mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999962258077 (explain)

Summary

amino acid sequence changed
heterozygous in TGP or ExAC
known disease mutation at this position (HGMD CM041238)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr4:114288920C>AN/A show variant in all transcripts IGV

HGNC symbol

ANK2

Ensembl transcript ID

ENST00000510275

Genbank transcript ID

N/A

UniProt peptide

Q01484

alteration type

single base exchange

alteration region

CDS

DNA changes

c.932C>A
cDNA.938C>A
g.549656C>A

AA changes

T311N Score: 65 explain score(s)

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

311

frameshift

known variant

Reference ID: rs121912705

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	75	75

known disease mutation at this position, please check HGMD for details (HGMD ID CM041238)

known disease mutation at this position, please check HGMD for details (HGMD ID CM041238)
known disease mutation at this position, please check HGMD for details (HGMD ID CM041238)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.386	0.013
	0.916	0.107
(flanking)	-0.064	0.14

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	549650	wt: 0.66 / mu: 0.83	wt: CTTTCCCCAAACTCA mu: CTTTCCCCAAAATCA	TTCC\|ccaa
Donor increased	549660	wt: 0.40 / mu: 0.68	wt: ACTCACAAGGAGCAA mu: AATCACAAGGAGCAA	TCAC\|aagg
Donor marginally increased	549657	wt: 0.9512 / mu: 0.9516 (marginal change - not scored)	wt: CAAACTCACAAGGAG mu: CAAAATCACAAGGAG	AACT\|caca
Acc gained	549655	0.38	mu: CAACAGCACTCTTTCCCCAAAATCACAAGGAGCAAGTTCAA	caaa\|ATCA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

311

mutated

not conserved

311

Ptroglodytes

all identical

ENSPTRG00000016382

3744

Mmulatta

all identical

ENSMMUG00000008633

1659

Fcatus

all identical

ENSFCAG00000005384

3734

Mmusculus

not conserved

ENSMUSG00000032826

786

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000009026

1688

Dmelanogaster

all identical

FBgn0261788

1583

Celegans

not conserved

B0350.2

1721

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
298	327	REPEAT	ANK 9.	lost
331	360	REPEAT	ANK 10.	might get lost (downstream of altered splice site)
364	393	REPEAT	ANK 11.	might get lost (downstream of altered splice site)
378	378	MOD_RES	Phosphotyrosine (By similarity).	might get lost (downstream of altered splice site)
397	426	REPEAT	ANK 12.	might get lost (downstream of altered splice site)
430	459	REPEAT	ANK 13.	might get lost (downstream of altered splice site)
463	492	REPEAT	ANK 14.	might get lost (downstream of altered splice site)
475	476	CONFLICT	GQ -> PE (in Ref. 7; AAA62828).	might get lost (downstream of altered splice site)
496	525	REPEAT	ANK 15.	might get lost (downstream of altered splice site)
529	558	REPEAT	ANK 16.	might get lost (downstream of altered splice site)
531	531	MOD_RES	Phosphotyrosine (By similarity).	might get lost (downstream of altered splice site)
562	591	REPEAT	ANK 17.	might get lost (downstream of altered splice site)
595	624	REPEAT	ANK 18.	might get lost (downstream of altered splice site)
628	657	REPEAT	ANK 19.	might get lost (downstream of altered splice site)
661	690	REPEAT	ANK 20.	might get lost (downstream of altered splice site)
694	723	REPEAT	ANK 21.	might get lost (downstream of altered splice site)
727	756	REPEAT	ANK 22.	might get lost (downstream of altered splice site)
760	789	REPEAT	ANK 23.	might get lost (downstream of altered splice site)
793	822	REPEAT	ANK 24.	might get lost (downstream of altered splice site)
846	846	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
898	898	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
911	911	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
966	1124	DOMAIN	ZU5 1.	might get lost (downstream of altered splice site)
966	1125	REGION	Interaction with SPTBN1.	might get lost (downstream of altered splice site)
969	974	STRAND		might get lost (downstream of altered splice site)
975	977	MUTAGEN	DAR->AAA: Prevents binding to SPTBN1.	might get lost (downstream of altered splice site)
979	982	STRAND		might get lost (downstream of altered splice site)
984	986	STRAND		might get lost (downstream of altered splice site)
990	993	STRAND		might get lost (downstream of altered splice site)
1000	1000	MUTAGEN	A->P: Prevents binding to SPTBN1.	might get lost (downstream of altered splice site)
1002	1009	STRAND		might get lost (downstream of altered splice site)
1025	1028	STRAND		might get lost (downstream of altered splice site)
1031	1035	STRAND		might get lost (downstream of altered splice site)
1073	1082	STRAND		might get lost (downstream of altered splice site)
1088	1091	TURN		might get lost (downstream of altered splice site)
1092	1103	STRAND		might get lost (downstream of altered splice site)
1100	1103	MUTAGEN	ENGD->AAGA: Weak binding to SPTBN1.	might get lost (downstream of altered splice site)
1125	1288	DOMAIN	ZU5 2.	might get lost (downstream of altered splice site)
1131	1137	HELIX		might get lost (downstream of altered splice site)
1139	1146	STRAND		might get lost (downstream of altered splice site)
1149	1157	STRAND		might get lost (downstream of altered splice site)
1159	1165	STRAND		might get lost (downstream of altered splice site)
1168	1172	STRAND		might get lost (downstream of altered splice site)
1174	1176	STRAND		might get lost (downstream of altered splice site)
1180	1183	STRAND		might get lost (downstream of altered splice site)
1192	1199	STRAND		might get lost (downstream of altered splice site)
1203	1210	HELIX		might get lost (downstream of altered splice site)
1213	1216	STRAND		might get lost (downstream of altered splice site)
1219	1226	STRAND		might get lost (downstream of altered splice site)
1228	1238	STRAND		might get lost (downstream of altered splice site)
1258	1263	STRAND		might get lost (downstream of altered splice site)
1277	1279	HELIX		might get lost (downstream of altered splice site)
1283	1285	STRAND		might get lost (downstream of altered splice site)
1288	1295	STRAND		might get lost (downstream of altered splice site)
1289	1423	REGION	UPA domain.	might get lost (downstream of altered splice site)
1298	1305	STRAND		might get lost (downstream of altered splice site)
1307	1309	HELIX		might get lost (downstream of altered splice site)
1310	1321	HELIX		might get lost (downstream of altered splice site)
1325	1335	STRAND		might get lost (downstream of altered splice site)
1338	1349	STRAND		might get lost (downstream of altered splice site)
1357	1359	HELIX		might get lost (downstream of altered splice site)
1365	1369	STRAND		might get lost (downstream of altered splice site)
1373	1376	STRAND		might get lost (downstream of altered splice site)
1380	1391	STRAND		might get lost (downstream of altered splice site)
1382	1382	MOD_RES	Phosphotyrosine (By similarity).	might get lost (downstream of altered splice site)
1399	1402	STRAND		might get lost (downstream of altered splice site)
1410	1418	STRAND		might get lost (downstream of altered splice site)
1424	1432	STRAND		might get lost (downstream of altered splice site)
1445	1451	STRAND		might get lost (downstream of altered splice site)
1450	1535	DOMAIN	Death 1.	might get lost (downstream of altered splice site)
1461	1461	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1508	1508	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1523	1523	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1806	1817	REPEAT	Repeat A.	might get lost (downstream of altered splice site)
1806	1983	REGION	Repeat-rich region.	might get lost (downstream of altered splice site)
1818	1829	REPEAT	Repeat A.	might get lost (downstream of altered splice site)
1830	1841	REPEAT	Repeat A.	might get lost (downstream of altered splice site)
1842	1853	REPEAT	Repeat A.	might get lost (downstream of altered splice site)
1854	1865	REPEAT	Repeat A.	might get lost (downstream of altered splice site)
1866	1877	REPEAT	Repeat A.	might get lost (downstream of altered splice site)
1878	1889	REPEAT	Repeat A.	might get lost (downstream of altered splice site)
1890	1900	REPEAT	Repeat A; approximate.	might get lost (downstream of altered splice site)
1901	1912	REPEAT	Repeat A.	might get lost (downstream of altered splice site)
1913	1924	REPEAT	Repeat A.	might get lost (downstream of altered splice site)
1925	1935	REPEAT	Repeat A; approximate.	might get lost (downstream of altered splice site)
1936	1947	REPEAT	Repeat A.	might get lost (downstream of altered splice site)
1948	1959	REPEAT	Repeat A.	might get lost (downstream of altered splice site)
1960	1971	REPEAT	Repeat A.	might get lost (downstream of altered splice site)
1972	1983	REPEAT	Repeat A.	might get lost (downstream of altered splice site)
2583	2583	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2787	2787	CONFLICT	A -> R (in Ref. 3; CAB42644).	might get lost (downstream of altered splice site)
2999	2999	CONFLICT	Q -> L (in Ref. 3; CAB42644).	might get lost (downstream of altered splice site)
3093	3093	MOD_RES	Phosphothreonine (By similarity).	might get lost (downstream of altered splice site)
3140	3141	CONFLICT	EE -> RY (in Ref. 5; AC093879).	might get lost (downstream of altered splice site)
3185	3185	CONFLICT	D -> S (in Ref. 3; CAB42644).	might get lost (downstream of altered splice site)
3273	3273	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
3362	3362	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
3390	3390	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
3409	3409	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
3410	3410	MOD_RES	Phosphotyrosine (By similarity).	might get lost (downstream of altered splice site)
3569	3653	DOMAIN	Death 2.	might get lost (downstream of altered splice site)
3571	3580	HELIX		might get lost (downstream of altered splice site)
3583	3590	HELIX		might get lost (downstream of altered splice site)
3595	3604	HELIX		might get lost (downstream of altered splice site)
3609	3624	HELIX		might get lost (downstream of altered splice site)
3625	3627	HELIX		might get lost (downstream of altered splice site)
3630	3639	HELIX		might get lost (downstream of altered splice site)
3643	3646	HELIX		might get lost (downstream of altered splice site)
3699	3699	CONFLICT	V -> A (in Ref. 4; CAD97827).	might get lost (downstream of altered splice site)
3735	3735	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
3737	3737	CONFLICT	A -> S (in Ref. 1; CAA40279 and 3; CAB42644).	might get lost (downstream of altered splice site)
3776	3776	MOD_RES	Phosphothreonine (By similarity).	might get lost (downstream of altered splice site)
3793	3793	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
3795	3795	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
3797	3797	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
3802	3802	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
3803	3803	MOD_RES	Phosphothreonine (By similarity).	might get lost (downstream of altered splice site)
3823	3823	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
3844	3844	MOD_RES	Phosphothreonine (By similarity).	might get lost (downstream of altered splice site)
3955	3956	CONFLICT	NN -> SM (in Ref. 5; AC093879).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1668 / 1668

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

556 / 556

position of stopcodon in wt / mu cDNA

1674 / 1674

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

7 / 7

chromosome

strand

last intron/exon boundary

1660

theoretical NMD boundary in CDS

1603

length of CDS

1668

coding sequence (CDS) position

932

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

938

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

549656

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

114288920

original gDNA sequence snippet

AACAGCACTCTTTCCCCAAACTCACAAGGAGCAAGTTCAAC

altered gDNA sequence snippet

AACAGCACTCTTTCCCCAAAATCACAAGGAGCAAGTTCAAC

original cDNA sequence snippet

AACAGCACTCTTTCCCCAAACTCACAAGGAGCAAGTTCAAC

altered cDNA sequence snippet

AACAGCACTCTTTCCCCAAAATCACAAGGAGCAAGTTCAAC

wildtype AA sequence

MTDDKVDKTL EQQENFAEVA RSRDVEVLEG KPIYVDCFGN LVPLTKSGQH HIFSFFAFKE
NRLPLFVKVR DTTQEPCGRL SFMKEPKSTR GLVHQAICNL NITLPIYTKE SESDQEQEEE
IDMTSEKNPQ DEQERIEERL AYIADHLGFS WTELARELDF TEEQIHQIRI ENPNSLQDQS
HALLKYWLER DGKHATDTNL VECLTKINRM DIVHLMETNT EPLQERISHS YAEIEQTITL
DHSEGFSVLQ EELCTAQHKQ KEEQAVSKES ETCDHPPIVS EEDISVGYST FQDGVPKTEG
DSSATALFPQ THKEQVQQDF SGKMQDLPEE SSLEYQQEYF VTTPGTETSE TQKAMIVPSS
PSKTPEEVST PAEEEKLYLQ TPTSSERGGS PIIQEPEEPS EHREESSPRK TSLVIVESAD
NQPETCERLD EDAAFEKELT EELGELEASS DEEAMVTTRV VRRRVIIQGD DMPEIPPETV
TEEEYIDEHG HTVVKKVTRK IIRRYVSSEG TEKEEIMVQG MPQEPVNIEE GDGYSKVIKR
VVLKSDTEQS EDNNE*

mutated AA sequence

MTDDKVDKTL EQQENFAEVA RSRDVEVLEG KPIYVDCFGN LVPLTKSGQH HIFSFFAFKE
NRLPLFVKVR DTTQEPCGRL SFMKEPKSTR GLVHQAICNL NITLPIYTKE SESDQEQEEE
IDMTSEKNPQ DEQERIEERL AYIADHLGFS WTELARELDF TEEQIHQIRI ENPNSLQDQS
HALLKYWLER DGKHATDTNL VECLTKINRM DIVHLMETNT EPLQERISHS YAEIEQTITL
DHSEGFSVLQ EELCTAQHKQ KEEQAVSKES ETCDHPPIVS EEDISVGYST FQDGVPKTEG
DSSATALFPQ NHKEQVQQDF SGKMQDLPEE SSLEYQQEYF VTTPGTETSE TQKAMIVPSS
PSKTPEEVST PAEEEKLYLQ TPTSSERGGS PIIQEPEEPS EHREESSPRK TSLVIVESAD
NQPETCERLD EDAAFEKELT EELGELEASS DEEAMVTTRV VRRRVIIQGD DMPEIPPETV
TEEEYIDEHG HTVVKKVTRK IIRRYVSSEG TEKEEIMVQG MPQEPVNIEE GDGYSKVIKR
VVLKSDTEQS EDNNE*

speed

0.53 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