMS AHVTSPSGRV TEAEIVPMGK NSHCVRFVPQ
EMGVHTVSVK YRGQHVTGSP FQFTVGPLGE GGAHKVRAGG PGLERGEAGV PAEFSIWTRE
AGAGGLSIAV EGPSKAEITF DDHKNGSCGV SYIAQEPGNY EVSIKFNDEH IPESPYLVPV
IAPSDDARRL TVMSLQESGL KVNQPASFAI RLNGAKGKID AKVHSPSGAV EECHVSELEP
DKYAVRFIPH ENGVHTIDVK FNGSHVVGSP FKVRVGEPGQ AGNPALVSAY GTGLEGGTTG
IQSEFFINTT RAGPGTLSVT IEGPSKVKMD CQETPEGYKV MYTPMAPGNY LISVKYGGPN
HIVGSPFKAK VTGQRLVSPG SANETSSILV ESVTRSSTET CYSAIPKASS DASKVTSKGA
GLSKAFVGQK SSFLVDCSKA GSNMLLIGVH GPTTPCEEVS MKHVGNQQYN VTYVVKERGD
YVLAVKWGEE HIPGSPFHVT VP*

speed

0.57 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999433844178 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM070930)
known disease mutation: rs21296 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:58067416C>GN/A show variant in all transcripts IGV

HGNC symbol

FLNB

Ensembl transcript ID

ENST00000490882

Genbank transcript ID

NM_001164317

UniProt peptide

O75369

alteration type

single base exchange

alteration region

CDS

DNA changes

c.700C>G
cDNA.865C>G
g.73290C>G

AA changes

L234V Score: 32 explain score(s)

position(s) of altered AA
if AA alteration in CDS

234

frameshift

known variant

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.571	1
	3.554	1
(flanking)	5.193	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor increased	73284	wt: 0.30 / mu: 0.98	wt: TTATGACTTACCTGT mu: TTATGACTTACGTGT	ATGA\|ctta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

234

mutated

all conserved

234

Ptroglodytes

all identical

ENSPTRG00000015054

234

Mmulatta

all identical

ENSMMUG00000000706

234

Fcatus

no alignment

ENSFCAG00000006518

n/a

Mmusculus

all identical

ENSMUSG00000025278

234

Ggallus

all identical

ENSGALG00000005678

137

Trubripes

all identical

ENSTRUG00000005042

235

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000008663

234

protein features

start (aa)	end (aa)	feature	details
1	239	DOMAIN	Actin-binding.	lost
139	239	DOMAIN	CH 2.	lost
227	234	HELIX		lost
236	239	HELIX		might get lost (downstream of altered splice site)
249	347	REPEAT	Filamin 1.	might get lost (downstream of altered splice site)
349	446	REPEAT	Filamin 2.	might get lost (downstream of altered splice site)
447	543	REPEAT	Filamin 3.	might get lost (downstream of altered splice site)
519	519	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
544	636	REPEAT	Filamin 4.	might get lost (downstream of altered splice site)
640	736	REPEAT	Filamin 5.	might get lost (downstream of altered splice site)
658	658	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
681	681	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
737	839	REPEAT	Filamin 6.	might get lost (downstream of altered splice site)
816	816	CONFLICT	A -> T (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
840	938	REPEAT	Filamin 7.	might get lost (downstream of altered splice site)
886	886	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
924	924	CONFLICT	Y -> H (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
939	1034	REPEAT	Filamin 8.	might get lost (downstream of altered splice site)
983	983	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1028	1028	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1035	1127	REPEAT	Filamin 9.	might get lost (downstream of altered splice site)
1040	1042	HELIX		might get lost (downstream of altered splice site)
1044	1047	STRAND		might get lost (downstream of altered splice site)
1048	1051	HELIX		might get lost (downstream of altered splice site)
1052	1054	STRAND		might get lost (downstream of altered splice site)
1059	1064	STRAND		might get lost (downstream of altered splice site)
1066	1068	TURN		might get lost (downstream of altered splice site)
1073	1077	STRAND		might get lost (downstream of altered splice site)
1079	1081	STRAND		might get lost (downstream of altered splice site)
1084	1089	STRAND		might get lost (downstream of altered splice site)
1091	1100	STRAND		might get lost (downstream of altered splice site)
1102	1115	STRAND		might get lost (downstream of altered splice site)
1122	1128	STRAND		might get lost (downstream of altered splice site)
1128	1222	REPEAT	Filamin 10.	might get lost (downstream of altered splice site)
1128	1511	REGION	Interaction with FBLP1.	might get lost (downstream of altered splice site)
1133	1135	HELIX		might get lost (downstream of altered splice site)
1136	1140	STRAND		might get lost (downstream of altered splice site)
1141	1143	HELIX		might get lost (downstream of altered splice site)
1154	1160	STRAND		might get lost (downstream of altered splice site)
1166	1172	STRAND		might get lost (downstream of altered splice site)
1173	1175	TURN		might get lost (downstream of altered splice site)
1179	1184	STRAND		might get lost (downstream of altered splice site)
1188	1195	STRAND		might get lost (downstream of altered splice site)
1200	1208	STRAND		might get lost (downstream of altered splice site)
1217	1223	STRAND		might get lost (downstream of altered splice site)
1223	1322	REPEAT	Filamin 11.	might get lost (downstream of altered splice site)
1232	1235	STRAND		might get lost (downstream of altered splice site)
1236	1239	HELIX		might get lost (downstream of altered splice site)
1249	1254	STRAND		might get lost (downstream of altered splice site)
1256	1258	STRAND		might get lost (downstream of altered splice site)
1273	1275	STRAND		might get lost (downstream of altered splice site)
1281	1284	STRAND		might get lost (downstream of altered splice site)
1286	1294	STRAND		might get lost (downstream of altered splice site)
1300	1310	STRAND		might get lost (downstream of altered splice site)
1316	1316	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1317	1321	STRAND		might get lost (downstream of altered splice site)
1323	1415	REPEAT	Filamin 12.	might get lost (downstream of altered splice site)
1332	1335	STRAND		might get lost (downstream of altered splice site)
1336	1339	HELIX		might get lost (downstream of altered splice site)
1347	1352	STRAND		might get lost (downstream of altered splice site)
1354	1356	TURN		might get lost (downstream of altered splice site)
1361	1369	STRAND		might get lost (downstream of altered splice site)
1374	1377	STRAND		might get lost (downstream of altered splice site)
1379	1381	STRAND		might get lost (downstream of altered splice site)
1383	1387	STRAND		might get lost (downstream of altered splice site)
1393	1401	STRAND		might get lost (downstream of altered splice site)
1410	1416	STRAND		might get lost (downstream of altered splice site)
1411	1411	CONFLICT	F -> L (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
1416	1511	REPEAT	Filamin 13.	might get lost (downstream of altered splice site)
1425	1428	STRAND		might get lost (downstream of altered splice site)
1429	1431	TURN		might get lost (downstream of altered splice site)
1433	1433	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1441	1446	STRAND		might get lost (downstream of altered splice site)
1448	1450	TURN		might get lost (downstream of altered splice site)
1455	1460	STRAND		might get lost (downstream of altered splice site)
1462	1464	STRAND		might get lost (downstream of altered splice site)
1475	1483	STRAND		might get lost (downstream of altered splice site)
1489	1501	STRAND		might get lost (downstream of altered splice site)
1505	1505	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1506	1512	STRAND		might get lost (downstream of altered splice site)
1512	1608	REPEAT	Filamin 14.	might get lost (downstream of altered splice site)
1517	1519	HELIX		might get lost (downstream of altered splice site)
1520	1524	STRAND		might get lost (downstream of altered splice site)
1525	1527	HELIX		might get lost (downstream of altered splice site)
1530	1530	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
1538	1546	STRAND		might get lost (downstream of altered splice site)
1557	1557	MOD_RES	Phosphothreonine (By similarity).	might get lost (downstream of altered splice site)
1560	1560	CONFLICT	E -> G (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
1566	1570	STRAND		might get lost (downstream of altered splice site)
1573	1580	STRAND		might get lost (downstream of altered splice site)
1586	1590	STRAND		might get lost (downstream of altered splice site)
1593	1596	STRAND		might get lost (downstream of altered splice site)
1602	1602	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1603	1609	STRAND		might get lost (downstream of altered splice site)
1609	1704	REPEAT	Filamin 15.	might get lost (downstream of altered splice site)
1618	1621	STRAND		might get lost (downstream of altered splice site)
1622	1624	HELIX		might get lost (downstream of altered splice site)
1625	1639	STRAND		might get lost (downstream of altered splice site)
1641	1643	STRAND		might get lost (downstream of altered splice site)
1648	1653	STRAND		might get lost (downstream of altered splice site)
1663	1666	STRAND		might get lost (downstream of altered splice site)
1672	1677	STRAND		might get lost (downstream of altered splice site)
1682	1692	STRAND		might get lost (downstream of altered splice site)
1684	1684	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
1699	1705	STRAND		might get lost (downstream of altered splice site)
1705	1728	REGION	Hinge 1 (By similarity).	might get lost (downstream of altered splice site)
1729	1813	REPEAT	Filamin 16.	might get lost (downstream of altered splice site)
1748	1750	STRAND		might get lost (downstream of altered splice site)
1759	1765	STRAND		might get lost (downstream of altered splice site)
1775	1778	STRAND		might get lost (downstream of altered splice site)
1780	1782	STRAND		might get lost (downstream of altered splice site)
1784	1787	STRAND		might get lost (downstream of altered splice site)
1792	1804	STRAND		might get lost (downstream of altered splice site)
1811	1816	STRAND		might get lost (downstream of altered splice site)
1816	1908	REPEAT	Filamin 17.	might get lost (downstream of altered splice site)
1825	1828	STRAND		might get lost (downstream of altered splice site)
1829	1832	HELIX		might get lost (downstream of altered splice site)
1833	1835	STRAND		might get lost (downstream of altered splice site)
1840	1845	STRAND		might get lost (downstream of altered splice site)
1854	1862	STRAND		might get lost (downstream of altered splice site)
1862	2148	REGION	Interaction with the cytoplasmic tail of GP1BA.	might get lost (downstream of altered splice site)
1872	1881	STRAND		might get lost (downstream of altered splice site)
1888	1898	STRAND		might get lost (downstream of altered splice site)
1903	1909	STRAND		might get lost (downstream of altered splice site)
1919	1994	REPEAT	Filamin 18.	might get lost (downstream of altered splice site)
1924	1927	STRAND		might get lost (downstream of altered splice site)
1941	1943	STRAND		might get lost (downstream of altered splice site)
1952	1957	STRAND		might get lost (downstream of altered splice site)
1953	1953	CONFLICT	L -> F (in Ref. 4; AAF97046).	might get lost (downstream of altered splice site)
1958	1960	TURN		might get lost (downstream of altered splice site)
1961	1966	STRAND		might get lost (downstream of altered splice site)
1972	1977	STRAND		might get lost (downstream of altered splice site)
1979	1984	STRAND		might get lost (downstream of altered splice site)
1989	1994	STRAND		might get lost (downstream of altered splice site)
1997	1999	STRAND		might get lost (downstream of altered splice site)
1997	2089	REPEAT	Filamin 19.	might get lost (downstream of altered splice site)
2002	2004	HELIX		might get lost (downstream of altered splice site)
2006	2006	CONFLICT	K -> R (in Ref. 2; AAC33845).	might get lost (downstream of altered splice site)
2006	2010	STRAND		might get lost (downstream of altered splice site)
2011	2013	TURN		might get lost (downstream of altered splice site)
2014	2016	STRAND		might get lost (downstream of altered splice site)
2021	2026	STRAND		might get lost (downstream of altered splice site)
2028	2030	TURN		might get lost (downstream of altered splice site)
2035	2043	STRAND		might get lost (downstream of altered splice site)
2057	2061	STRAND		might get lost (downstream of altered splice site)
2060	2225	REGION	Interaction with FLNA 1.	might get lost (downstream of altered splice site)
2067	2077	STRAND		might get lost (downstream of altered splice site)
2083	2083	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2084	2090	STRAND		might get lost (downstream of altered splice site)
2091	2185	REPEAT	Filamin 20.	might get lost (downstream of altered splice site)
2099	2099	CONFLICT	I -> S (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
2107	2107	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2111	2113	STRAND		might get lost (downstream of altered splice site)
2118	2120	STRAND		might get lost (downstream of altered splice site)
2126	2128	HELIX		might get lost (downstream of altered splice site)
2130	2134	STRAND		might get lost (downstream of altered splice site)
2130	2602	REGION	Interaction with INPPL1.	might get lost (downstream of altered splice site)
2140	2142	STRAND		might get lost (downstream of altered splice site)
2144	2147	STRAND		might get lost (downstream of altered splice site)
2149	2157	STRAND		might get lost (downstream of altered splice site)
2164	2175	STRAND		might get lost (downstream of altered splice site)
2170	2170	CONFLICT	K -> N (in Ref. 4; AAF97046).	might get lost (downstream of altered splice site)
2170	2170	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2180	2185	STRAND		might get lost (downstream of altered splice site)
2188	2280	REPEAT	Filamin 21.	might get lost (downstream of altered splice site)
2193	2195	HELIX		might get lost (downstream of altered splice site)
2201	2203	TURN		might get lost (downstream of altered splice site)
2206	2208	STRAND		might get lost (downstream of altered splice site)
2210	2214	STRAND		might get lost (downstream of altered splice site)
2219	2221	STRAND		might get lost (downstream of altered splice site)
2226	2234	STRAND		might get lost (downstream of altered splice site)
2236	2240	STRAND		might get lost (downstream of altered splice site)
2250	2256	STRAND		might get lost (downstream of altered splice site)
2258	2266	STRAND		might get lost (downstream of altered splice site)
2275	2281	STRAND		might get lost (downstream of altered splice site)
2282	2375	REPEAT	Filamin 22.	might get lost (downstream of altered splice site)
2288	2294	STRAND		might get lost (downstream of altered splice site)
2293	2293	CONFLICT	M -> V (in Ref. 4; AAF97046 and 7; CAE46040).	might get lost (downstream of altered splice site)
2306	2314	STRAND		might get lost (downstream of altered splice site)
2320	2324	STRAND		might get lost (downstream of altered splice site)
2330	2332	STRAND		might get lost (downstream of altered splice site)
2334	2337	STRAND		might get lost (downstream of altered splice site)
2340	2347	STRAND		might get lost (downstream of altered splice site)
2352	2365	STRAND		might get lost (downstream of altered splice site)
2354	2354	CONFLICT	V -> A (in Ref. 11; CAB70818).	might get lost (downstream of altered splice site)
2369	2369	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2370	2375	STRAND		might get lost (downstream of altered splice site)
2379	2471	REPEAT	Filamin 23.	might get lost (downstream of altered splice site)
2384	2386	TURN		might get lost (downstream of altered splice site)
2388	2392	STRAND		might get lost (downstream of altered splice site)
2393	2395	TURN		might get lost (downstream of altered splice site)
2403	2408	STRAND		might get lost (downstream of altered splice site)
2410	2412	TURN		might get lost (downstream of altered splice site)
2417	2425	STRAND		might get lost (downstream of altered splice site)
2430	2433	STRAND		might get lost (downstream of altered splice site)
2435	2442	STRAND		might get lost (downstream of altered splice site)
2448	2459	STRAND		might get lost (downstream of altered splice site)
2466	2473	STRAND		might get lost (downstream of altered splice site)
2468	2468	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ISG15).	might get lost (downstream of altered splice site)
2468	2468	MUTAGEN	K->R: Cytoplasmic localization.	might get lost (downstream of altered splice site)
2472	2506	REGION	Hinge 2 (By similarity).	might get lost (downstream of altered splice site)
2472	2602	REGION	Self-association site, tail (By similarity).	might get lost (downstream of altered splice site)
2478	2478	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2481	2481	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2487	2487	CONFLICT	S -> C (in Ref. 13; AAA35505).	might get lost (downstream of altered splice site)
2502	2502	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
2507	2601	REPEAT	Filamin 24.	might get lost (downstream of altered splice site)
2507	2602	REGION	Interaction with FLNA 2.	might get lost (downstream of altered splice site)
2512	2514	TURN		might get lost (downstream of altered splice site)
2516	2519	STRAND		might get lost (downstream of altered splice site)
2520	2523	HELIX		might get lost (downstream of altered splice site)
2531	2536	STRAND		might get lost (downstream of altered splice site)
2538	2540	TURN		might get lost (downstream of altered splice site)
2545	2547	STRAND		might get lost (downstream of altered splice site)
2557	2565	STRAND		might get lost (downstream of altered splice site)
2568	2574	STRAND		might get lost (downstream of altered splice site)
2571	2571	CONFLICT	V -> A (in Ref. 11; CAB70818).	might get lost (downstream of altered splice site)
2576	2576	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2579	2583	STRAND		might get lost (downstream of altered splice site)
2585	2591	STRAND		might get lost (downstream of altered splice site)
2596	2601	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

7902 / 7902

position (AA) of stopcodon in wt / mu AA sequence

2634 / 2634

position of stopcodon in wt / mu cDNA

8067 / 8067

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

166 / 166

chromosome

strand

last intron/exon boundary

7880

theoretical NMD boundary in CDS

7664

length of CDS

7902

coding sequence (CDS) position

700

cDNA position
(for ins/del: last normal base / first normal base)

865

gDNA position
(for ins/del: last normal base / first normal base)

73290

chromosomal position
(for ins/del: last normal base / first normal base)

58067416

original gDNA sequence snippet

AGCACTCAGTTATGACTTACCTGTCCCAGTTCCCCAAAGCC

altered gDNA sequence snippet

AGCACTCAGTTATGACTTACGTGTCCCAGTTCCCCAAAGCC

original cDNA sequence snippet

AGCACTCAGTTATGACTTACCTGTCCCAGTTCCCCAAAGCC

altered cDNA sequence snippet

AGCACTCAGTTATGACTTACGTGTCCCAGTTCCCCAAAGCC

wildtype AA sequence

MPVTEKDLAE DAPWKKIQQN TFTRWCNEHL KCVNKRIGNL QTDLSDGLRL IALLEVLSQK
RMYRKYHQRP TFRQMQLENV SVALEFLDRE SIKLVSIDSK AIVDGNLKLI LGLVWTLILH
YSISMPVWED EGDDDAKKQT PKQRLLGWIQ NKIPYLPITN FNQNWQDGKA LGALVDSCAP
GLCPDWESWD PQKPVDNARE AMQQADDWLG VPQVITPEEI IHPDVDEHSV MTYLSQFPKA
KLKPGAPLKP KLNPKKARAY GRGIEPTGNM VKQPAKFTVD TISAGQGDVM VFVEDPEGNK
EEAQVTPDSD KNKTYSVEYL PKVTGLHKVT VLFAGQHISK SPFEVSVDKA QGDASKVTAK
GPGLEAVGNI ANKPTYFDIY TAGAGVGDIG VEVEDPQGKN TVELLVEDKG NQVYRCVYKP
MQPGPHVVKI FFAGDTIPKS PFVVQVGEAC NPNACRASGR GLQPKGVRIR ETTDFKVDTK
AAGSGELGVT MKGPKGLEEL VKQKDFLDGV YAFEYYPSTP GRYSIAITWG GHHIPKSPFE
VQVGPEAGMQ KVRAWGPGLH GGIVGRSADF VVESIGSEVG SLGFAIEGPS QAKIEYNDQN
DGSCDVKYWP KEPGEYAVHI MCDDEDIKDS PYMAFIHPAT GGYNPDLVRA YGPGLEKSGC
IVNNLAEFTV DPKDAGKAPL KIFAQDGEGQ RIDIQMKNRM DGTYACSYTP VKAIKHTIAV
VWGGVNIPHS PYRVNIGQGS HPQKVKVFGP GVERSGLKAN EPTHFTVDCT EAGEGDVSVG
IKCDARVLSE DEEDVDFDII HNANDTFTVK YVPPAAGRYT IKVLFASQEI PASPFRVKVD
PSHDASKVKA EGPGLSKAGV ENGKPTHFTV YTKGAGKAPL NVQFNSPLPG DAVKDLDIID
NYDYSHTVKY TPTQQGNMQV LVTYGGDPIP KSPFTVGVAA PLDLSKIKLN GLENRVEVGK
DQEFTVDTRG AGGQGKLDVT ILSPSRKVVP CLVTPVTGRE NSTAKFIPRE EGLYAVDVTY
DGHPVPGSPY TVEASLPPDP SKVKAHGPGL EGGLVGKPAE FTIDTKGAGT GGLGLTVEGP
CEAKIECSDN GDGTCSVSYL PTKPGEYFVN ILFEEVHIPG SPFKADIEMP FDPSKVVASG
PGLEHGKVGE AGLLSVDCSE AGPGALGLEA VSDSGTKAEV SIQNNKDGTY AVTYVPLTAG
MYTLTMKYGG ELVPHFPARV KVEPAVDTSR IKVFGPGIEG KDVFREATTD FTVDSRPLTQ
VGGDHIKAHI ANPSGASTEC FVTDNADGTY QVEYTPFEKG LHVVEVTYDD VPIPNSPFKV
AVTEGCQPSR VQAQGPGLKE AFTNKPNVFT VVTRGAGIGG LGITVEGPSE SKINCRDNKD
GSCSAEYIPF APGDYDVNIT YGGAHIPGSP FRVPVKDVVD PSKVKIAGPG LGSGVRARVL
QSFTVDSSKA GLAPLEVRVL GPRADDTDSQ SWRSPLKALS EFFKGDPKGD FNKTGLVEPV
NVVDNGDGTH TVTYTPSQEG PYMVSVKYAD EEIPRSPFKV KVLPTYDASK VTASGPGLSS
YGVPASLPVD FAIDARDAGE GLLAVQITDQ EGKPKRAIVH DNKDGTYAVT YIPDKTGRYM
IGVTYGGDDI PLSPYRIRAT QTGDASKCLA TGPGIASTVK TGEEVGFVVD AKTAGKGKVT
CTVLTPDGTE AEADVIENED GTYDIFYTAA KPGTYVIYVR FGGVDIPNSP FTVMATDGEV
TAVEEAPVNA CPPGFRPWVT EEAYVPVSDM NGLGFKPFDL VIPFAVRKGE ITGEVHMPSG
KTATPEIVDN KDGTVTVRYA PTEVGLHEMH IKYMGSHIPE SPLQFYVNYP NSGSVSAYGP
GLVYGVANKT ATFTIVTEDA GEGGLDLAIE GPSKAEISCI DNKDGTCTVT YLPTLPGDYS
ILVKYNDKHI PGSPFTAKIT DDSRRCSQVK LGSAADFLLD ISETDLSSLT ASIKAPSGRD
EPCLLKRLPN NHIGISFIPR EVGEHLVSIK KNGNHVANSP VSIMVVQSEI GDARRAKVYG
RGLSEGRTFE MSDFIVDTRD AGYGGISLAV EGPSKVDIQT EDLEDGTCKV SYFPTVPGVY
IVSTKFADEH VPGSPFTVKI SGEGRVKESI TRTSRAPSVA TVGSICDLNL KIPEINSSDM
SAHVTSPSGR VTEAEIVPMG KNSHCVRFVP QEMGVHTVSV KYRGQHVTGS PFQFTVGPLG
EGGAHKVRAG GPGLERGEAG VPAEFSIWTR EAGAGGLSIA VEGPSKAEIT FDDHKNGSCG
VSYIAQEPGN YEVSIKFNDE HIPESPYLVP VIAPSDDARR LTVMSLQESG LKVNQPASFA
IRLNGAKGKI DAKVHSPSGA VEECHVSELE PDKYAVRFIP HENGVHTIDV KFNGSHVVGS
PFKVRVGEPG QAGNPALVSA YGTGLEGGTT GIQSEFFINT TRAGPGTLSV TIEGPSKVKM
DCQETPEGYK VMYTPMAPGN YLISVKYGGP NHIVGSPFKA KVTGQRLVSP GSANETSSIL
VESVTRSSTE TCYSAIPKAS SDASKVTSKG AGLSKAFVGQ KSSFLVDCSK AGSNMLLIGV
HGPTTPCEEV SMKHVGNQQY NVTYVVKERG DYVLAVKWGE EHIPGSPFHV TVP*

mutated AA sequence

MPVTEKDLAE DAPWKKIQQN TFTRWCNEHL KCVNKRIGNL QTDLSDGLRL IALLEVLSQK
RMYRKYHQRP TFRQMQLENV SVALEFLDRE SIKLVSIDSK AIVDGNLKLI LGLVWTLILH
YSISMPVWED EGDDDAKKQT PKQRLLGWIQ NKIPYLPITN FNQNWQDGKA LGALVDSCAP
GLCPDWESWD PQKPVDNARE AMQQADDWLG VPQVITPEEI IHPDVDEHSV MTYVSQFPKA
KLKPGAPLKP KLNPKKARAY GRGIEPTGNM VKQPAKFTVD TISAGQGDVM VFVEDPEGNK
EEAQVTPDSD KNKTYSVEYL PKVTGLHKVT VLFAGQHISK SPFEVSVDKA QGDASKVTAK
GPGLEAVGNI ANKPTYFDIY TAGAGVGDIG VEVEDPQGKN TVELLVEDKG NQVYRCVYKP
MQPGPHVVKI FFAGDTIPKS PFVVQVGEAC NPNACRASGR GLQPKGVRIR ETTDFKVDTK
AAGSGELGVT MKGPKGLEEL VKQKDFLDGV YAFEYYPSTP GRYSIAITWG GHHIPKSPFE
VQVGPEAGMQ KVRAWGPGLH GGIVGRSADF VVESIGSEVG SLGFAIEGPS QAKIEYNDQN
DGSCDVKYWP KEPGEYAVHI MCDDEDIKDS PYMAFIHPAT GGYNPDLVRA YGPGLEKSGC
IVNNLAEFTV DPKDAGKAPL KIFAQDGEGQ RIDIQMKNRM DGTYACSYTP VKAIKHTIAV
VWGGVNIPHS PYRVNIGQGS HPQKVKVFGP GVERSGLKAN EPTHFTVDCT EAGEGDVSVG
IKCDARVLSE DEEDVDFDII HNANDTFTVK YVPPAAGRYT IKVLFASQEI PASPFRVKVD
PSHDASKVKA EGPGLSKAGV ENGKPTHFTV YTKGAGKAPL NVQFNSPLPG DAVKDLDIID
NYDYSHTVKY TPTQQGNMQV LVTYGGDPIP KSPFTVGVAA PLDLSKIKLN GLENRVEVGK
DQEFTVDTRG AGGQGKLDVT ILSPSRKVVP CLVTPVTGRE NSTAKFIPRE EGLYAVDVTY
DGHPVPGSPY TVEASLPPDP SKVKAHGPGL EGGLVGKPAE FTIDTKGAGT GGLGLTVEGP
CEAKIECSDN GDGTCSVSYL PTKPGEYFVN ILFEEVHIPG SPFKADIEMP FDPSKVVASG
PGLEHGKVGE AGLLSVDCSE AGPGALGLEA VSDSGTKAEV SIQNNKDGTY AVTYVPLTAG
MYTLTMKYGG ELVPHFPARV KVEPAVDTSR IKVFGPGIEG KDVFREATTD FTVDSRPLTQ
VGGDHIKAHI ANPSGASTEC FVTDNADGTY QVEYTPFEKG LHVVEVTYDD VPIPNSPFKV
AVTEGCQPSR VQAQGPGLKE AFTNKPNVFT VVTRGAGIGG LGITVEGPSE SKINCRDNKD
GSCSAEYIPF APGDYDVNIT YGGAHIPGSP FRVPVKDVVD PSKVKIAGPG LGSGVRARVL
QSFTVDSSKA GLAPLEVRVL GPRADDTDSQ SWRSPLKALS EFFKGDPKGD FNKTGLVEPV
NVVDNGDGTH TVTYTPSQEG PYMVSVKYAD EEIPRSPFKV KVLPTYDASK VTASGPGLSS
YGVPASLPVD FAIDARDAGE GLLAVQITDQ EGKPKRAIVH DNKDGTYAVT YIPDKTGRYM
IGVTYGGDDI PLSPYRIRAT QTGDASKCLA TGPGIASTVK TGEEVGFVVD AKTAGKGKVT
CTVLTPDGTE AEADVIENED GTYDIFYTAA KPGTYVIYVR FGGVDIPNSP FTVMATDGEV
TAVEEAPVNA CPPGFRPWVT EEAYVPVSDM NGLGFKPFDL VIPFAVRKGE ITGEVHMPSG
KTATPEIVDN KDGTVTVRYA PTEVGLHEMH IKYMGSHIPE SPLQFYVNYP NSGSVSAYGP
GLVYGVANKT ATFTIVTEDA GEGGLDLAIE GPSKAEISCI DNKDGTCTVT YLPTLPGDYS
ILVKYNDKHI PGSPFTAKIT DDSRRCSQVK LGSAADFLLD ISETDLSSLT ASIKAPSGRD
EPCLLKRLPN NHIGISFIPR EVGEHLVSIK KNGNHVANSP VSIMVVQSEI GDARRAKVYG
RGLSEGRTFE MSDFIVDTRD AGYGGISLAV EGPSKVDIQT EDLEDGTCKV SYFPTVPGVY
IVSTKFADEH VPGSPFTVKI SGEGRVKESI TRTSRAPSVA TVGSICDLNL KIPEINSSDM
SAHVTSPSGR VTEAEIVPMG KNSHCVRFVP QEMGVHTVSV KYRGQHVTGS PFQFTVGPLG
EGGAHKVRAG GPGLERGEAG VPAEFSIWTR EAGAGGLSIA VEGPSKAEIT FDDHKNGSCG
VSYIAQEPGN YEVSIKFNDE HIPESPYLVP VIAPSDDARR LTVMSLQESG LKVNQPASFA
IRLNGAKGKI DAKVHSPSGA VEECHVSELE PDKYAVRFIP HENGVHTIDV KFNGSHVVGS
PFKVRVGEPG QAGNPALVSA YGTGLEGGTT GIQSEFFINT TRAGPGTLSV TIEGPSKVKM
DCQETPEGYK VMYTPMAPGN YLISVKYGGP NHIVGSPFKA KVTGQRLVSP GSANETSSIL
VESVTRSSTE TCYSAIPKAS SDASKVTSKG AGLSKAFVGQ KSSFLVDCSK AGSNMLLIGV
HGPTTPCEEV SMKHVGNQQY NVTYVVKERG DYVLAVKWGE EHIPGSPFHV TVP*

speed

0.65 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999433844178 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM070930)
known disease mutation: rs21296 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:58067416C>GN/A show variant in all transcripts IGV

HGNC symbol

FLNB

Ensembl transcript ID

ENST00000358537

Genbank transcript ID

NM_001164319

UniProt peptide

O75369

alteration type

single base exchange

alteration region

CDS

DNA changes

c.700C>G
cDNA.865C>G
g.73290C>G

AA changes

L234V Score: 32 explain score(s)

position(s) of altered AA
if AA alteration in CDS

234

frameshift

known variant

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.571	1
	3.554	1
(flanking)	5.193	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor increased	73284	wt: 0.30 / mu: 0.98	wt: TTATGACTTACCTGT mu: TTATGACTTACGTGT	ATGA\|ctta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

234

mutated

all conserved

234

Ptroglodytes

all identical

ENSPTRG00000015054

234

Mmulatta

all identical

ENSMMUG00000000706

234

Fcatus

no alignment

ENSFCAG00000006518

n/a

Mmusculus

all identical

ENSMUSG00000025278

234

Ggallus

all identical

ENSGALG00000005678

137

Trubripes

all identical

ENSTRUG00000005042

235

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000008663

234

protein features

start (aa)	end (aa)	feature	details
1	239	DOMAIN	Actin-binding.	lost
139	239	DOMAIN	CH 2.	lost
227	234	HELIX		lost
236	239	HELIX		might get lost (downstream of altered splice site)
249	347	REPEAT	Filamin 1.	might get lost (downstream of altered splice site)
349	446	REPEAT	Filamin 2.	might get lost (downstream of altered splice site)
447	543	REPEAT	Filamin 3.	might get lost (downstream of altered splice site)
519	519	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
544	636	REPEAT	Filamin 4.	might get lost (downstream of altered splice site)
640	736	REPEAT	Filamin 5.	might get lost (downstream of altered splice site)
658	658	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
681	681	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
737	839	REPEAT	Filamin 6.	might get lost (downstream of altered splice site)
816	816	CONFLICT	A -> T (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
840	938	REPEAT	Filamin 7.	might get lost (downstream of altered splice site)
886	886	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
924	924	CONFLICT	Y -> H (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
939	1034	REPEAT	Filamin 8.	might get lost (downstream of altered splice site)
983	983	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1028	1028	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1035	1127	REPEAT	Filamin 9.	might get lost (downstream of altered splice site)
1040	1042	HELIX		might get lost (downstream of altered splice site)
1044	1047	STRAND		might get lost (downstream of altered splice site)
1048	1051	HELIX		might get lost (downstream of altered splice site)
1052	1054	STRAND		might get lost (downstream of altered splice site)
1059	1064	STRAND		might get lost (downstream of altered splice site)
1066	1068	TURN		might get lost (downstream of altered splice site)
1073	1077	STRAND		might get lost (downstream of altered splice site)
1079	1081	STRAND		might get lost (downstream of altered splice site)
1084	1089	STRAND		might get lost (downstream of altered splice site)
1091	1100	STRAND		might get lost (downstream of altered splice site)
1102	1115	STRAND		might get lost (downstream of altered splice site)
1122	1128	STRAND		might get lost (downstream of altered splice site)
1128	1222	REPEAT	Filamin 10.	might get lost (downstream of altered splice site)
1128	1511	REGION	Interaction with FBLP1.	might get lost (downstream of altered splice site)
1133	1135	HELIX		might get lost (downstream of altered splice site)
1136	1140	STRAND		might get lost (downstream of altered splice site)
1141	1143	HELIX		might get lost (downstream of altered splice site)
1154	1160	STRAND		might get lost (downstream of altered splice site)
1166	1172	STRAND		might get lost (downstream of altered splice site)
1173	1175	TURN		might get lost (downstream of altered splice site)
1179	1184	STRAND		might get lost (downstream of altered splice site)
1188	1195	STRAND		might get lost (downstream of altered splice site)
1200	1208	STRAND		might get lost (downstream of altered splice site)
1217	1223	STRAND		might get lost (downstream of altered splice site)
1223	1322	REPEAT	Filamin 11.	might get lost (downstream of altered splice site)
1232	1235	STRAND		might get lost (downstream of altered splice site)
1236	1239	HELIX		might get lost (downstream of altered splice site)
1249	1254	STRAND		might get lost (downstream of altered splice site)
1256	1258	STRAND		might get lost (downstream of altered splice site)
1273	1275	STRAND		might get lost (downstream of altered splice site)
1281	1284	STRAND		might get lost (downstream of altered splice site)
1286	1294	STRAND		might get lost (downstream of altered splice site)
1300	1310	STRAND		might get lost (downstream of altered splice site)
1316	1316	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1317	1321	STRAND		might get lost (downstream of altered splice site)
1323	1415	REPEAT	Filamin 12.	might get lost (downstream of altered splice site)
1332	1335	STRAND		might get lost (downstream of altered splice site)
1336	1339	HELIX		might get lost (downstream of altered splice site)
1347	1352	STRAND		might get lost (downstream of altered splice site)
1354	1356	TURN		might get lost (downstream of altered splice site)
1361	1369	STRAND		might get lost (downstream of altered splice site)
1374	1377	STRAND		might get lost (downstream of altered splice site)
1379	1381	STRAND		might get lost (downstream of altered splice site)
1383	1387	STRAND		might get lost (downstream of altered splice site)
1393	1401	STRAND		might get lost (downstream of altered splice site)
1410	1416	STRAND		might get lost (downstream of altered splice site)
1411	1411	CONFLICT	F -> L (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
1416	1511	REPEAT	Filamin 13.	might get lost (downstream of altered splice site)
1425	1428	STRAND		might get lost (downstream of altered splice site)
1429	1431	TURN		might get lost (downstream of altered splice site)
1433	1433	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1441	1446	STRAND		might get lost (downstream of altered splice site)
1448	1450	TURN		might get lost (downstream of altered splice site)
1455	1460	STRAND		might get lost (downstream of altered splice site)
1462	1464	STRAND		might get lost (downstream of altered splice site)
1475	1483	STRAND		might get lost (downstream of altered splice site)
1489	1501	STRAND		might get lost (downstream of altered splice site)
1505	1505	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1506	1512	STRAND		might get lost (downstream of altered splice site)
1512	1608	REPEAT	Filamin 14.	might get lost (downstream of altered splice site)
1517	1519	HELIX		might get lost (downstream of altered splice site)
1520	1524	STRAND		might get lost (downstream of altered splice site)
1525	1527	HELIX		might get lost (downstream of altered splice site)
1530	1530	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
1538	1546	STRAND		might get lost (downstream of altered splice site)
1557	1557	MOD_RES	Phosphothreonine (By similarity).	might get lost (downstream of altered splice site)
1560	1560	CONFLICT	E -> G (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
1566	1570	STRAND		might get lost (downstream of altered splice site)
1573	1580	STRAND		might get lost (downstream of altered splice site)
1586	1590	STRAND		might get lost (downstream of altered splice site)
1593	1596	STRAND		might get lost (downstream of altered splice site)
1602	1602	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1603	1609	STRAND		might get lost (downstream of altered splice site)
1609	1704	REPEAT	Filamin 15.	might get lost (downstream of altered splice site)
1618	1621	STRAND		might get lost (downstream of altered splice site)
1622	1624	HELIX		might get lost (downstream of altered splice site)
1625	1639	STRAND		might get lost (downstream of altered splice site)
1641	1643	STRAND		might get lost (downstream of altered splice site)
1648	1653	STRAND		might get lost (downstream of altered splice site)
1663	1666	STRAND		might get lost (downstream of altered splice site)
1672	1677	STRAND		might get lost (downstream of altered splice site)
1682	1692	STRAND		might get lost (downstream of altered splice site)
1684	1684	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
1699	1705	STRAND		might get lost (downstream of altered splice site)
1705	1728	REGION	Hinge 1 (By similarity).	might get lost (downstream of altered splice site)
1729	1813	REPEAT	Filamin 16.	might get lost (downstream of altered splice site)
1748	1750	STRAND		might get lost (downstream of altered splice site)
1759	1765	STRAND		might get lost (downstream of altered splice site)
1775	1778	STRAND		might get lost (downstream of altered splice site)
1780	1782	STRAND		might get lost (downstream of altered splice site)
1784	1787	STRAND		might get lost (downstream of altered splice site)
1792	1804	STRAND		might get lost (downstream of altered splice site)
1811	1816	STRAND		might get lost (downstream of altered splice site)
1816	1908	REPEAT	Filamin 17.	might get lost (downstream of altered splice site)
1825	1828	STRAND		might get lost (downstream of altered splice site)
1829	1832	HELIX		might get lost (downstream of altered splice site)
1833	1835	STRAND		might get lost (downstream of altered splice site)
1840	1845	STRAND		might get lost (downstream of altered splice site)
1854	1862	STRAND		might get lost (downstream of altered splice site)
1862	2148	REGION	Interaction with the cytoplasmic tail of GP1BA.	might get lost (downstream of altered splice site)
1872	1881	STRAND		might get lost (downstream of altered splice site)
1888	1898	STRAND		might get lost (downstream of altered splice site)
1903	1909	STRAND		might get lost (downstream of altered splice site)
1919	1994	REPEAT	Filamin 18.	might get lost (downstream of altered splice site)
1924	1927	STRAND		might get lost (downstream of altered splice site)
1941	1943	STRAND		might get lost (downstream of altered splice site)
1952	1957	STRAND		might get lost (downstream of altered splice site)
1953	1953	CONFLICT	L -> F (in Ref. 4; AAF97046).	might get lost (downstream of altered splice site)
1958	1960	TURN		might get lost (downstream of altered splice site)
1961	1966	STRAND		might get lost (downstream of altered splice site)
1972	1977	STRAND		might get lost (downstream of altered splice site)
1979	1984	STRAND		might get lost (downstream of altered splice site)
1989	1994	STRAND		might get lost (downstream of altered splice site)
1997	1999	STRAND		might get lost (downstream of altered splice site)
1997	2089	REPEAT	Filamin 19.	might get lost (downstream of altered splice site)
2002	2004	HELIX		might get lost (downstream of altered splice site)
2006	2006	CONFLICT	K -> R (in Ref. 2; AAC33845).	might get lost (downstream of altered splice site)
2006	2010	STRAND		might get lost (downstream of altered splice site)
2011	2013	TURN		might get lost (downstream of altered splice site)
2014	2016	STRAND		might get lost (downstream of altered splice site)
2021	2026	STRAND		might get lost (downstream of altered splice site)
2028	2030	TURN		might get lost (downstream of altered splice site)
2035	2043	STRAND		might get lost (downstream of altered splice site)
2057	2061	STRAND		might get lost (downstream of altered splice site)
2060	2225	REGION	Interaction with FLNA 1.	might get lost (downstream of altered splice site)
2067	2077	STRAND		might get lost (downstream of altered splice site)
2083	2083	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2084	2090	STRAND		might get lost (downstream of altered splice site)
2091	2185	REPEAT	Filamin 20.	might get lost (downstream of altered splice site)
2099	2099	CONFLICT	I -> S (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
2107	2107	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2111	2113	STRAND		might get lost (downstream of altered splice site)
2118	2120	STRAND		might get lost (downstream of altered splice site)
2126	2128	HELIX		might get lost (downstream of altered splice site)
2130	2134	STRAND		might get lost (downstream of altered splice site)
2130	2602	REGION	Interaction with INPPL1.	might get lost (downstream of altered splice site)
2140	2142	STRAND		might get lost (downstream of altered splice site)
2144	2147	STRAND		might get lost (downstream of altered splice site)
2149	2157	STRAND		might get lost (downstream of altered splice site)
2164	2175	STRAND		might get lost (downstream of altered splice site)
2170	2170	CONFLICT	K -> N (in Ref. 4; AAF97046).	might get lost (downstream of altered splice site)
2170	2170	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2180	2185	STRAND		might get lost (downstream of altered splice site)
2188	2280	REPEAT	Filamin 21.	might get lost (downstream of altered splice site)
2193	2195	HELIX		might get lost (downstream of altered splice site)
2201	2203	TURN		might get lost (downstream of altered splice site)
2206	2208	STRAND		might get lost (downstream of altered splice site)
2210	2214	STRAND		might get lost (downstream of altered splice site)
2219	2221	STRAND		might get lost (downstream of altered splice site)
2226	2234	STRAND		might get lost (downstream of altered splice site)
2236	2240	STRAND		might get lost (downstream of altered splice site)
2250	2256	STRAND		might get lost (downstream of altered splice site)
2258	2266	STRAND		might get lost (downstream of altered splice site)
2275	2281	STRAND		might get lost (downstream of altered splice site)
2282	2375	REPEAT	Filamin 22.	might get lost (downstream of altered splice site)
2288	2294	STRAND		might get lost (downstream of altered splice site)
2293	2293	CONFLICT	M -> V (in Ref. 4; AAF97046 and 7; CAE46040).	might get lost (downstream of altered splice site)
2306	2314	STRAND		might get lost (downstream of altered splice site)
2320	2324	STRAND		might get lost (downstream of altered splice site)
2330	2332	STRAND		might get lost (downstream of altered splice site)
2334	2337	STRAND		might get lost (downstream of altered splice site)
2340	2347	STRAND		might get lost (downstream of altered splice site)
2352	2365	STRAND		might get lost (downstream of altered splice site)
2354	2354	CONFLICT	V -> A (in Ref. 11; CAB70818).	might get lost (downstream of altered splice site)
2369	2369	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2370	2375	STRAND		might get lost (downstream of altered splice site)
2379	2471	REPEAT	Filamin 23.	might get lost (downstream of altered splice site)
2384	2386	TURN		might get lost (downstream of altered splice site)
2388	2392	STRAND		might get lost (downstream of altered splice site)
2393	2395	TURN		might get lost (downstream of altered splice site)
2403	2408	STRAND		might get lost (downstream of altered splice site)
2410	2412	TURN		might get lost (downstream of altered splice site)
2417	2425	STRAND		might get lost (downstream of altered splice site)
2430	2433	STRAND		might get lost (downstream of altered splice site)
2435	2442	STRAND		might get lost (downstream of altered splice site)
2448	2459	STRAND		might get lost (downstream of altered splice site)
2466	2473	STRAND		might get lost (downstream of altered splice site)
2468	2468	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ISG15).	might get lost (downstream of altered splice site)
2468	2468	MUTAGEN	K->R: Cytoplasmic localization.	might get lost (downstream of altered splice site)
2472	2506	REGION	Hinge 2 (By similarity).	might get lost (downstream of altered splice site)
2472	2602	REGION	Self-association site, tail (By similarity).	might get lost (downstream of altered splice site)
2478	2478	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2481	2481	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2487	2487	CONFLICT	S -> C (in Ref. 13; AAA35505).	might get lost (downstream of altered splice site)
2502	2502	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
2507	2601	REPEAT	Filamin 24.	might get lost (downstream of altered splice site)
2507	2602	REGION	Interaction with FLNA 2.	might get lost (downstream of altered splice site)
2512	2514	TURN		might get lost (downstream of altered splice site)
2516	2519	STRAND		might get lost (downstream of altered splice site)
2520	2523	HELIX		might get lost (downstream of altered splice site)
2531	2536	STRAND		might get lost (downstream of altered splice site)
2538	2540	TURN		might get lost (downstream of altered splice site)
2545	2547	STRAND		might get lost (downstream of altered splice site)
2557	2565	STRAND		might get lost (downstream of altered splice site)
2568	2574	STRAND		might get lost (downstream of altered splice site)
2571	2571	CONFLICT	V -> A (in Ref. 11; CAB70818).	might get lost (downstream of altered splice site)
2576	2576	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2579	2583	STRAND		might get lost (downstream of altered splice site)
2585	2591	STRAND		might get lost (downstream of altered splice site)
2596	2601	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

7737 / 7737

position (AA) of stopcodon in wt / mu AA sequence

2579 / 2579

position of stopcodon in wt / mu cDNA

7902 / 7902

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

166 / 166

chromosome

strand

last intron/exon boundary

7715

theoretical NMD boundary in CDS

7499

length of CDS

7737

coding sequence (CDS) position

700

cDNA position
(for ins/del: last normal base / first normal base)

865

gDNA position
(for ins/del: last normal base / first normal base)

73290

chromosomal position
(for ins/del: last normal base / first normal base)

58067416

original gDNA sequence snippet

AGCACTCAGTTATGACTTACCTGTCCCAGTTCCCCAAAGCC

altered gDNA sequence snippet

AGCACTCAGTTATGACTTACGTGTCCCAGTTCCCCAAAGCC

original cDNA sequence snippet

AGCACTCAGTTATGACTTACCTGTCCCAGTTCCCCAAAGCC

altered cDNA sequence snippet

AGCACTCAGTTATGACTTACGTGTCCCAGTTCCCCAAAGCC

wildtype AA sequence

MPVTEKDLAE DAPWKKIQQN TFTRWCNEHL KCVNKRIGNL QTDLSDGLRL IALLEVLSQK
RMYRKYHQRP TFRQMQLENV SVALEFLDRE SIKLVSIDSK AIVDGNLKLI LGLVWTLILH
YSISMPVWED EGDDDAKKQT PKQRLLGWIQ NKIPYLPITN FNQNWQDGKA LGALVDSCAP
GLCPDWESWD PQKPVDNARE AMQQADDWLG VPQVITPEEI IHPDVDEHSV MTYLSQFPKA
KLKPGAPLKP KLNPKKARAY GRGIEPTGNM VKQPAKFTVD TISAGQGDVM VFVEDPEGNK
EEAQVTPDSD KNKTYSVEYL PKVTGLHKVT VLFAGQHISK SPFEVSVDKA QGDASKVTAK
GPGLEAVGNI ANKPTYFDIY TAGAGVGDIG VEVEDPQGKN TVELLVEDKG NQVYRCVYKP
MQPGPHVVKI FFAGDTIPKS PFVVQVGEAC NPNACRASGR GLQPKGVRIR ETTDFKVDTK
AAGSGELGVT MKGPKGLEEL VKQKDFLDGV YAFEYYPSTP GRYSIAITWG GHHIPKSPFE
VQVGPEAGMQ KVRAWGPGLH GGIVGRSADF VVESIGSEVG SLGFAIEGPS QAKIEYNDQN
DGSCDVKYWP KEPGEYAVHI MCDDEDIKDS PYMAFIHPAT GGYNPDLVRA YGPGLEKSGC
IVNNLAEFTV DPKDAGKAPL KIFAQDGEGQ RIDIQMKNRM DGTYACSYTP VKAIKHTIAV
VWGGVNIPHS PYRVNIGQGS HPQKVKVFGP GVERSGLKAN EPTHFTVDCT EAGEGDVSVG
IKCDARVLSE DEEDVDFDII HNANDTFTVK YVPPAAGRYT IKVLFASQEI PASPFRVKVD
PSHDASKVKA EGPGLSKAGV ENGKPTHFTV YTKGAGKAPL NVQFNSPLPG DAVKDLDIID
NYDYSHTVKY TPTQQGNMQV LVTYGGDPIP KSPFTVGVAA PLDLSKIKLN GLENRVEVGK
DQEFTVDTRG AGGQGKLDVT ILSPSRKVVP CLVTPVTGRE NSTAKFIPRE EGLYAVDVTY
DGHPVPGSPY TVEASLPPDP SKVKAHGPGL EGGLVGKPAE FTIDTKGAGT GGLGLTVEGP
CEAKIECSDN GDGTCSVSYL PTKPGEYFVN ILFEEVHIPG SPFKADIEMP FDPSKVVASG
PGLEHGKVGE AGLLSVDCSE AGPGALGLEA VSDSGTKAEV SIQNNKDGTY AVTYVPLTAG
MYTLTMKYGG ELVPHFPARV KVEPAVDTSR IKVFGPGIEG KDVFREATTD FTVDSRPLTQ
VGGDHIKAHI ANPSGASTEC FVTDNADGTY QVEYTPFEKG LHVVEVTYDD VPIPNSPFKV
AVTEGCQPSR VQAQGPGLKE AFTNKPNVFT VVTRGAGIGG LGITVEGPSE SKINCRDNKD
GSCSAEYIPF APGDYDVNIT YGGAHIPGSP FRVPVKDVVD PSKVKIAGPG LGSGVRARVL
QSFTVDSSKA GLAPLEVRVL GPRGLVEPVN VVDNGDGTHT VTYTPSQEGP YMVSVKYADE
EIPRSPFKVK VLPTYDASKV TASGPGLSSY GVPASLPVDF AIDARDAGEG LLAVQITDQE
GKPKRAIVHD NKDGTYAVTY IPDKTGRYMI GVTYGGDDIP LSPYRIRATQ TGDASKCLAT
GPGIASTVKT GEEVGFVVDA KTAGKGKVTC TVLTPDGTEA EADVIENEDG TYDIFYTAAK
PGTYVIYVRF GGVDIPNSPF TVMVTEEAYV PVSDMNGLGF KPFDLVIPFA VRKGEITGEV
HMPSGKTATP EIVDNKDGTV TVRYAPTEVG LHEMHIKYMG SHIPESPLQF YVNYPNSGSV
SAYGPGLVYG VANKTATFTI VTEDAGEGGL DLAIEGPSKA EISCIDNKDG TCTVTYLPTL
PGDYSILVKY NDKHIPGSPF TAKITDDSRR CSQVKLGSAA DFLLDISETD LSSLTASIKA
PSGRDEPCLL KRLPNNHIGI SFIPREVGEH LVSIKKNGNH VANSPVSIMV VQSEIGDARR
AKVYGRGLSE GRTFEMSDFI VDTRDAGYGG ISLAVEGPSK VDIQTEDLED GTCKVSYFPT
VPGVYIVSTK FADEHVPGSP FTVKISGEGR VKESITRTSR APSVATVGSI CDLNLKIPEI
NSSDMSAHVT SPSGRVTEAE IVPMGKNSHC VRFVPQEMGV HTVSVKYRGQ HVTGSPFQFT
VGPLGEGGAH KVRAGGPGLE RGEAGVPAEF SIWTREAGAG GLSIAVEGPS KAEITFDDHK
NGSCGVSYIA QEPGNYEVSI KFNDEHIPES PYLVPVIAPS DDARRLTVMS LQESGLKVNQ
PASFAIRLNG AKGKIDAKVH SPSGAVEECH VSELEPDKYA VRFIPHENGV HTIDVKFNGS
HVVGSPFKVR VGEPGQAGNP ALVSAYGTGL EGGTTGIQSE FFINTTRAGP GTLSVTIEGP
SKVKMDCQET PEGYKVMYTP MAPGNYLISV KYGGPNHIVG SPFKAKVTGQ RLVSPGSANE
TSSILVESVT RSSTETCYSA IPKASSDASK VTSKGAGLSK AFVGQKSSFL VDCSKAGSNM
LLIGVHGPTT PCEEVSMKHV GNQQYNVTYV VKERGDYVLA VKWGEEHIPG SPFHVTVP*

mutated AA sequence

MPVTEKDLAE DAPWKKIQQN TFTRWCNEHL KCVNKRIGNL QTDLSDGLRL IALLEVLSQK
RMYRKYHQRP TFRQMQLENV SVALEFLDRE SIKLVSIDSK AIVDGNLKLI LGLVWTLILH
YSISMPVWED EGDDDAKKQT PKQRLLGWIQ NKIPYLPITN FNQNWQDGKA LGALVDSCAP
GLCPDWESWD PQKPVDNARE AMQQADDWLG VPQVITPEEI IHPDVDEHSV MTYVSQFPKA
KLKPGAPLKP KLNPKKARAY GRGIEPTGNM VKQPAKFTVD TISAGQGDVM VFVEDPEGNK
EEAQVTPDSD KNKTYSVEYL PKVTGLHKVT VLFAGQHISK SPFEVSVDKA QGDASKVTAK
GPGLEAVGNI ANKPTYFDIY TAGAGVGDIG VEVEDPQGKN TVELLVEDKG NQVYRCVYKP
MQPGPHVVKI FFAGDTIPKS PFVVQVGEAC NPNACRASGR GLQPKGVRIR ETTDFKVDTK
AAGSGELGVT MKGPKGLEEL VKQKDFLDGV YAFEYYPSTP GRYSIAITWG GHHIPKSPFE
VQVGPEAGMQ KVRAWGPGLH GGIVGRSADF VVESIGSEVG SLGFAIEGPS QAKIEYNDQN
DGSCDVKYWP KEPGEYAVHI MCDDEDIKDS PYMAFIHPAT GGYNPDLVRA YGPGLEKSGC
IVNNLAEFTV DPKDAGKAPL KIFAQDGEGQ RIDIQMKNRM DGTYACSYTP VKAIKHTIAV
VWGGVNIPHS PYRVNIGQGS HPQKVKVFGP GVERSGLKAN EPTHFTVDCT EAGEGDVSVG
IKCDARVLSE DEEDVDFDII HNANDTFTVK YVPPAAGRYT IKVLFASQEI PASPFRVKVD
PSHDASKVKA EGPGLSKAGV ENGKPTHFTV YTKGAGKAPL NVQFNSPLPG DAVKDLDIID
NYDYSHTVKY TPTQQGNMQV LVTYGGDPIP KSPFTVGVAA PLDLSKIKLN GLENRVEVGK
DQEFTVDTRG AGGQGKLDVT ILSPSRKVVP CLVTPVTGRE NSTAKFIPRE EGLYAVDVTY
DGHPVPGSPY TVEASLPPDP SKVKAHGPGL EGGLVGKPAE FTIDTKGAGT GGLGLTVEGP
CEAKIECSDN GDGTCSVSYL PTKPGEYFVN ILFEEVHIPG SPFKADIEMP FDPSKVVASG
PGLEHGKVGE AGLLSVDCSE AGPGALGLEA VSDSGTKAEV SIQNNKDGTY AVTYVPLTAG
MYTLTMKYGG ELVPHFPARV KVEPAVDTSR IKVFGPGIEG KDVFREATTD FTVDSRPLTQ
VGGDHIKAHI ANPSGASTEC FVTDNADGTY QVEYTPFEKG LHVVEVTYDD VPIPNSPFKV
AVTEGCQPSR VQAQGPGLKE AFTNKPNVFT VVTRGAGIGG LGITVEGPSE SKINCRDNKD
GSCSAEYIPF APGDYDVNIT YGGAHIPGSP FRVPVKDVVD PSKVKIAGPG LGSGVRARVL
QSFTVDSSKA GLAPLEVRVL GPRGLVEPVN VVDNGDGTHT VTYTPSQEGP YMVSVKYADE
EIPRSPFKVK VLPTYDASKV TASGPGLSSY GVPASLPVDF AIDARDAGEG LLAVQITDQE
GKPKRAIVHD NKDGTYAVTY IPDKTGRYMI GVTYGGDDIP LSPYRIRATQ TGDASKCLAT
GPGIASTVKT GEEVGFVVDA KTAGKGKVTC TVLTPDGTEA EADVIENEDG TYDIFYTAAK
PGTYVIYVRF GGVDIPNSPF TVMVTEEAYV PVSDMNGLGF KPFDLVIPFA VRKGEITGEV
HMPSGKTATP EIVDNKDGTV TVRYAPTEVG LHEMHIKYMG SHIPESPLQF YVNYPNSGSV
SAYGPGLVYG VANKTATFTI VTEDAGEGGL DLAIEGPSKA EISCIDNKDG TCTVTYLPTL
PGDYSILVKY NDKHIPGSPF TAKITDDSRR CSQVKLGSAA DFLLDISETD LSSLTASIKA
PSGRDEPCLL KRLPNNHIGI SFIPREVGEH LVSIKKNGNH VANSPVSIMV VQSEIGDARR
AKVYGRGLSE GRTFEMSDFI VDTRDAGYGG ISLAVEGPSK VDIQTEDLED GTCKVSYFPT
VPGVYIVSTK FADEHVPGSP FTVKISGEGR VKESITRTSR APSVATVGSI CDLNLKIPEI
NSSDMSAHVT SPSGRVTEAE IVPMGKNSHC VRFVPQEMGV HTVSVKYRGQ HVTGSPFQFT
VGPLGEGGAH KVRAGGPGLE RGEAGVPAEF SIWTREAGAG GLSIAVEGPS KAEITFDDHK
NGSCGVSYIA QEPGNYEVSI KFNDEHIPES PYLVPVIAPS DDARRLTVMS LQESGLKVNQ
PASFAIRLNG AKGKIDAKVH SPSGAVEECH VSELEPDKYA VRFIPHENGV HTIDVKFNGS
HVVGSPFKVR VGEPGQAGNP ALVSAYGTGL EGGTTGIQSE FFINTTRAGP GTLSVTIEGP
SKVKMDCQET PEGYKVMYTP MAPGNYLISV KYGGPNHIVG SPFKAKVTGQ RLVSPGSANE
TSSILVESVT RSSTETCYSA IPKASSDASK VTSKGAGLSK AFVGQKSSFL VDCSKAGSNM
LLIGVHGPTT PCEEVSMKHV GNQQYNVTYV VKERGDYVLA VKWGEEHIPG SPFHVTVP*

speed

0.64 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999433844178 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM070930)
known disease mutation: rs21296 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:58067416C>GN/A show variant in all transcripts IGV

HGNC symbol

FLNB

Ensembl transcript ID

ENST00000429972

Genbank transcript ID

NM_001164318

UniProt peptide

O75369

alteration type

single base exchange

alteration region

CDS

DNA changes

c.700C>G
cDNA.865C>G
g.73290C>G

AA changes

L234V Score: 32 explain score(s)

position(s) of altered AA
if AA alteration in CDS

234

frameshift

known variant

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.571	1
	3.554	1
(flanking)	5.193	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor increased	73284	wt: 0.30 / mu: 0.98	wt: TTATGACTTACCTGT mu: TTATGACTTACGTGT	ATGA\|ctta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

234

mutated

all conserved

234

Ptroglodytes

all identical

ENSPTRG00000015054

234

Mmulatta

all identical

ENSMMUG00000000706

234

Fcatus

no alignment

ENSFCAG00000006518

n/a

Mmusculus

all identical

ENSMUSG00000025278

234

Ggallus

all identical

ENSGALG00000005678

137

Trubripes

all identical

ENSTRUG00000005042

235

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000008663

234

protein features

start (aa)	end (aa)	feature	details
1	239	DOMAIN	Actin-binding.	lost
139	239	DOMAIN	CH 2.	lost
227	234	HELIX		lost
236	239	HELIX		might get lost (downstream of altered splice site)
249	347	REPEAT	Filamin 1.	might get lost (downstream of altered splice site)
349	446	REPEAT	Filamin 2.	might get lost (downstream of altered splice site)
447	543	REPEAT	Filamin 3.	might get lost (downstream of altered splice site)
519	519	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
544	636	REPEAT	Filamin 4.	might get lost (downstream of altered splice site)
640	736	REPEAT	Filamin 5.	might get lost (downstream of altered splice site)
658	658	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
681	681	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
737	839	REPEAT	Filamin 6.	might get lost (downstream of altered splice site)
816	816	CONFLICT	A -> T (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
840	938	REPEAT	Filamin 7.	might get lost (downstream of altered splice site)
886	886	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
924	924	CONFLICT	Y -> H (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
939	1034	REPEAT	Filamin 8.	might get lost (downstream of altered splice site)
983	983	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1028	1028	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1035	1127	REPEAT	Filamin 9.	might get lost (downstream of altered splice site)
1040	1042	HELIX		might get lost (downstream of altered splice site)
1044	1047	STRAND		might get lost (downstream of altered splice site)
1048	1051	HELIX		might get lost (downstream of altered splice site)
1052	1054	STRAND		might get lost (downstream of altered splice site)
1059	1064	STRAND		might get lost (downstream of altered splice site)
1066	1068	TURN		might get lost (downstream of altered splice site)
1073	1077	STRAND		might get lost (downstream of altered splice site)
1079	1081	STRAND		might get lost (downstream of altered splice site)
1084	1089	STRAND		might get lost (downstream of altered splice site)
1091	1100	STRAND		might get lost (downstream of altered splice site)
1102	1115	STRAND		might get lost (downstream of altered splice site)
1122	1128	STRAND		might get lost (downstream of altered splice site)
1128	1222	REPEAT	Filamin 10.	might get lost (downstream of altered splice site)
1128	1511	REGION	Interaction with FBLP1.	might get lost (downstream of altered splice site)
1133	1135	HELIX		might get lost (downstream of altered splice site)
1136	1140	STRAND		might get lost (downstream of altered splice site)
1141	1143	HELIX		might get lost (downstream of altered splice site)
1154	1160	STRAND		might get lost (downstream of altered splice site)
1166	1172	STRAND		might get lost (downstream of altered splice site)
1173	1175	TURN		might get lost (downstream of altered splice site)
1179	1184	STRAND		might get lost (downstream of altered splice site)
1188	1195	STRAND		might get lost (downstream of altered splice site)
1200	1208	STRAND		might get lost (downstream of altered splice site)
1217	1223	STRAND		might get lost (downstream of altered splice site)
1223	1322	REPEAT	Filamin 11.	might get lost (downstream of altered splice site)
1232	1235	STRAND		might get lost (downstream of altered splice site)
1236	1239	HELIX		might get lost (downstream of altered splice site)
1249	1254	STRAND		might get lost (downstream of altered splice site)
1256	1258	STRAND		might get lost (downstream of altered splice site)
1273	1275	STRAND		might get lost (downstream of altered splice site)
1281	1284	STRAND		might get lost (downstream of altered splice site)
1286	1294	STRAND		might get lost (downstream of altered splice site)
1300	1310	STRAND		might get lost (downstream of altered splice site)
1316	1316	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1317	1321	STRAND		might get lost (downstream of altered splice site)
1323	1415	REPEAT	Filamin 12.	might get lost (downstream of altered splice site)
1332	1335	STRAND		might get lost (downstream of altered splice site)
1336	1339	HELIX		might get lost (downstream of altered splice site)
1347	1352	STRAND		might get lost (downstream of altered splice site)
1354	1356	TURN		might get lost (downstream of altered splice site)
1361	1369	STRAND		might get lost (downstream of altered splice site)
1374	1377	STRAND		might get lost (downstream of altered splice site)
1379	1381	STRAND		might get lost (downstream of altered splice site)
1383	1387	STRAND		might get lost (downstream of altered splice site)
1393	1401	STRAND		might get lost (downstream of altered splice site)
1410	1416	STRAND		might get lost (downstream of altered splice site)
1411	1411	CONFLICT	F -> L (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
1416	1511	REPEAT	Filamin 13.	might get lost (downstream of altered splice site)
1425	1428	STRAND		might get lost (downstream of altered splice site)
1429	1431	TURN		might get lost (downstream of altered splice site)
1433	1433	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1441	1446	STRAND		might get lost (downstream of altered splice site)
1448	1450	TURN		might get lost (downstream of altered splice site)
1455	1460	STRAND		might get lost (downstream of altered splice site)
1462	1464	STRAND		might get lost (downstream of altered splice site)
1475	1483	STRAND		might get lost (downstream of altered splice site)
1489	1501	STRAND		might get lost (downstream of altered splice site)
1505	1505	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1506	1512	STRAND		might get lost (downstream of altered splice site)
1512	1608	REPEAT	Filamin 14.	might get lost (downstream of altered splice site)
1517	1519	HELIX		might get lost (downstream of altered splice site)
1520	1524	STRAND		might get lost (downstream of altered splice site)
1525	1527	HELIX		might get lost (downstream of altered splice site)
1530	1530	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
1538	1546	STRAND		might get lost (downstream of altered splice site)
1557	1557	MOD_RES	Phosphothreonine (By similarity).	might get lost (downstream of altered splice site)
1560	1560	CONFLICT	E -> G (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
1566	1570	STRAND		might get lost (downstream of altered splice site)
1573	1580	STRAND		might get lost (downstream of altered splice site)
1586	1590	STRAND		might get lost (downstream of altered splice site)
1593	1596	STRAND		might get lost (downstream of altered splice site)
1602	1602	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1603	1609	STRAND		might get lost (downstream of altered splice site)
1609	1704	REPEAT	Filamin 15.	might get lost (downstream of altered splice site)
1618	1621	STRAND		might get lost (downstream of altered splice site)
1622	1624	HELIX		might get lost (downstream of altered splice site)
1625	1639	STRAND		might get lost (downstream of altered splice site)
1641	1643	STRAND		might get lost (downstream of altered splice site)
1648	1653	STRAND		might get lost (downstream of altered splice site)
1663	1666	STRAND		might get lost (downstream of altered splice site)
1672	1677	STRAND		might get lost (downstream of altered splice site)
1682	1692	STRAND		might get lost (downstream of altered splice site)
1684	1684	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
1699	1705	STRAND		might get lost (downstream of altered splice site)
1705	1728	REGION	Hinge 1 (By similarity).	might get lost (downstream of altered splice site)
1729	1813	REPEAT	Filamin 16.	might get lost (downstream of altered splice site)
1748	1750	STRAND		might get lost (downstream of altered splice site)
1759	1765	STRAND		might get lost (downstream of altered splice site)
1775	1778	STRAND		might get lost (downstream of altered splice site)
1780	1782	STRAND		might get lost (downstream of altered splice site)
1784	1787	STRAND		might get lost (downstream of altered splice site)
1792	1804	STRAND		might get lost (downstream of altered splice site)
1811	1816	STRAND		might get lost (downstream of altered splice site)
1816	1908	REPEAT	Filamin 17.	might get lost (downstream of altered splice site)
1825	1828	STRAND		might get lost (downstream of altered splice site)
1829	1832	HELIX		might get lost (downstream of altered splice site)
1833	1835	STRAND		might get lost (downstream of altered splice site)
1840	1845	STRAND		might get lost (downstream of altered splice site)
1854	1862	STRAND		might get lost (downstream of altered splice site)
1862	2148	REGION	Interaction with the cytoplasmic tail of GP1BA.	might get lost (downstream of altered splice site)
1872	1881	STRAND		might get lost (downstream of altered splice site)
1888	1898	STRAND		might get lost (downstream of altered splice site)
1903	1909	STRAND		might get lost (downstream of altered splice site)
1919	1994	REPEAT	Filamin 18.	might get lost (downstream of altered splice site)
1924	1927	STRAND		might get lost (downstream of altered splice site)
1941	1943	STRAND		might get lost (downstream of altered splice site)
1952	1957	STRAND		might get lost (downstream of altered splice site)
1953	1953	CONFLICT	L -> F (in Ref. 4; AAF97046).	might get lost (downstream of altered splice site)
1958	1960	TURN		might get lost (downstream of altered splice site)
1961	1966	STRAND		might get lost (downstream of altered splice site)
1972	1977	STRAND		might get lost (downstream of altered splice site)
1979	1984	STRAND		might get lost (downstream of altered splice site)
1989	1994	STRAND		might get lost (downstream of altered splice site)
1997	1999	STRAND		might get lost (downstream of altered splice site)
1997	2089	REPEAT	Filamin 19.	might get lost (downstream of altered splice site)
2002	2004	HELIX		might get lost (downstream of altered splice site)
2006	2006	CONFLICT	K -> R (in Ref. 2; AAC33845).	might get lost (downstream of altered splice site)
2006	2010	STRAND		might get lost (downstream of altered splice site)
2011	2013	TURN		might get lost (downstream of altered splice site)
2014	2016	STRAND		might get lost (downstream of altered splice site)
2021	2026	STRAND		might get lost (downstream of altered splice site)
2028	2030	TURN		might get lost (downstream of altered splice site)
2035	2043	STRAND		might get lost (downstream of altered splice site)
2057	2061	STRAND		might get lost (downstream of altered splice site)
2060	2225	REGION	Interaction with FLNA 1.	might get lost (downstream of altered splice site)
2067	2077	STRAND		might get lost (downstream of altered splice site)
2083	2083	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2084	2090	STRAND		might get lost (downstream of altered splice site)
2091	2185	REPEAT	Filamin 20.	might get lost (downstream of altered splice site)
2099	2099	CONFLICT	I -> S (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
2107	2107	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2111	2113	STRAND		might get lost (downstream of altered splice site)
2118	2120	STRAND		might get lost (downstream of altered splice site)
2126	2128	HELIX		might get lost (downstream of altered splice site)
2130	2134	STRAND		might get lost (downstream of altered splice site)
2130	2602	REGION	Interaction with INPPL1.	might get lost (downstream of altered splice site)
2140	2142	STRAND		might get lost (downstream of altered splice site)
2144	2147	STRAND		might get lost (downstream of altered splice site)
2149	2157	STRAND		might get lost (downstream of altered splice site)
2164	2175	STRAND		might get lost (downstream of altered splice site)
2170	2170	CONFLICT	K -> N (in Ref. 4; AAF97046).	might get lost (downstream of altered splice site)
2170	2170	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2180	2185	STRAND		might get lost (downstream of altered splice site)
2188	2280	REPEAT	Filamin 21.	might get lost (downstream of altered splice site)
2193	2195	HELIX		might get lost (downstream of altered splice site)
2201	2203	TURN		might get lost (downstream of altered splice site)
2206	2208	STRAND		might get lost (downstream of altered splice site)
2210	2214	STRAND		might get lost (downstream of altered splice site)
2219	2221	STRAND		might get lost (downstream of altered splice site)
2226	2234	STRAND		might get lost (downstream of altered splice site)
2236	2240	STRAND		might get lost (downstream of altered splice site)
2250	2256	STRAND		might get lost (downstream of altered splice site)
2258	2266	STRAND		might get lost (downstream of altered splice site)
2275	2281	STRAND		might get lost (downstream of altered splice site)
2282	2375	REPEAT	Filamin 22.	might get lost (downstream of altered splice site)
2288	2294	STRAND		might get lost (downstream of altered splice site)
2293	2293	CONFLICT	M -> V (in Ref. 4; AAF97046 and 7; CAE46040).	might get lost (downstream of altered splice site)
2306	2314	STRAND		might get lost (downstream of altered splice site)
2320	2324	STRAND		might get lost (downstream of altered splice site)
2330	2332	STRAND		might get lost (downstream of altered splice site)
2334	2337	STRAND		might get lost (downstream of altered splice site)
2340	2347	STRAND		might get lost (downstream of altered splice site)
2352	2365	STRAND		might get lost (downstream of altered splice site)
2354	2354	CONFLICT	V -> A (in Ref. 11; CAB70818).	might get lost (downstream of altered splice site)
2369	2369	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2370	2375	STRAND		might get lost (downstream of altered splice site)
2379	2471	REPEAT	Filamin 23.	might get lost (downstream of altered splice site)
2384	2386	TURN		might get lost (downstream of altered splice site)
2388	2392	STRAND		might get lost (downstream of altered splice site)
2393	2395	TURN		might get lost (downstream of altered splice site)
2403	2408	STRAND		might get lost (downstream of altered splice site)
2410	2412	TURN		might get lost (downstream of altered splice site)
2417	2425	STRAND		might get lost (downstream of altered splice site)
2430	2433	STRAND		might get lost (downstream of altered splice site)
2435	2442	STRAND		might get lost (downstream of altered splice site)
2448	2459	STRAND		might get lost (downstream of altered splice site)
2466	2473	STRAND		might get lost (downstream of altered splice site)
2468	2468	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ISG15).	might get lost (downstream of altered splice site)
2468	2468	MUTAGEN	K->R: Cytoplasmic localization.	might get lost (downstream of altered splice site)
2472	2506	REGION	Hinge 2 (By similarity).	might get lost (downstream of altered splice site)
2472	2602	REGION	Self-association site, tail (By similarity).	might get lost (downstream of altered splice site)
2478	2478	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2481	2481	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2487	2487	CONFLICT	S -> C (in Ref. 13; AAA35505).	might get lost (downstream of altered splice site)
2502	2502	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
2507	2601	REPEAT	Filamin 24.	might get lost (downstream of altered splice site)
2507	2602	REGION	Interaction with FLNA 2.	might get lost (downstream of altered splice site)
2512	2514	TURN		might get lost (downstream of altered splice site)
2516	2519	STRAND		might get lost (downstream of altered splice site)
2520	2523	HELIX		might get lost (downstream of altered splice site)
2531	2536	STRAND		might get lost (downstream of altered splice site)
2538	2540	TURN		might get lost (downstream of altered splice site)
2545	2547	STRAND		might get lost (downstream of altered splice site)
2557	2565	STRAND		might get lost (downstream of altered splice site)
2568	2574	STRAND		might get lost (downstream of altered splice site)
2571	2571	CONFLICT	V -> A (in Ref. 11; CAB70818).	might get lost (downstream of altered splice site)
2576	2576	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2579	2583	STRAND		might get lost (downstream of altered splice site)
2585	2591	STRAND		might get lost (downstream of altered splice site)
2596	2601	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

7776 / 7776

position (AA) of stopcodon in wt / mu AA sequence

2592 / 2592

position of stopcodon in wt / mu cDNA

7941 / 7941

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

166 / 166

chromosome

strand

last intron/exon boundary

7754

theoretical NMD boundary in CDS

7538

length of CDS

7776

coding sequence (CDS) position

700

cDNA position
(for ins/del: last normal base / first normal base)

865

gDNA position
(for ins/del: last normal base / first normal base)

73290

chromosomal position
(for ins/del: last normal base / first normal base)

58067416

original gDNA sequence snippet

AGCACTCAGTTATGACTTACCTGTCCCAGTTCCCCAAAGCC

altered gDNA sequence snippet

AGCACTCAGTTATGACTTACGTGTCCCAGTTCCCCAAAGCC

original cDNA sequence snippet

AGCACTCAGTTATGACTTACCTGTCCCAGTTCCCCAAAGCC

altered cDNA sequence snippet

AGCACTCAGTTATGACTTACGTGTCCCAGTTCCCCAAAGCC

wildtype AA sequence

MPVTEKDLAE DAPWKKIQQN TFTRWCNEHL KCVNKRIGNL QTDLSDGLRL IALLEVLSQK
RMYRKYHQRP TFRQMQLENV SVALEFLDRE SIKLVSIDSK AIVDGNLKLI LGLVWTLILH
YSISMPVWED EGDDDAKKQT PKQRLLGWIQ NKIPYLPITN FNQNWQDGKA LGALVDSCAP
GLCPDWESWD PQKPVDNARE AMQQADDWLG VPQVITPEEI IHPDVDEHSV MTYLSQFPKA
KLKPGAPLKP KLNPKKARAY GRGIEPTGNM VKQPAKFTVD TISAGQGDVM VFVEDPEGNK
EEAQVTPDSD KNKTYSVEYL PKVTGLHKVT VLFAGQHISK SPFEVSVDKA QGDASKVTAK
GPGLEAVGNI ANKPTYFDIY TAGAGVGDIG VEVEDPQGKN TVELLVEDKG NQVYRCVYKP
MQPGPHVVKI FFAGDTIPKS PFVVQVGEAC NPNACRASGR GLQPKGVRIR ETTDFKVDTK
AAGSGELGVT MKGPKGLEEL VKQKDFLDGV YAFEYYPSTP GRYSIAITWG GHHIPKSPFE
VQVGPEAGMQ KVRAWGPGLH GGIVGRSADF VVESIGSEVG SLGFAIEGPS QAKIEYNDQN
DGSCDVKYWP KEPGEYAVHI MCDDEDIKDS PYMAFIHPAT GGYNPDLVRA YGPGLEKSGC
IVNNLAEFTV DPKDAGKAPL KIFAQDGEGQ RIDIQMKNRM DGTYACSYTP VKAIKHTIAV
VWGGVNIPHS PYRVNIGQGS HPQKVKVFGP GVERSGLKAN EPTHFTVDCT EAGEGDVSVG
IKCDARVLSE DEEDVDFDII HNANDTFTVK YVPPAAGRYT IKVLFASQEI PASPFRVKVD
PSHDASKVKA EGPGLSKAGV ENGKPTHFTV YTKGAGKAPL NVQFNSPLPG DAVKDLDIID
NYDYSHTVKY TPTQQGNMQV LVTYGGDPIP KSPFTVGVAA PLDLSKIKLN GLENRVEVGK
DQEFTVDTRG AGGQGKLDVT ILSPSRKVVP CLVTPVTGRE NSTAKFIPRE EGLYAVDVTY
DGHPVPGSPY TVEASLPPDP SKVKAHGPGL EGGLVGKPAE FTIDTKGAGT GGLGLTVEGP
CEAKIECSDN GDGTCSVSYL PTKPGEYFVN ILFEEVHIPG SPFKADIEMP FDPSKVVASG
PGLEHGKVGE AGLLSVDCSE AGPGALGLEA VSDSGTKAEV SIQNNKDGTY AVTYVPLTAG
MYTLTMKYGG ELVPHFPARV KVEPAVDTSR IKVFGPGIEG KDVFREATTD FTVDSRPLTQ
VGGDHIKAHI ANPSGASTEC FVTDNADGTY QVEYTPFEKG LHVVEVTYDD VPIPNSPFKV
AVTEGCQPSR VQAQGPGLKE AFTNKPNVFT VVTRGAGIGG LGITVEGPSE SKINCRDNKD
GSCSAEYIPF APGDYDVNIT YGGAHIPGSP FRVPVKDVVD PSKVKIAGPG LGSGVRARVL
QSFTVDSSKA GLAPLEVRVL GPRGLVEPVN VVDNGDGTHT VTYTPSQEGP YMVSVKYADE
EIPRSPFKVK VLPTYDASKV TASGPGLSSY GVPASLPVDF AIDARDAGEG LLAVQITDQE
GKPKRAIVHD NKDGTYAVTY IPDKTGRYMI GVTYGGDDIP LSPYRIRATQ TGDASKCLAT
GPGIASTVKT GEEVGFVVDA KTAGKGKVTC TVLTPDGTEA EADVIENEDG TYDIFYTAAK
PGTYVIYVRF GGVDIPNSPF TVMATDGEVT AVEEAPVTEE AYVPVSDMNG LGFKPFDLVI
PFAVRKGEIT GEVHMPSGKT ATPEIVDNKD GTVTVRYAPT EVGLHEMHIK YMGSHIPESP
LQFYVNYPNS GSVSAYGPGL VYGVANKTAT FTIVTEDAGE GGLDLAIEGP SKAEISCIDN
KDGTCTVTYL PTLPGDYSIL VKYNDKHIPG SPFTAKITDD SRRCSQVKLG SAADFLLDIS
ETDLSSLTAS IKAPSGRDEP CLLKRLPNNH IGISFIPREV GEHLVSIKKN GNHVANSPVS
IMVVQSEIGD ARRAKVYGRG LSEGRTFEMS DFIVDTRDAG YGGISLAVEG PSKVDIQTED
LEDGTCKVSY FPTVPGVYIV STKFADEHVP GSPFTVKISG EGRVKESITR TSRAPSVATV
GSICDLNLKI PEINSSDMSA HVTSPSGRVT EAEIVPMGKN SHCVRFVPQE MGVHTVSVKY
RGQHVTGSPF QFTVGPLGEG GAHKVRAGGP GLERGEAGVP AEFSIWTREA GAGGLSIAVE
GPSKAEITFD DHKNGSCGVS YIAQEPGNYE VSIKFNDEHI PESPYLVPVI APSDDARRLT
VMSLQESGLK VNQPASFAIR LNGAKGKIDA KVHSPSGAVE ECHVSELEPD KYAVRFIPHE
NGVHTIDVKF NGSHVVGSPF KVRVGEPGQA GNPALVSAYG TGLEGGTTGI QSEFFINTTR
AGPGTLSVTI EGPSKVKMDC QETPEGYKVM YTPMAPGNYL ISVKYGGPNH IVGSPFKAKV
TGQRLVSPGS ANETSSILVE SVTRSSTETC YSAIPKASSD ASKVTSKGAG LSKAFVGQKS
SFLVDCSKAG SNMLLIGVHG PTTPCEEVSM KHVGNQQYNV TYVVKERGDY VLAVKWGEEH
IPGSPFHVTV P*

mutated AA sequence

MPVTEKDLAE DAPWKKIQQN TFTRWCNEHL KCVNKRIGNL QTDLSDGLRL IALLEVLSQK
RMYRKYHQRP TFRQMQLENV SVALEFLDRE SIKLVSIDSK AIVDGNLKLI LGLVWTLILH
YSISMPVWED EGDDDAKKQT PKQRLLGWIQ NKIPYLPITN FNQNWQDGKA LGALVDSCAP
GLCPDWESWD PQKPVDNARE AMQQADDWLG VPQVITPEEI IHPDVDEHSV MTYVSQFPKA
KLKPGAPLKP KLNPKKARAY GRGIEPTGNM VKQPAKFTVD TISAGQGDVM VFVEDPEGNK
EEAQVTPDSD KNKTYSVEYL PKVTGLHKVT VLFAGQHISK SPFEVSVDKA QGDASKVTAK
GPGLEAVGNI ANKPTYFDIY TAGAGVGDIG VEVEDPQGKN TVELLVEDKG NQVYRCVYKP
MQPGPHVVKI FFAGDTIPKS PFVVQVGEAC NPNACRASGR GLQPKGVRIR ETTDFKVDTK
AAGSGELGVT MKGPKGLEEL VKQKDFLDGV YAFEYYPSTP GRYSIAITWG GHHIPKSPFE
VQVGPEAGMQ KVRAWGPGLH GGIVGRSADF VVESIGSEVG SLGFAIEGPS QAKIEYNDQN
DGSCDVKYWP KEPGEYAVHI MCDDEDIKDS PYMAFIHPAT GGYNPDLVRA YGPGLEKSGC
IVNNLAEFTV DPKDAGKAPL KIFAQDGEGQ RIDIQMKNRM DGTYACSYTP VKAIKHTIAV
VWGGVNIPHS PYRVNIGQGS HPQKVKVFGP GVERSGLKAN EPTHFTVDCT EAGEGDVSVG
IKCDARVLSE DEEDVDFDII HNANDTFTVK YVPPAAGRYT IKVLFASQEI PASPFRVKVD
PSHDASKVKA EGPGLSKAGV ENGKPTHFTV YTKGAGKAPL NVQFNSPLPG DAVKDLDIID
NYDYSHTVKY TPTQQGNMQV LVTYGGDPIP KSPFTVGVAA PLDLSKIKLN GLENRVEVGK
DQEFTVDTRG AGGQGKLDVT ILSPSRKVVP CLVTPVTGRE NSTAKFIPRE EGLYAVDVTY
DGHPVPGSPY TVEASLPPDP SKVKAHGPGL EGGLVGKPAE FTIDTKGAGT GGLGLTVEGP
CEAKIECSDN GDGTCSVSYL PTKPGEYFVN ILFEEVHIPG SPFKADIEMP FDPSKVVASG
PGLEHGKVGE AGLLSVDCSE AGPGALGLEA VSDSGTKAEV SIQNNKDGTY AVTYVPLTAG
MYTLTMKYGG ELVPHFPARV KVEPAVDTSR IKVFGPGIEG KDVFREATTD FTVDSRPLTQ
VGGDHIKAHI ANPSGASTEC FVTDNADGTY QVEYTPFEKG LHVVEVTYDD VPIPNSPFKV
AVTEGCQPSR VQAQGPGLKE AFTNKPNVFT VVTRGAGIGG LGITVEGPSE SKINCRDNKD
GSCSAEYIPF APGDYDVNIT YGGAHIPGSP FRVPVKDVVD PSKVKIAGPG LGSGVRARVL
QSFTVDSSKA GLAPLEVRVL GPRGLVEPVN VVDNGDGTHT VTYTPSQEGP YMVSVKYADE
EIPRSPFKVK VLPTYDASKV TASGPGLSSY GVPASLPVDF AIDARDAGEG LLAVQITDQE
GKPKRAIVHD NKDGTYAVTY IPDKTGRYMI GVTYGGDDIP LSPYRIRATQ TGDASKCLAT
GPGIASTVKT GEEVGFVVDA KTAGKGKVTC TVLTPDGTEA EADVIENEDG TYDIFYTAAK
PGTYVIYVRF GGVDIPNSPF TVMATDGEVT AVEEAPVTEE AYVPVSDMNG LGFKPFDLVI
PFAVRKGEIT GEVHMPSGKT ATPEIVDNKD GTVTVRYAPT EVGLHEMHIK YMGSHIPESP
LQFYVNYPNS GSVSAYGPGL VYGVANKTAT FTIVTEDAGE GGLDLAIEGP SKAEISCIDN
KDGTCTVTYL PTLPGDYSIL VKYNDKHIPG SPFTAKITDD SRRCSQVKLG SAADFLLDIS
ETDLSSLTAS IKAPSGRDEP CLLKRLPNNH IGISFIPREV GEHLVSIKKN GNHVANSPVS
IMVVQSEIGD ARRAKVYGRG LSEGRTFEMS DFIVDTRDAG YGGISLAVEG PSKVDIQTED
LEDGTCKVSY FPTVPGVYIV STKFADEHVP GSPFTVKISG EGRVKESITR TSRAPSVATV
GSICDLNLKI PEINSSDMSA HVTSPSGRVT EAEIVPMGKN SHCVRFVPQE MGVHTVSVKY
RGQHVTGSPF QFTVGPLGEG GAHKVRAGGP GLERGEAGVP AEFSIWTREA GAGGLSIAVE
GPSKAEITFD DHKNGSCGVS YIAQEPGNYE VSIKFNDEHI PESPYLVPVI APSDDARRLT
VMSLQESGLK VNQPASFAIR LNGAKGKIDA KVHSPSGAVE ECHVSELEPD KYAVRFIPHE
NGVHTIDVKF NGSHVVGSPF KVRVGEPGQA GNPALVSAYG TGLEGGTTGI QSEFFINTTR
AGPGTLSVTI EGPSKVKMDC QETPEGYKVM YTPMAPGNYL ISVKYGGPNH IVGSPFKAKV
TGQRLVSPGS ANETSSILVE SVTRSSTETC YSAIPKASSD ASKVTSKGAG LSKAFVGQKS
SFLVDCSKAG SNMLLIGVHG PTTPCEEVSM KHVGNQQYNV TYVVKERGDY VLAVKWGEEH
IPGSPFHVTV P*

speed

0.64 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999433844178 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM070930)
known disease mutation: rs21296 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:58067416C>GN/A show variant in all transcripts IGV

HGNC symbol

FLNB

Ensembl transcript ID

ENST00000357272

Genbank transcript ID

N/A

UniProt peptide

O75369

alteration type

single base exchange

alteration region

CDS

DNA changes

c.700C>G
cDNA.865C>G
g.73290C>G

AA changes

L234V Score: 32 explain score(s)

position(s) of altered AA
if AA alteration in CDS

234

frameshift

known variant

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.571	1
	3.554	1
(flanking)	5.193	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor increased	73284	wt: 0.30 / mu: 0.98	wt: TTATGACTTACCTGT mu: TTATGACTTACGTGT	ATGA\|ctta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

234

mutated

all conserved

234

Ptroglodytes

all identical

ENSPTRG00000015054

234

Mmulatta

all identical

ENSMMUG00000000706

234

Fcatus

no alignment

ENSFCAG00000006518

n/a

Mmusculus

all identical

ENSMUSG00000025278

234

Ggallus

all identical

ENSGALG00000005678

137

Trubripes

all identical

ENSTRUG00000005042

235

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000008663

234

protein features

start (aa)	end (aa)	feature	details
1	239	DOMAIN	Actin-binding.	lost
139	239	DOMAIN	CH 2.	lost
227	234	HELIX		lost
236	239	HELIX		might get lost (downstream of altered splice site)
249	347	REPEAT	Filamin 1.	might get lost (downstream of altered splice site)
349	446	REPEAT	Filamin 2.	might get lost (downstream of altered splice site)
447	543	REPEAT	Filamin 3.	might get lost (downstream of altered splice site)
519	519	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
544	636	REPEAT	Filamin 4.	might get lost (downstream of altered splice site)
640	736	REPEAT	Filamin 5.	might get lost (downstream of altered splice site)
658	658	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
681	681	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
737	839	REPEAT	Filamin 6.	might get lost (downstream of altered splice site)
816	816	CONFLICT	A -> T (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
840	938	REPEAT	Filamin 7.	might get lost (downstream of altered splice site)
886	886	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
924	924	CONFLICT	Y -> H (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
939	1034	REPEAT	Filamin 8.	might get lost (downstream of altered splice site)
983	983	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1028	1028	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1035	1127	REPEAT	Filamin 9.	might get lost (downstream of altered splice site)
1040	1042	HELIX		might get lost (downstream of altered splice site)
1044	1047	STRAND		might get lost (downstream of altered splice site)
1048	1051	HELIX		might get lost (downstream of altered splice site)
1052	1054	STRAND		might get lost (downstream of altered splice site)
1059	1064	STRAND		might get lost (downstream of altered splice site)
1066	1068	TURN		might get lost (downstream of altered splice site)
1073	1077	STRAND		might get lost (downstream of altered splice site)
1079	1081	STRAND		might get lost (downstream of altered splice site)
1084	1089	STRAND		might get lost (downstream of altered splice site)
1091	1100	STRAND		might get lost (downstream of altered splice site)
1102	1115	STRAND		might get lost (downstream of altered splice site)
1122	1128	STRAND		might get lost (downstream of altered splice site)
1128	1222	REPEAT	Filamin 10.	might get lost (downstream of altered splice site)
1128	1511	REGION	Interaction with FBLP1.	might get lost (downstream of altered splice site)
1133	1135	HELIX		might get lost (downstream of altered splice site)
1136	1140	STRAND		might get lost (downstream of altered splice site)
1141	1143	HELIX		might get lost (downstream of altered splice site)
1154	1160	STRAND		might get lost (downstream of altered splice site)
1166	1172	STRAND		might get lost (downstream of altered splice site)
1173	1175	TURN		might get lost (downstream of altered splice site)
1179	1184	STRAND		might get lost (downstream of altered splice site)
1188	1195	STRAND		might get lost (downstream of altered splice site)
1200	1208	STRAND		might get lost (downstream of altered splice site)
1217	1223	STRAND		might get lost (downstream of altered splice site)
1223	1322	REPEAT	Filamin 11.	might get lost (downstream of altered splice site)
1232	1235	STRAND		might get lost (downstream of altered splice site)
1236	1239	HELIX		might get lost (downstream of altered splice site)
1249	1254	STRAND		might get lost (downstream of altered splice site)
1256	1258	STRAND		might get lost (downstream of altered splice site)
1273	1275	STRAND		might get lost (downstream of altered splice site)
1281	1284	STRAND		might get lost (downstream of altered splice site)
1286	1294	STRAND		might get lost (downstream of altered splice site)
1300	1310	STRAND		might get lost (downstream of altered splice site)
1316	1316	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1317	1321	STRAND		might get lost (downstream of altered splice site)
1323	1415	REPEAT	Filamin 12.	might get lost (downstream of altered splice site)
1332	1335	STRAND		might get lost (downstream of altered splice site)
1336	1339	HELIX		might get lost (downstream of altered splice site)
1347	1352	STRAND		might get lost (downstream of altered splice site)
1354	1356	TURN		might get lost (downstream of altered splice site)
1361	1369	STRAND		might get lost (downstream of altered splice site)
1374	1377	STRAND		might get lost (downstream of altered splice site)
1379	1381	STRAND		might get lost (downstream of altered splice site)
1383	1387	STRAND		might get lost (downstream of altered splice site)
1393	1401	STRAND		might get lost (downstream of altered splice site)
1410	1416	STRAND		might get lost (downstream of altered splice site)
1411	1411	CONFLICT	F -> L (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
1416	1511	REPEAT	Filamin 13.	might get lost (downstream of altered splice site)
1425	1428	STRAND		might get lost (downstream of altered splice site)
1429	1431	TURN		might get lost (downstream of altered splice site)
1433	1433	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1441	1446	STRAND		might get lost (downstream of altered splice site)
1448	1450	TURN		might get lost (downstream of altered splice site)
1455	1460	STRAND		might get lost (downstream of altered splice site)
1462	1464	STRAND		might get lost (downstream of altered splice site)
1475	1483	STRAND		might get lost (downstream of altered splice site)
1489	1501	STRAND		might get lost (downstream of altered splice site)
1505	1505	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1506	1512	STRAND		might get lost (downstream of altered splice site)
1512	1608	REPEAT	Filamin 14.	might get lost (downstream of altered splice site)
1517	1519	HELIX		might get lost (downstream of altered splice site)
1520	1524	STRAND		might get lost (downstream of altered splice site)
1525	1527	HELIX		might get lost (downstream of altered splice site)
1530	1530	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
1538	1546	STRAND		might get lost (downstream of altered splice site)
1557	1557	MOD_RES	Phosphothreonine (By similarity).	might get lost (downstream of altered splice site)
1560	1560	CONFLICT	E -> G (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
1566	1570	STRAND		might get lost (downstream of altered splice site)
1573	1580	STRAND		might get lost (downstream of altered splice site)
1586	1590	STRAND		might get lost (downstream of altered splice site)
1593	1596	STRAND		might get lost (downstream of altered splice site)
1602	1602	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1603	1609	STRAND		might get lost (downstream of altered splice site)
1609	1704	REPEAT	Filamin 15.	might get lost (downstream of altered splice site)
1618	1621	STRAND		might get lost (downstream of altered splice site)
1622	1624	HELIX		might get lost (downstream of altered splice site)
1625	1639	STRAND		might get lost (downstream of altered splice site)
1641	1643	STRAND		might get lost (downstream of altered splice site)
1648	1653	STRAND		might get lost (downstream of altered splice site)
1663	1666	STRAND		might get lost (downstream of altered splice site)
1672	1677	STRAND		might get lost (downstream of altered splice site)
1682	1692	STRAND		might get lost (downstream of altered splice site)
1684	1684	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
1699	1705	STRAND		might get lost (downstream of altered splice site)
1705	1728	REGION	Hinge 1 (By similarity).	might get lost (downstream of altered splice site)
1729	1813	REPEAT	Filamin 16.	might get lost (downstream of altered splice site)
1748	1750	STRAND		might get lost (downstream of altered splice site)
1759	1765	STRAND		might get lost (downstream of altered splice site)
1775	1778	STRAND		might get lost (downstream of altered splice site)
1780	1782	STRAND		might get lost (downstream of altered splice site)
1784	1787	STRAND		might get lost (downstream of altered splice site)
1792	1804	STRAND		might get lost (downstream of altered splice site)
1811	1816	STRAND		might get lost (downstream of altered splice site)
1816	1908	REPEAT	Filamin 17.	might get lost (downstream of altered splice site)
1825	1828	STRAND		might get lost (downstream of altered splice site)
1829	1832	HELIX		might get lost (downstream of altered splice site)
1833	1835	STRAND		might get lost (downstream of altered splice site)
1840	1845	STRAND		might get lost (downstream of altered splice site)
1854	1862	STRAND		might get lost (downstream of altered splice site)
1862	2148	REGION	Interaction with the cytoplasmic tail of GP1BA.	might get lost (downstream of altered splice site)
1872	1881	STRAND		might get lost (downstream of altered splice site)
1888	1898	STRAND		might get lost (downstream of altered splice site)
1903	1909	STRAND		might get lost (downstream of altered splice site)
1919	1994	REPEAT	Filamin 18.	might get lost (downstream of altered splice site)
1924	1927	STRAND		might get lost (downstream of altered splice site)
1941	1943	STRAND		might get lost (downstream of altered splice site)
1952	1957	STRAND		might get lost (downstream of altered splice site)
1953	1953	CONFLICT	L -> F (in Ref. 4; AAF97046).	might get lost (downstream of altered splice site)
1958	1960	TURN		might get lost (downstream of altered splice site)
1961	1966	STRAND		might get lost (downstream of altered splice site)
1972	1977	STRAND		might get lost (downstream of altered splice site)
1979	1984	STRAND		might get lost (downstream of altered splice site)
1989	1994	STRAND		might get lost (downstream of altered splice site)
1997	1999	STRAND		might get lost (downstream of altered splice site)
1997	2089	REPEAT	Filamin 19.	might get lost (downstream of altered splice site)
2002	2004	HELIX		might get lost (downstream of altered splice site)
2006	2006	CONFLICT	K -> R (in Ref. 2; AAC33845).	might get lost (downstream of altered splice site)
2006	2010	STRAND		might get lost (downstream of altered splice site)
2011	2013	TURN		might get lost (downstream of altered splice site)
2014	2016	STRAND		might get lost (downstream of altered splice site)
2021	2026	STRAND		might get lost (downstream of altered splice site)
2028	2030	TURN		might get lost (downstream of altered splice site)
2035	2043	STRAND		might get lost (downstream of altered splice site)
2057	2061	STRAND		might get lost (downstream of altered splice site)
2060	2225	REGION	Interaction with FLNA 1.	might get lost (downstream of altered splice site)
2067	2077	STRAND		might get lost (downstream of altered splice site)
2083	2083	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2084	2090	STRAND		might get lost (downstream of altered splice site)
2091	2185	REPEAT	Filamin 20.	might get lost (downstream of altered splice site)
2099	2099	CONFLICT	I -> S (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
2107	2107	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2111	2113	STRAND		might get lost (downstream of altered splice site)
2118	2120	STRAND		might get lost (downstream of altered splice site)
2126	2128	HELIX		might get lost (downstream of altered splice site)
2130	2134	STRAND		might get lost (downstream of altered splice site)
2130	2602	REGION	Interaction with INPPL1.	might get lost (downstream of altered splice site)
2140	2142	STRAND		might get lost (downstream of altered splice site)
2144	2147	STRAND		might get lost (downstream of altered splice site)
2149	2157	STRAND		might get lost (downstream of altered splice site)
2164	2175	STRAND		might get lost (downstream of altered splice site)
2170	2170	CONFLICT	K -> N (in Ref. 4; AAF97046).	might get lost (downstream of altered splice site)
2170	2170	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2180	2185	STRAND		might get lost (downstream of altered splice site)
2188	2280	REPEAT	Filamin 21.	might get lost (downstream of altered splice site)
2193	2195	HELIX		might get lost (downstream of altered splice site)
2201	2203	TURN		might get lost (downstream of altered splice site)
2206	2208	STRAND		might get lost (downstream of altered splice site)
2210	2214	STRAND		might get lost (downstream of altered splice site)
2219	2221	STRAND		might get lost (downstream of altered splice site)
2226	2234	STRAND		might get lost (downstream of altered splice site)
2236	2240	STRAND		might get lost (downstream of altered splice site)
2250	2256	STRAND		might get lost (downstream of altered splice site)
2258	2266	STRAND		might get lost (downstream of altered splice site)
2275	2281	STRAND		might get lost (downstream of altered splice site)
2282	2375	REPEAT	Filamin 22.	might get lost (downstream of altered splice site)
2288	2294	STRAND		might get lost (downstream of altered splice site)
2293	2293	CONFLICT	M -> V (in Ref. 4; AAF97046 and 7; CAE46040).	might get lost (downstream of altered splice site)
2306	2314	STRAND		might get lost (downstream of altered splice site)
2320	2324	STRAND		might get lost (downstream of altered splice site)
2330	2332	STRAND		might get lost (downstream of altered splice site)
2334	2337	STRAND		might get lost (downstream of altered splice site)
2340	2347	STRAND		might get lost (downstream of altered splice site)
2352	2365	STRAND		might get lost (downstream of altered splice site)
2354	2354	CONFLICT	V -> A (in Ref. 11; CAB70818).	might get lost (downstream of altered splice site)
2369	2369	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2370	2375	STRAND		might get lost (downstream of altered splice site)
2379	2471	REPEAT	Filamin 23.	might get lost (downstream of altered splice site)
2384	2386	TURN		might get lost (downstream of altered splice site)
2388	2392	STRAND		might get lost (downstream of altered splice site)
2393	2395	TURN		might get lost (downstream of altered splice site)
2403	2408	STRAND		might get lost (downstream of altered splice site)
2410	2412	TURN		might get lost (downstream of altered splice site)
2417	2425	STRAND		might get lost (downstream of altered splice site)
2430	2433	STRAND		might get lost (downstream of altered splice site)
2435	2442	STRAND		might get lost (downstream of altered splice site)
2448	2459	STRAND		might get lost (downstream of altered splice site)
2466	2473	STRAND		might get lost (downstream of altered splice site)
2468	2468	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ISG15).	might get lost (downstream of altered splice site)
2468	2468	MUTAGEN	K->R: Cytoplasmic localization.	might get lost (downstream of altered splice site)
2472	2506	REGION	Hinge 2 (By similarity).	might get lost (downstream of altered splice site)
2472	2602	REGION	Self-association site, tail (By similarity).	might get lost (downstream of altered splice site)
2478	2478	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2481	2481	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2487	2487	CONFLICT	S -> C (in Ref. 13; AAA35505).	might get lost (downstream of altered splice site)
2502	2502	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
2507	2601	REPEAT	Filamin 24.	might get lost (downstream of altered splice site)
2507	2602	REGION	Interaction with FLNA 2.	might get lost (downstream of altered splice site)
2512	2514	TURN		might get lost (downstream of altered splice site)
2516	2519	STRAND		might get lost (downstream of altered splice site)
2520	2523	HELIX		might get lost (downstream of altered splice site)
2531	2536	STRAND		might get lost (downstream of altered splice site)
2538	2540	TURN		might get lost (downstream of altered splice site)
2545	2547	STRAND		might get lost (downstream of altered splice site)
2557	2565	STRAND		might get lost (downstream of altered splice site)
2568	2574	STRAND		might get lost (downstream of altered splice site)
2571	2571	CONFLICT	V -> A (in Ref. 11; CAB70818).	might get lost (downstream of altered splice site)
2576	2576	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2579	2583	STRAND		might get lost (downstream of altered splice site)
2585	2591	STRAND		might get lost (downstream of altered splice site)
2596	2601	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

6453 / 6453

position (AA) of stopcodon in wt / mu AA sequence

2151 / 2151

position of stopcodon in wt / mu cDNA

6618 / 6618

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

166 / 166

chromosome

strand

last intron/exon boundary

7857

theoretical NMD boundary in CDS

7641

length of CDS

6453

coding sequence (CDS) position

700

cDNA position
(for ins/del: last normal base / first normal base)

865

gDNA position
(for ins/del: last normal base / first normal base)

73290

chromosomal position
(for ins/del: last normal base / first normal base)

58067416

original gDNA sequence snippet

AGCACTCAGTTATGACTTACCTGTCCCAGTTCCCCAAAGCC

altered gDNA sequence snippet

AGCACTCAGTTATGACTTACGTGTCCCAGTTCCCCAAAGCC

original cDNA sequence snippet

AGCACTCAGTTATGACTTACCTGTCCCAGTTCCCCAAAGCC

altered cDNA sequence snippet

AGCACTCAGTTATGACTTACGTGTCCCAGTTCCCCAAAGCC

wildtype AA sequence

mutated AA sequence

MPVTEKDLAE DAPWKKIQQN TFTRWCNEHL KCVNKRIGNL QTDLSDGLRL IALLEVLSQK
RMYRKYHQRP TFRQMQLENV SVALEFLDRE SIKLVSIDSK AIVDGNLKLI LGLVWTLILH
YSISMPVWED EGDDDAKKQT PKQRLLGWIQ NKIPYLPITN FNQNWQDGKA LGALVDSCAP
GLCPDWESWD PQKPVDNARE AMQQADDWLG VPQVITPEEI IHPDVDEHSV MTYVSQFPKA
KLKPGAPLKP KLNPKKARAY GRGIEPTGNM VKQPAKFTVD TISAGQGDVM VFVEDPEGNK
EEAQVTPDSD KNKTYSVEYL PKVTGLHKVT VLFAGQHISK SPFEVSVDKA QGDASKVTAK
GPGLEAVGNI ANKPTYFDIY TAGAGVGDIG VEVEDPQGKN TVELLVEDKG NQVYRCVYKP
MQPGPHVVKI FFAGDTIPKS PFVVQVGEAC NPNACRASGR GLQPKGVRIR ETTDFKVDTK
AAGSGELGVT MKGPKGLEEL VKQKDFLDGV YAFEYYPSTP GRYSIAITWG GHHIPKSPFE
VQVGPEAGMQ KVRAWGPGLH GGIVGRSADF VVESIGSEVG SLGFAIEGPS QAKIEYNDQN
DGSCDVKYWP KEPGEYAVHI MCDDEDIKDS PYMAFIHPAT GGYNPDLVRA YGPGLEKSGC
IVNNLAEFTV DPKDAGKAPL KIFAQDGEGQ RIDIQMKNRM DGTYACSYTP VKAIKHTIAV
VWGGVNIPHS PYRVNIGQGS HPQKVKVFGP GVERSGLKAN EPTHFTVDCT EAGEGDVSVG
IKCDARVLSE DEEDVDFDII HNANDTFTVK YVPPAAGRYT IKVLFASQEI PASPFRVKVD
PSHDASKVKA EGPGLSKAGV ENGKPTHFTV YTKGAGKAPL NVQFNSPLPG DAVKDLDIID
NYDYSHTVKY TPTQQGNMQV LVTYGGDPIP KSPFTVGVAA PLDLSKIKLN GLENRVEVGK
DQEFTVDTRG AGGQGKLDVT ILSPSRKVVP CLVTPVTGRE NSTAKFIPRE EGLYAVDVTY
DGHPVPGSPY TVEASLPPDP SKVKAHGPGL EGGLVGKPAE FTIDTKGAGT GGLGLTVEGP
CEAKIECSDN GDGTCSVSYL PTKPGEYFVN ILFEEVHIPG SPFKADIEMP FDPSKVVASG
PGLEHGKVGE AGLLSVDCSE AGPGALGLEA VSDSGTKAEV SIQNNKDGTY AVTYVPLTAG
MYTLTMKYGG ELVPHFPARV KVEPAVDTSR IKVFGPGIEG KDVFREATTD FTVDSRPLTQ
VGGDHIKAHI ANPSGASTEC FVTDNADGTY QVEYTPFEKG LHVVEVTYDD VPIPNSPFKV
AVTEGCQPSR VQAQGPGLKE AFTNKPNVFT VVTRGAGIGG LGITVEGPSE SKINCRDNKD
GSCSAEYIPF APGDYDVNIT YGGAHIPGSP FRVPVKDVVD PSKVKIAGPG LGSGVRARVL
QSFTVDSSKA GLAPLEVRVL GPRGLVEPVN VVDNGDGTHT VTYTPSQEGP YMVSVKYADE
EIPRSPFKVK VLPTYDASKV TASGPGLSSY GVPASLPVDF AIDARDAGEG LLAVQITDQE
GKPKRAIVHD NKDGTYAVTY IPDKTGRYMI GVTYGGDDIP LSPYRIRATQ TGDASKCLAT
GPGIASTVKT GEEVGFVVDA KTAGKGKVTC TVLTPDGTEA EADVIENEDG TYDIFYTAAK
PGTYVIYVRF GGVDIPNSPF TVMATDGEVT AVEEAPVNAC PPGFRPWVTE EAYVPVSDMN
GLGFKPFDLV IPFAVRKGEI TGEVHMPSGK TATPEIVDNK DGTVTVRYAP TEVGLHEMHI
KYMGSHIPES PLQFYVNYPN SGSVSAYGPG LVYGVANKTA TFTIVTEDAG EGGLDLAIEG
PSKAEISCID NKDGTCTVTY LPTLPGDYSI LVKYNDKHIP GSPFTAKITD DSRRCSQVKL
GSAADFLLDI SETDLSSLTA SIKAPSGRDE PCLLKRLPNN HIGISFIPRE VGEHLVSIKK
NGNHVANSPV SIMVVQSEIG DARRAKVYGR GLSEGRTFEM SDFIVDTRDA GYGGISLAVE
GPSKVDIQTE DLEDGTCKVS YFPTVPGVYI VSTKFADEHV PGSPFTVKIS GEGRVKESIT
RTSRAPSVAT VGSICDLNLK IPGVRVMNCS AQILWGWRVQ FHTGSRNQQQ *

speed

0.61 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999433844178 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM070930)
known disease mutation: rs21296 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:58067416C>GN/A show variant in all transcripts IGV

HGNC symbol

FLNB

Ensembl transcript ID

ENST00000348383

Genbank transcript ID

N/A

UniProt peptide

O75369

alteration type

single base exchange

alteration region

CDS

DNA changes

c.700C>G
cDNA.865C>G
g.73290C>G

AA changes

L234V Score: 32 explain score(s)

position(s) of altered AA
if AA alteration in CDS

234

frameshift

known variant

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.571	1
	3.554	1
(flanking)	5.193	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor increased	73284	wt: 0.30 / mu: 0.98	wt: TTATGACTTACCTGT mu: TTATGACTTACGTGT	ATGA\|ctta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

234

mutated

all conserved

234

Ptroglodytes

all identical

ENSPTRG00000015054

234

Mmulatta

all identical

ENSMMUG00000000706

234

Fcatus

no alignment

ENSFCAG00000006518

n/a

Mmusculus

all identical

ENSMUSG00000025278

234

Ggallus

all identical

ENSGALG00000005678

137

Trubripes

all identical

ENSTRUG00000005042

235

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000008663

234

protein features

start (aa)	end (aa)	feature	details
1	239	DOMAIN	Actin-binding.	lost
139	239	DOMAIN	CH 2.	lost
227	234	HELIX		lost
236	239	HELIX		might get lost (downstream of altered splice site)
249	347	REPEAT	Filamin 1.	might get lost (downstream of altered splice site)
349	446	REPEAT	Filamin 2.	might get lost (downstream of altered splice site)
447	543	REPEAT	Filamin 3.	might get lost (downstream of altered splice site)
519	519	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
544	636	REPEAT	Filamin 4.	might get lost (downstream of altered splice site)
640	736	REPEAT	Filamin 5.	might get lost (downstream of altered splice site)
658	658	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
681	681	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
737	839	REPEAT	Filamin 6.	might get lost (downstream of altered splice site)
816	816	CONFLICT	A -> T (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
840	938	REPEAT	Filamin 7.	might get lost (downstream of altered splice site)
886	886	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
924	924	CONFLICT	Y -> H (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
939	1034	REPEAT	Filamin 8.	might get lost (downstream of altered splice site)
983	983	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1028	1028	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1035	1127	REPEAT	Filamin 9.	might get lost (downstream of altered splice site)
1040	1042	HELIX		might get lost (downstream of altered splice site)
1044	1047	STRAND		might get lost (downstream of altered splice site)
1048	1051	HELIX		might get lost (downstream of altered splice site)
1052	1054	STRAND		might get lost (downstream of altered splice site)
1059	1064	STRAND		might get lost (downstream of altered splice site)
1066	1068	TURN		might get lost (downstream of altered splice site)
1073	1077	STRAND		might get lost (downstream of altered splice site)
1079	1081	STRAND		might get lost (downstream of altered splice site)
1084	1089	STRAND		might get lost (downstream of altered splice site)
1091	1100	STRAND		might get lost (downstream of altered splice site)
1102	1115	STRAND		might get lost (downstream of altered splice site)
1122	1128	STRAND		might get lost (downstream of altered splice site)
1128	1222	REPEAT	Filamin 10.	might get lost (downstream of altered splice site)
1128	1511	REGION	Interaction with FBLP1.	might get lost (downstream of altered splice site)
1133	1135	HELIX		might get lost (downstream of altered splice site)
1136	1140	STRAND		might get lost (downstream of altered splice site)
1141	1143	HELIX		might get lost (downstream of altered splice site)
1154	1160	STRAND		might get lost (downstream of altered splice site)
1166	1172	STRAND		might get lost (downstream of altered splice site)
1173	1175	TURN		might get lost (downstream of altered splice site)
1179	1184	STRAND		might get lost (downstream of altered splice site)
1188	1195	STRAND		might get lost (downstream of altered splice site)
1200	1208	STRAND		might get lost (downstream of altered splice site)
1217	1223	STRAND		might get lost (downstream of altered splice site)
1223	1322	REPEAT	Filamin 11.	might get lost (downstream of altered splice site)
1232	1235	STRAND		might get lost (downstream of altered splice site)
1236	1239	HELIX		might get lost (downstream of altered splice site)
1249	1254	STRAND		might get lost (downstream of altered splice site)
1256	1258	STRAND		might get lost (downstream of altered splice site)
1273	1275	STRAND		might get lost (downstream of altered splice site)
1281	1284	STRAND		might get lost (downstream of altered splice site)
1286	1294	STRAND		might get lost (downstream of altered splice site)
1300	1310	STRAND		might get lost (downstream of altered splice site)
1316	1316	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1317	1321	STRAND		might get lost (downstream of altered splice site)
1323	1415	REPEAT	Filamin 12.	might get lost (downstream of altered splice site)
1332	1335	STRAND		might get lost (downstream of altered splice site)
1336	1339	HELIX		might get lost (downstream of altered splice site)
1347	1352	STRAND		might get lost (downstream of altered splice site)
1354	1356	TURN		might get lost (downstream of altered splice site)
1361	1369	STRAND		might get lost (downstream of altered splice site)
1374	1377	STRAND		might get lost (downstream of altered splice site)
1379	1381	STRAND		might get lost (downstream of altered splice site)
1383	1387	STRAND		might get lost (downstream of altered splice site)
1393	1401	STRAND		might get lost (downstream of altered splice site)
1410	1416	STRAND		might get lost (downstream of altered splice site)
1411	1411	CONFLICT	F -> L (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
1416	1511	REPEAT	Filamin 13.	might get lost (downstream of altered splice site)
1425	1428	STRAND		might get lost (downstream of altered splice site)
1429	1431	TURN		might get lost (downstream of altered splice site)
1433	1433	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1441	1446	STRAND		might get lost (downstream of altered splice site)
1448	1450	TURN		might get lost (downstream of altered splice site)
1455	1460	STRAND		might get lost (downstream of altered splice site)
1462	1464	STRAND		might get lost (downstream of altered splice site)
1475	1483	STRAND		might get lost (downstream of altered splice site)
1489	1501	STRAND		might get lost (downstream of altered splice site)
1505	1505	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1506	1512	STRAND		might get lost (downstream of altered splice site)
1512	1608	REPEAT	Filamin 14.	might get lost (downstream of altered splice site)
1517	1519	HELIX		might get lost (downstream of altered splice site)
1520	1524	STRAND		might get lost (downstream of altered splice site)
1525	1527	HELIX		might get lost (downstream of altered splice site)
1530	1530	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
1538	1546	STRAND		might get lost (downstream of altered splice site)
1557	1557	MOD_RES	Phosphothreonine (By similarity).	might get lost (downstream of altered splice site)
1560	1560	CONFLICT	E -> G (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
1566	1570	STRAND		might get lost (downstream of altered splice site)
1573	1580	STRAND		might get lost (downstream of altered splice site)
1586	1590	STRAND		might get lost (downstream of altered splice site)
1593	1596	STRAND		might get lost (downstream of altered splice site)
1602	1602	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1603	1609	STRAND		might get lost (downstream of altered splice site)
1609	1704	REPEAT	Filamin 15.	might get lost (downstream of altered splice site)
1618	1621	STRAND		might get lost (downstream of altered splice site)
1622	1624	HELIX		might get lost (downstream of altered splice site)
1625	1639	STRAND		might get lost (downstream of altered splice site)
1641	1643	STRAND		might get lost (downstream of altered splice site)
1648	1653	STRAND		might get lost (downstream of altered splice site)
1663	1666	STRAND		might get lost (downstream of altered splice site)
1672	1677	STRAND		might get lost (downstream of altered splice site)
1682	1692	STRAND		might get lost (downstream of altered splice site)
1684	1684	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
1699	1705	STRAND		might get lost (downstream of altered splice site)
1705	1728	REGION	Hinge 1 (By similarity).	might get lost (downstream of altered splice site)
1729	1813	REPEAT	Filamin 16.	might get lost (downstream of altered splice site)
1748	1750	STRAND		might get lost (downstream of altered splice site)
1759	1765	STRAND		might get lost (downstream of altered splice site)
1775	1778	STRAND		might get lost (downstream of altered splice site)
1780	1782	STRAND		might get lost (downstream of altered splice site)
1784	1787	STRAND		might get lost (downstream of altered splice site)
1792	1804	STRAND		might get lost (downstream of altered splice site)
1811	1816	STRAND		might get lost (downstream of altered splice site)
1816	1908	REPEAT	Filamin 17.	might get lost (downstream of altered splice site)
1825	1828	STRAND		might get lost (downstream of altered splice site)
1829	1832	HELIX		might get lost (downstream of altered splice site)
1833	1835	STRAND		might get lost (downstream of altered splice site)
1840	1845	STRAND		might get lost (downstream of altered splice site)
1854	1862	STRAND		might get lost (downstream of altered splice site)
1862	2148	REGION	Interaction with the cytoplasmic tail of GP1BA.	might get lost (downstream of altered splice site)
1872	1881	STRAND		might get lost (downstream of altered splice site)
1888	1898	STRAND		might get lost (downstream of altered splice site)
1903	1909	STRAND		might get lost (downstream of altered splice site)
1919	1994	REPEAT	Filamin 18.	might get lost (downstream of altered splice site)
1924	1927	STRAND		might get lost (downstream of altered splice site)
1941	1943	STRAND		might get lost (downstream of altered splice site)
1952	1957	STRAND		might get lost (downstream of altered splice site)
1953	1953	CONFLICT	L -> F (in Ref. 4; AAF97046).	might get lost (downstream of altered splice site)
1958	1960	TURN		might get lost (downstream of altered splice site)
1961	1966	STRAND		might get lost (downstream of altered splice site)
1972	1977	STRAND		might get lost (downstream of altered splice site)
1979	1984	STRAND		might get lost (downstream of altered splice site)
1989	1994	STRAND		might get lost (downstream of altered splice site)
1997	1999	STRAND		might get lost (downstream of altered splice site)
1997	2089	REPEAT	Filamin 19.	might get lost (downstream of altered splice site)
2002	2004	HELIX		might get lost (downstream of altered splice site)
2006	2006	CONFLICT	K -> R (in Ref. 2; AAC33845).	might get lost (downstream of altered splice site)
2006	2010	STRAND		might get lost (downstream of altered splice site)
2011	2013	TURN		might get lost (downstream of altered splice site)
2014	2016	STRAND		might get lost (downstream of altered splice site)
2021	2026	STRAND		might get lost (downstream of altered splice site)
2028	2030	TURN		might get lost (downstream of altered splice site)
2035	2043	STRAND		might get lost (downstream of altered splice site)
2057	2061	STRAND		might get lost (downstream of altered splice site)
2060	2225	REGION	Interaction with FLNA 1.	might get lost (downstream of altered splice site)
2067	2077	STRAND		might get lost (downstream of altered splice site)
2083	2083	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2084	2090	STRAND		might get lost (downstream of altered splice site)
2091	2185	REPEAT	Filamin 20.	might get lost (downstream of altered splice site)
2099	2099	CONFLICT	I -> S (in Ref. 7; CAE46040).	might get lost (downstream of altered splice site)
2107	2107	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2111	2113	STRAND		might get lost (downstream of altered splice site)
2118	2120	STRAND		might get lost (downstream of altered splice site)
2126	2128	HELIX		might get lost (downstream of altered splice site)
2130	2134	STRAND		might get lost (downstream of altered splice site)
2130	2602	REGION	Interaction with INPPL1.	might get lost (downstream of altered splice site)
2140	2142	STRAND		might get lost (downstream of altered splice site)
2144	2147	STRAND		might get lost (downstream of altered splice site)
2149	2157	STRAND		might get lost (downstream of altered splice site)
2164	2175	STRAND		might get lost (downstream of altered splice site)
2170	2170	CONFLICT	K -> N (in Ref. 4; AAF97046).	might get lost (downstream of altered splice site)
2170	2170	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2180	2185	STRAND		might get lost (downstream of altered splice site)
2188	2280	REPEAT	Filamin 21.	might get lost (downstream of altered splice site)
2193	2195	HELIX		might get lost (downstream of altered splice site)
2201	2203	TURN		might get lost (downstream of altered splice site)
2206	2208	STRAND		might get lost (downstream of altered splice site)
2210	2214	STRAND		might get lost (downstream of altered splice site)
2219	2221	STRAND		might get lost (downstream of altered splice site)
2226	2234	STRAND		might get lost (downstream of altered splice site)
2236	2240	STRAND		might get lost (downstream of altered splice site)
2250	2256	STRAND		might get lost (downstream of altered splice site)
2258	2266	STRAND		might get lost (downstream of altered splice site)
2275	2281	STRAND		might get lost (downstream of altered splice site)
2282	2375	REPEAT	Filamin 22.	might get lost (downstream of altered splice site)
2288	2294	STRAND		might get lost (downstream of altered splice site)
2293	2293	CONFLICT	M -> V (in Ref. 4; AAF97046 and 7; CAE46040).	might get lost (downstream of altered splice site)
2306	2314	STRAND		might get lost (downstream of altered splice site)
2320	2324	STRAND		might get lost (downstream of altered splice site)
2330	2332	STRAND		might get lost (downstream of altered splice site)
2334	2337	STRAND		might get lost (downstream of altered splice site)
2340	2347	STRAND		might get lost (downstream of altered splice site)
2352	2365	STRAND		might get lost (downstream of altered splice site)
2354	2354	CONFLICT	V -> A (in Ref. 11; CAB70818).	might get lost (downstream of altered splice site)
2369	2369	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2370	2375	STRAND		might get lost (downstream of altered splice site)
2379	2471	REPEAT	Filamin 23.	might get lost (downstream of altered splice site)
2384	2386	TURN		might get lost (downstream of altered splice site)
2388	2392	STRAND		might get lost (downstream of altered splice site)
2393	2395	TURN		might get lost (downstream of altered splice site)
2403	2408	STRAND		might get lost (downstream of altered splice site)
2410	2412	TURN		might get lost (downstream of altered splice site)
2417	2425	STRAND		might get lost (downstream of altered splice site)
2430	2433	STRAND		might get lost (downstream of altered splice site)
2435	2442	STRAND		might get lost (downstream of altered splice site)
2448	2459	STRAND		might get lost (downstream of altered splice site)
2466	2473	STRAND		might get lost (downstream of altered splice site)
2468	2468	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ISG15).	might get lost (downstream of altered splice site)
2468	2468	MUTAGEN	K->R: Cytoplasmic localization.	might get lost (downstream of altered splice site)
2472	2506	REGION	Hinge 2 (By similarity).	might get lost (downstream of altered splice site)
2472	2602	REGION	Self-association site, tail (By similarity).	might get lost (downstream of altered splice site)
2478	2478	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2481	2481	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2487	2487	CONFLICT	S -> C (in Ref. 13; AAA35505).	might get lost (downstream of altered splice site)
2502	2502	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
2507	2601	REPEAT	Filamin 24.	might get lost (downstream of altered splice site)
2507	2602	REGION	Interaction with FLNA 2.	might get lost (downstream of altered splice site)
2512	2514	TURN		might get lost (downstream of altered splice site)
2516	2519	STRAND		might get lost (downstream of altered splice site)
2520	2523	HELIX		might get lost (downstream of altered splice site)
2531	2536	STRAND		might get lost (downstream of altered splice site)
2538	2540	TURN		might get lost (downstream of altered splice site)
2545	2547	STRAND		might get lost (downstream of altered splice site)
2557	2565	STRAND		might get lost (downstream of altered splice site)
2568	2574	STRAND		might get lost (downstream of altered splice site)
2571	2571	CONFLICT	V -> A (in Ref. 11; CAB70818).	might get lost (downstream of altered splice site)
2576	2576	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2579	2583	STRAND		might get lost (downstream of altered splice site)
2585	2591	STRAND		might get lost (downstream of altered splice site)
2596	2601	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

7686 / 7686

position (AA) of stopcodon in wt / mu AA sequence

2562 / 2562

position of stopcodon in wt / mu cDNA

7851 / 7851

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

166 / 166

chromosome

strand

last intron/exon boundary

7664

theoretical NMD boundary in CDS

7448

length of CDS

7686

coding sequence (CDS) position

700

cDNA position
(for ins/del: last normal base / first normal base)

865

gDNA position
(for ins/del: last normal base / first normal base)

73290

chromosomal position
(for ins/del: last normal base / first normal base)

58067416

original gDNA sequence snippet

AGCACTCAGTTATGACTTACCTGTCCCAGTTCCCCAAAGCC

altered gDNA sequence snippet

AGCACTCAGTTATGACTTACGTGTCCCAGTTCCCCAAAGCC

original cDNA sequence snippet

AGCACTCAGTTATGACTTACCTGTCCCAGTTCCCCAAAGCC

altered cDNA sequence snippet

AGCACTCAGTTATGACTTACGTGTCCCAGTTCCCCAAAGCC

wildtype AA sequence

MPVTEKDLAE DAPWKKIQQN TFTRWCNEHL KCVNKRIGNL QTDLSDGLRL IALLEVLSQK
RMYRKYHQRP TFRQMQLENV SVALEFLDRE SIKLVSIDSK AIVDGNLKLI LGLVWTLILH
YSISMPVWED EGDDDAKKQT PKQRLLGWIQ NKIPYLPITN FNQNWQDGKA LGALVDSCAP
GLCPDWESWD PQKPVDNARE AMQQADDWLG VPQVITPEEI IHPDVDEHSV MTYLSQFPKA
KLKPGAPLKP KLNPKKARAY GRGIEPTGNM VKQPAKFTVD TISAGQGDVM VFVEDPEGNK
EEAQVTPDSD KNKTYSVEYL PKVTGLHKVT VLFAGQHISK SPFEVSVDKA QGDASKVTAK
GPGLEAVGNI ANKPTYFDIY TAGAGVGDIG VEVEDPQGKN TVELLVEDKG NQVYRCVYKP
MQPGPHVVKI FFAGDTIPKS PFVVQVGEAC NPNACRASGR GLQPKGVRIR ETTDFKVDTK
AAGSGELGVT MKGPKGLEEL VKQKDFLDGV YAFEYYPSTP GRYSIAITWG GHHIPKSPFE
VQVGPEAGMQ KVRAWGPGLH GGIVGRSADF VVESIGSEVG SLGFAIEGPS QAKIEYNDQN
DGSCDVKYWP KEPGEYAVHI MCDDEDIKDS PYMAFIHPAT GGYNPDLVRA YGPGLEKSGC
IVNNLAEFTV DPKDAGKAPL KIFAQDGEGQ RIDIQMKNRM DGTYACSYTP VKAIKHTIAV
VWGGVNIPHS PYRVNIGQGS HPQKVKVFGP GVERSGLKAN EPTHFTVDCT EAGEGDVSVG
IKCDARVLSE DEEDVDFDII HNANDTFTVK YVPPAAGRYT IKVLFASQEI PASPFRVKVD
PSHDASKVKA EGPGLSKAGV ENGKPTHFTV YTKGAGKAPL NVQFNSPLPG DAVKDLDIID
NYDYSHTVKY TPTQQGNMQV LVTYGGDPIP KSPFTVGVAA PLDLSKIKLN GLENRVEVGK
DQEFTVDTRG AGGQGKLDVT ILSPSRKVVP CLVTPVTGRE NSTAKFIPRE EGLYAVDVTY
DGHPVPGSPY TVEASLPPDP SKVKAHGPGL EGGLVGKPAE FTIDTKGAGT GGLGLTVEGP
CEAKIECSDN GDGTCSVSYL PTKPGEYFVN ILFEEVHIPG SPFKADIEMP FDPSKVVASG
PGLEHGKVGE AGLLSVDCSE AGPGALGLEA VSDSGTKAEV SIQNNKDGTY AVTYVPLTAG
MYTLTMKYGG ELVPHFPARV KVEPAVDTSR IKVFGPGIEG KDVFREATTD FTVDSRPLTQ
VGGDHIKAHI ANPSGASTEC FVTDNADGTY QVEYTPFEKG LHVVEVTYDD VPIPNSPFKV
AVTEGCQPSR VQAQGPGLKE AFTNKPNVFT VVTRGAGIGG LGITVEGPSE SKINCRDNKD
GSCSAEYIPF APGDYDVNIT YGGAHIPGSP FRVPVKDVVD PSKVKIAGPG LGSGVRARVL
QSFTVDSSKA GLAPLEVRVL GPRGLVEPVN VVDNGDGTHT VTYTPSQEGP YMVSVKYADE
EIPRSPFKVK VLPTYDASKV TASGPGLSSY GVPASLPVDF AIDARDAGEG LLAVQITDQE
GKPKRAIVHD NKDGTYAVTY IPDKTGRYMI GVTYGGDDIP LSPYRIRATQ TGDASKCLAT
GPGIASTVKT GEEVGFVVDA KTAGKGKVTC TVLTPDGTEA EADVIENEDG TYDIFYTAAK
PGTYVIYVRF GGVDIPNSPF TVMATDGEVT AVEEAPVNAC PPGFRPWVTE EAYVPVSDMN
GLGFKPFDLV IPFAVRKGEI TGEVHMPSGK TATPEIVDNK DGTVTVRYAP TEVGLHEMHI
KYMGSHIPES PLQFYVNYPN SGSVSAYGPG LVYGVANKTA TFTIVTEDAG EGGLDLAIEG
PSKAEISCID NKDGTCTVTY LPTLPGDYSI LVKYNDKHIP GSPFTAKITD DSRRCSQVKL
GSAADFLLDI SETDLSSLTA SIKAPSGRDE PCLLKRLPNN HIGISFIPRE VGEHLVSIKK
NGNHVANSPV SIMVVQSEIG DARRAKVYGR GLSEGRTFEM SDFIVDTRDA GYGGISLAVE
GPSKVDIQTE DLEDGTCKVS YFPTVPGVYI VSTKFADEHV PEINSSDMSA HVTSPSGRVT
EAEIVPMGKN SHCVRFVPQE MGVHTVSVKY RGQHVTGSPF QFTVGPLGEG GAHKVRAGGP
GLERGEAGVP AEFSIWTREA GAGGLSIAVE GPSKAEITFD DHKNGSCGVS YIAQEPGNYE
VSIKFNDEHI PESPYLVPVI APSDDARRLT VMSLQESGLK VNQPASFAIR LNGAKGKIDA
KVHSPSGAVE ECHVSELEPD KYAVRFIPHE NGVHTIDVKF NGSHVVGSPF KVRVGEPGQA
GNPALVSAYG TGLEGGTTGI QSEFFINTTR AGPGTLSVTI EGPSKVKMDC QETPEGYKVM
YTPMAPGNYL ISVKYGGPNH IVGSPFKAKV TGQRLVSPGS ANETSSILVE SVTRSSTETC
YSAIPKASSD ASKVTSKGAG LSKAFVGQKS SFLVDCSKAG SNMLLIGVHG PTTPCEEVSM
KHVGNQQYNV TYVVKERGDY VLAVKWGEEH IPGSPFHVTV P*

mutated AA sequence

MPVTEKDLAE DAPWKKIQQN TFTRWCNEHL KCVNKRIGNL QTDLSDGLRL IALLEVLSQK
RMYRKYHQRP TFRQMQLENV SVALEFLDRE SIKLVSIDSK AIVDGNLKLI LGLVWTLILH
YSISMPVWED EGDDDAKKQT PKQRLLGWIQ NKIPYLPITN FNQNWQDGKA LGALVDSCAP
GLCPDWESWD PQKPVDNARE AMQQADDWLG VPQVITPEEI IHPDVDEHSV MTYVSQFPKA
KLKPGAPLKP KLNPKKARAY GRGIEPTGNM VKQPAKFTVD TISAGQGDVM VFVEDPEGNK
EEAQVTPDSD KNKTYSVEYL PKVTGLHKVT VLFAGQHISK SPFEVSVDKA QGDASKVTAK
GPGLEAVGNI ANKPTYFDIY TAGAGVGDIG VEVEDPQGKN TVELLVEDKG NQVYRCVYKP
MQPGPHVVKI FFAGDTIPKS PFVVQVGEAC NPNACRASGR GLQPKGVRIR ETTDFKVDTK
AAGSGELGVT MKGPKGLEEL VKQKDFLDGV YAFEYYPSTP GRYSIAITWG GHHIPKSPFE
VQVGPEAGMQ KVRAWGPGLH GGIVGRSADF VVESIGSEVG SLGFAIEGPS QAKIEYNDQN
DGSCDVKYWP KEPGEYAVHI MCDDEDIKDS PYMAFIHPAT GGYNPDLVRA YGPGLEKSGC
IVNNLAEFTV DPKDAGKAPL KIFAQDGEGQ RIDIQMKNRM DGTYACSYTP VKAIKHTIAV
VWGGVNIPHS PYRVNIGQGS HPQKVKVFGP GVERSGLKAN EPTHFTVDCT EAGEGDVSVG
IKCDARVLSE DEEDVDFDII HNANDTFTVK YVPPAAGRYT IKVLFASQEI PASPFRVKVD
PSHDASKVKA EGPGLSKAGV ENGKPTHFTV YTKGAGKAPL NVQFNSPLPG DAVKDLDIID
NYDYSHTVKY TPTQQGNMQV LVTYGGDPIP KSPFTVGVAA PLDLSKIKLN GLENRVEVGK
DQEFTVDTRG AGGQGKLDVT ILSPSRKVVP CLVTPVTGRE NSTAKFIPRE EGLYAVDVTY
DGHPVPGSPY TVEASLPPDP SKVKAHGPGL EGGLVGKPAE FTIDTKGAGT GGLGLTVEGP
CEAKIECSDN GDGTCSVSYL PTKPGEYFVN ILFEEVHIPG SPFKADIEMP FDPSKVVASG
PGLEHGKVGE AGLLSVDCSE AGPGALGLEA VSDSGTKAEV SIQNNKDGTY AVTYVPLTAG
MYTLTMKYGG ELVPHFPARV KVEPAVDTSR IKVFGPGIEG KDVFREATTD FTVDSRPLTQ
VGGDHIKAHI ANPSGASTEC FVTDNADGTY QVEYTPFEKG LHVVEVTYDD VPIPNSPFKV
AVTEGCQPSR VQAQGPGLKE AFTNKPNVFT VVTRGAGIGG LGITVEGPSE SKINCRDNKD
GSCSAEYIPF APGDYDVNIT YGGAHIPGSP FRVPVKDVVD PSKVKIAGPG LGSGVRARVL
QSFTVDSSKA GLAPLEVRVL GPRGLVEPVN VVDNGDGTHT VTYTPSQEGP YMVSVKYADE
EIPRSPFKVK VLPTYDASKV TASGPGLSSY GVPASLPVDF AIDARDAGEG LLAVQITDQE
GKPKRAIVHD NKDGTYAVTY IPDKTGRYMI GVTYGGDDIP LSPYRIRATQ TGDASKCLAT
GPGIASTVKT GEEVGFVVDA KTAGKGKVTC TVLTPDGTEA EADVIENEDG TYDIFYTAAK
PGTYVIYVRF GGVDIPNSPF TVMATDGEVT AVEEAPVNAC PPGFRPWVTE EAYVPVSDMN
GLGFKPFDLV IPFAVRKGEI TGEVHMPSGK TATPEIVDNK DGTVTVRYAP TEVGLHEMHI
KYMGSHIPES PLQFYVNYPN SGSVSAYGPG LVYGVANKTA TFTIVTEDAG EGGLDLAIEG
PSKAEISCID NKDGTCTVTY LPTLPGDYSI LVKYNDKHIP GSPFTAKITD DSRRCSQVKL
GSAADFLLDI SETDLSSLTA SIKAPSGRDE PCLLKRLPNN HIGISFIPRE VGEHLVSIKK
NGNHVANSPV SIMVVQSEIG DARRAKVYGR GLSEGRTFEM SDFIVDTRDA GYGGISLAVE
GPSKVDIQTE DLEDGTCKVS YFPTVPGVYI VSTKFADEHV PEINSSDMSA HVTSPSGRVT
EAEIVPMGKN SHCVRFVPQE MGVHTVSVKY RGQHVTGSPF QFTVGPLGEG GAHKVRAGGP
GLERGEAGVP AEFSIWTREA GAGGLSIAVE GPSKAEITFD DHKNGSCGVS YIAQEPGNYE
VSIKFNDEHI PESPYLVPVI APSDDARRLT VMSLQESGLK VNQPASFAIR LNGAKGKIDA
KVHSPSGAVE ECHVSELEPD KYAVRFIPHE NGVHTIDVKF NGSHVVGSPF KVRVGEPGQA
GNPALVSAYG TGLEGGTTGI QSEFFINTTR AGPGTLSVTI EGPSKVKMDC QETPEGYKVM
YTPMAPGNYL ISVKYGGPNH IVGSPFKAKV TGQRLVSPGS ANETSSILVE SVTRSSTETC
YSAIPKASSD ASKVTSKGAG LSKAFVGQKS SFLVDCSKAG SNMLLIGVHG PTTPCEEVSM
KHVGNQQYNV TYVVKERGDY VLAVKWGEEH IPGSPFHVTV P*

speed

0.81 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems