MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000261405
MT speed 1.11 s - this script 3.364238 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
VWF	polymorphism_automatic	1.35196251980219e-05	simple_aae		affected		T789A	single base exchange	rs1063856		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999986480374802 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM093840)
known disease mutation at this position (HGMD CM107283)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:6153534T>CN/A show variant in all transcripts IGV

HGNC symbol

VWF

Ensembl transcript ID

ENST00000261405

Genbank transcript ID

NM_000552

UniProt peptide

P04275

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2365A>G
cDNA.2620A>G
g.80403A>G

AA changes

T789A Score: 58 explain score(s)

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

789

frameshift

known variant

Reference ID: rs1063856

database	homozygous (C/C)	heterozygous	allele carriers
1000G	406	872	1278
ExAC	7168	18431	25599

known disease mutation at this position, please check HGMD for details (HGMD ID CM093840)

known disease mutation at this position, please check HGMD for details (HGMD ID CM093840)
known disease mutation at this position, please check HGMD for details (HGMD ID CM107283)

known disease mutation at this position, please check HGMD for details (HGMD ID CM093840)
known disease mutation at this position, please check HGMD for details (HGMD ID CM107283)
known disease mutation at this position, please check HGMD for details (HGMD ID CM107283)

regulatory features

Cfos, Transcription Factor, Cfos TF binding
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
Ap2gamma, Transcription Factor, Ap2gamma Transcription Factor Binding
Ap2alpha, Transcription Factor, Ap2alpha Transcription Factor Binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.83	1
	0.632	0.997
(flanking)	0.07	0.995

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 gained	80402	0.71	mu: GAGTGTGCCAAAACG	GTGT\|gcca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

789

mutated

not conserved

789

Ptroglodytes

not conserved

ENSPTRG00000004566

789

Mmulatta

not conserved

ENSMMUG00000022893

789

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000001930

792

Ggallus

not conserved

ENSGALG00000017272

786

Trubripes

not conserved

ENSTRUG00000001878

791

Drerio

not conserved

ENSDARG00000077231

780

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000023591

771

protein features

start (aa)	end (aa)	feature	details
776	827	DOMAIN	TIL 3.	lost
788	833	REGION	E1.	lost
804	804	CONFLICT	C -> S (in Ref. 8; AA sequence and 9; AAB59512).	might get lost (downstream of altered splice site)
804	804	DISULFID		might get lost (downstream of altered splice site)
808	808	DISULFID		might get lost (downstream of altered splice site)
810	810	DISULFID		might get lost (downstream of altered splice site)
821	821	DISULFID		might get lost (downstream of altered splice site)
826	853	REGION	CX.	might get lost (downstream of altered splice site)
857	857	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
866	1074	DOMAIN	VWFD 3.	might get lost (downstream of altered splice site)
867	867	DISULFID		might get lost (downstream of altered splice site)
889	889	DISULFID		might get lost (downstream of altered splice site)
898	898	DISULFID		might get lost (downstream of altered splice site)
914	914	DISULFID		might get lost (downstream of altered splice site)
921	921	DISULFID		might get lost (downstream of altered splice site)
993	993	DISULFID		might get lost (downstream of altered splice site)
996	996	DISULFID		might get lost (downstream of altered splice site)
1031	1031	DISULFID		might get lost (downstream of altered splice site)
1060	1060	DISULFID		might get lost (downstream of altered splice site)
1071	1071	DISULFID		might get lost (downstream of altered splice site)
1084	1084	DISULFID		might get lost (downstream of altered splice site)
1089	1089	DISULFID		might get lost (downstream of altered splice site)
1091	1091	DISULFID		might get lost (downstream of altered splice site)
1111	1111	DISULFID		might get lost (downstream of altered splice site)
1126	1126	DISULFID		might get lost (downstream of altered splice site)
1130	1130	DISULFID		might get lost (downstream of altered splice site)
1146	1196	DOMAIN	TIL 4.	might get lost (downstream of altered splice site)
1147	1147	CARBOHYD	N-linked (GlcNAc...); atypical.	might get lost (downstream of altered splice site)
1149	1149	MUTAGEN	C->R: Reduced secretion and increased intracellular retention. Similar phenotype; when associated with S-1169.	might get lost (downstream of altered splice site)
1149	1149	DISULFID		might get lost (downstream of altered splice site)
1153	1153	DISULFID		might get lost (downstream of altered splice site)
1165	1165	DISULFID		might get lost (downstream of altered splice site)
1169	1169	DISULFID		might get lost (downstream of altered splice site)
1169	1169	MUTAGEN	C->S: Reduced secretion and increased intracellular retention. Similar phenotype; when associated with R-1149.	might get lost (downstream of altered splice site)
1196	1196	DISULFID		might get lost (downstream of altered splice site)
1199	1199	DISULFID		might get lost (downstream of altered splice site)
1231	1231	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
1234	1234	DISULFID		might get lost (downstream of altered splice site)
1237	1237	DISULFID		might get lost (downstream of altered splice site)
1248	1248	CARBOHYD	O-linked (GalNAc...) (Probable).	might get lost (downstream of altered splice site)
1255	1255	CARBOHYD	O-linked (GalNAc...) (Probable).	might get lost (downstream of altered splice site)
1256	1256	CARBOHYD	O-linked (GalNAc...) (Probable).	might get lost (downstream of altered splice site)
1263	1263	CARBOHYD	O-linked (GalNAc...) (Probable).	might get lost (downstream of altered splice site)
1267	1269	STRAND		might get lost (downstream of altered splice site)
1272	1272	DISULFID		might get lost (downstream of altered splice site)
1276	1283	STRAND		might get lost (downstream of altered splice site)
1277	1453	DOMAIN	VWFA 1; binding site for platelet glycoprotein Ib.	might get lost (downstream of altered splice site)
1290	1305	HELIX		might get lost (downstream of altered splice site)
1307	1310	TURN		might get lost (downstream of altered splice site)
1313	1329	STRAND		might get lost (downstream of altered splice site)
1337	1345	HELIX		might get lost (downstream of altered splice site)
1357	1367	HELIX		might get lost (downstream of altered splice site)
1369	1371	STRAND		might get lost (downstream of altered splice site)
1377	1385	STRAND		might get lost (downstream of altered splice site)
1391	1393	HELIX		might get lost (downstream of altered splice site)
1394	1396	HELIX		might get lost (downstream of altered splice site)
1397	1406	HELIX		might get lost (downstream of altered splice site)
1409	1417	STRAND		might get lost (downstream of altered splice site)
1422	1431	HELIX		might get lost (downstream of altered splice site)
1432	1434	STRAND		might get lost (downstream of altered splice site)
1438	1442	STRAND		might get lost (downstream of altered splice site)
1443	1445	HELIX		might get lost (downstream of altered splice site)
1446	1460	HELIX		might get lost (downstream of altered splice site)
1458	1458	DISULFID		might get lost (downstream of altered splice site)
1468	1468	CARBOHYD	O-linked (GalNAc...) (Probable).	might get lost (downstream of altered splice site)
1477	1477	CARBOHYD	O-linked (GalNAc...) (Probable).	might get lost (downstream of altered splice site)
1486	1486	CARBOHYD	O-linked (GalNAc...) (Probable).	might get lost (downstream of altered splice site)
1487	1487	CARBOHYD	O-linked (GalNAc...) (Probable).	might get lost (downstream of altered splice site)
1498	1504	STRAND		might get lost (downstream of altered splice site)
1498	1665	DOMAIN	VWFA 2.	might get lost (downstream of altered splice site)
1507	1509	TURN		might get lost (downstream of altered splice site)
1511	1527	HELIX		might get lost (downstream of altered splice site)
1515	1515	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
1534	1550	STRAND		might get lost (downstream of altered splice site)
1558	1567	HELIX		might get lost (downstream of altered splice site)
1574	1574	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
1578	1587	HELIX		might get lost (downstream of altered splice site)
1588	1590	TURN		might get lost (downstream of altered splice site)
1592	1594	HELIX		might get lost (downstream of altered splice site)
1595	1599	HELIX		might get lost (downstream of altered splice site)
1602	1608	STRAND		might get lost (downstream of altered splice site)
1623	1631	STRAND		might get lost (downstream of altered splice site)
1636	1643	HELIX		might get lost (downstream of altered splice site)
1649	1652	STRAND		might get lost (downstream of altered splice site)
1654	1656	TURN		might get lost (downstream of altered splice site)
1657	1670	HELIX		might get lost (downstream of altered splice site)
1669	1669	DISULFID		might get lost (downstream of altered splice site)
1670	1670	DISULFID		might get lost (downstream of altered splice site)
1679	1679	CARBOHYD	O-linked (GalNAc...) (Probable).	might get lost (downstream of altered splice site)
1686	1686	DISULFID		might get lost (downstream of altered splice site)
1690	1697	STRAND		might get lost (downstream of altered splice site)
1691	1871	DOMAIN	VWFA 3; main binding site for collagens type I and III.	might get lost (downstream of altered splice site)
1699	1702	STRAND		might get lost (downstream of altered splice site)
1704	1720	HELIX		might get lost (downstream of altered splice site)
1720	1720	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).	might get lost (downstream of altered splice site)
1727	1743	STRAND		might get lost (downstream of altered splice site)
1745	1747	STRAND		might get lost (downstream of altered splice site)
1751	1759	HELIX		might get lost (downstream of altered splice site)
1770	1782	HELIX		might get lost (downstream of altered splice site)
1784	1786	HELIX		might get lost (downstream of altered splice site)
1792	1800	STRAND		might get lost (downstream of altered splice site)
1809	1817	HELIX		might get lost (downstream of altered splice site)
1820	1831	STRAND		might get lost (downstream of altered splice site)
1833	1839	HELIX		might get lost (downstream of altered splice site)
1841	1847	HELIX		might get lost (downstream of altered splice site)
1849	1853	STRAND		might get lost (downstream of altered splice site)
1856	1862	HELIX		might get lost (downstream of altered splice site)
1863	1865	STRAND		might get lost (downstream of altered splice site)
1866	1870	HELIX		might get lost (downstream of altered splice site)
1872	1872	DISULFID		might get lost (downstream of altered splice site)
1879	1879	DISULFID		might get lost (downstream of altered splice site)
1899	1899	DISULFID	Or C-1899 with C-1942.	might get lost (downstream of altered splice site)
1904	1904	DISULFID		might get lost (downstream of altered splice site)
1914	1914	CONFLICT	S -> T (in Ref. 1; CAA27972).	might get lost (downstream of altered splice site)
1927	1927	DISULFID		might get lost (downstream of altered splice site)
1940	1940	DISULFID	Or C-1899 with C-1942.	might get lost (downstream of altered splice site)
1949	2153	DOMAIN	VWFD 4.	might get lost (downstream of altered splice site)
1950	1950	DISULFID		might get lost (downstream of altered splice site)
1972	1972	DISULFID		might get lost (downstream of altered splice site)
1993	1993	DISULFID		might get lost (downstream of altered splice site)
2001	2001	DISULFID		might get lost (downstream of altered splice site)
2085	2085	DISULFID		might get lost (downstream of altered splice site)
2088	2088	DISULFID		might get lost (downstream of altered splice site)
2123	2123	DISULFID		might get lost (downstream of altered splice site)
2168	2168	CONFLICT	C -> S (in Ref. 8; AA sequence).	might get lost (downstream of altered splice site)
2216	2261	REGION	E2.	might get lost (downstream of altered splice site)
2223	2223	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
2255	2328	DOMAIN	VWFC 1.	might get lost (downstream of altered splice site)
2290	2290	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
2298	2298	CARBOHYD	O-linked (GalNAc...) (Probable).	might get lost (downstream of altered splice site)
2357	2357	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
2400	2400	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
2429	2495	DOMAIN	VWFC 2.	might get lost (downstream of altered splice site)
2507	2509	MOTIF	Cell attachment site.	might get lost (downstream of altered splice site)
2546	2546	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
2580	2645	DOMAIN	VWFC 3.	might get lost (downstream of altered splice site)
2585	2585	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
2724	2724	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2724	2812	DOMAIN	CTCK.	might get lost (downstream of altered splice site)
2739	2739	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2750	2750	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2754	2754	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2774	2774	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2788	2788	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2790	2790	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
2804	2804	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2806	2806	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2811	2811	DISULFID	By similarity.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

8442 / 8442

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

2814 / 2814

position of stopcodon in wt / mu cDNA

8697 / 8697

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

256 / 256

chromosome

strand

-1

last intron/exon boundary

8509

theoretical NMD boundary in CDS

8203

length of CDS

8442

coding sequence (CDS) position

2365

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

2620

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

80403

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

6153534

original gDNA sequence snippet

GGGCTGAAGGGCTCGAGTGTACCAAAACGTGCCAGAACTAT

altered gDNA sequence snippet

GGGCTGAAGGGCTCGAGTGTGCCAAAACGTGCCAGAACTAT

original cDNA sequence snippet

GGGCTGAAGGGCTCGAGTGTACCAAAACGTGCCAGAACTAT

altered cDNA sequence snippet

GGGCTGAAGGGCTCGAGTGTGCCAAAACGTGCCAGAACTAT

wildtype AA sequence

MIPARFAGVL LALALILPGT LCAEGTRGRS STARCSLFGS DFVNTFDGSM YSFAGYCSYL
LAGGCQKRSF SIIGDFQNGK RVSLSVYLGE FFDIHLFVNG TVTQGDQRVS MPYASKGLYL
ETEAGYYKLS GEAYGFVARI DGSGNFQVLL SDRYFNKTCG LCGNFNIFAE DDFMTQEGTL
TSDPYDFANS WALSSGEQWC ERASPPSSSC NISSGEMQKG LWEQCQLLKS TSVFARCHPL
VDPEPFVALC EKTLCECAGG LECACPALLE YARTCAQEGM VLYGWTDHSA CSPVCPAGME
YRQCVSPCAR TCQSLHINEM CQERCVDGCS CPEGQLLDEG LCVESTECPC VHSGKRYPPG
TSLSRDCNTC ICRNSQWICS NEECPGECLV TGQSHFKSFD NRYFTFSGIC QYLLARDCQD
HSFSIVIETV QCADDRDAVC TRSVTVRLPG LHNSLVKLKH GAGVAMDGQD VQLPLLKGDL
RIQHTVTASV RLSYGEDLQM DWDGRGRLLV KLSPVYAGKT CGLCGNYNGN QGDDFLTPSG
LAEPRVEDFG NAWKLHGDCQ DLQKQHSDPC ALNPRMTRFS EEACAVLTSP TFEACHRAVS
PLPYLRNCRY DVCSCSDGRE CLCGALASYA AACAGRGVRV AWREPGRCEL NCPKGQVYLQ
CGTPCNLTCR SLSYPDEECN EACLEGCFCP PGLYMDERGD CVPKAQCPCY YDGEIFQPED
IFSDHHTMCY CEDGFMHCTM SGVPGSLLPD AVLSSPLSHR SKRSLSCRPP MVKLVCPADN
LRAEGLECTK TCQNYDLECM SMGCVSGCLC PPGMVRHENR CVALERCPCF HQGKEYAPGE
TVKIGCNTCV CQDRKWNCTD HVCDATCSTI GMAHYLTFDG LKYLFPGECQ YVLVQDYCGS
NPGTFRILVG NKGCSHPSVK CKKRVTILVE GGEIELFDGE VNVKRPMKDE THFEVVESGR
YIILLLGKAL SVVWDRHLSI SVVLKQTYQE KVCGLCGNFD GIQNNDLTSS NLQVEEDPVD
FGNSWKVSSQ CADTRKVPLD SSPATCHNNI MKQTMVDSSC RILTSDVFQD CNKLVDPEPY
LDVCIYDTCS CESIGDCACF CDTIAAYAHV CAQHGKVVTW RTATLCPQSC EERNLRENGY
ECEWRYNSCA PACQVTCQHP EPLACPVQCV EGCHAHCPPG KILDELLQTC VDPEDCPVCE
VAGRRFASGK KVTLNPSDPE HCQICHCDVV NLTCEACQEP GGLVVPPTDA PVSPTTLYVE
DISEPPLHDF YCSRLLDLVF LLDGSSRLSE AEFEVLKAFV VDMMERLRIS QKWVRVAVVE
YHDGSHAYIG LKDRKRPSEL RRIASQVKYA GSQVASTSEV LKYTLFQIFS KIDRPEASRI
TLLLMASQEP QRMSRNFVRY VQGLKKKKVI VIPVGIGPHA NLKQIRLIEK QAPENKAFVL
SSVDELEQQR DEIVSYLCDL APEAPPPTLP PDMAQVTVGP GLLGVSTLGP KRNSMVLDVA
FVLEGSDKIG EADFNRSKEF MEEVIQRMDV GQDSIHVTVL QYSYMVTVEY PFSEAQSKGD
ILQRVREIRY QGGNRTNTGL ALRYLSDHSF LVSQGDREQA PNLVYMVTGN PASDEIKRLP
GDIQVVPIGV GPNANVQELE RIGWPNAPIL IQDFETLPRE APDLVLQRCC SGEGLQIPTL
SPAPDCSQPL DVILLLDGSS SFPASYFDEM KSFAKAFISK ANIGPRLTQV SVLQYGSITT
IDVPWNVVPE KAHLLSLVDV MQREGGPSQI GDALGFAVRY LTSEMHGARP GASKAVVILV
TDVSVDSVDA AADAARSNRV TVFPIGIGDR YDAAQLRILA GPAGDSNVVK LQRIEDLPTM
VTLGNSFLHK LCSGFVRICM DEDGNEKRPG DVWTLPDQCH TVTCQPDGQT LLKSHRVNCD
RGLRPSCPNS QSPVKVEETC GCRWTCPCVC TGSSTRHIVT FDGQNFKLTG SCSYVLFQNK
EQDLEVILHN GACSPGARQG CMKSIEVKHS ALSVELHSDM EVTVNGRLVS VPYVGGNMEV
NVYGAIMHEV RFNHLGHIFT FTPQNNEFQL QLSPKTFASK TYGLCGICDE NGANDFMLRD
GTVTTDWKTL VQEWTVQRPG QTCQPILEEQ CLVPDSSHCQ VLLLPLFAEC HKVLAPATFY
AICQQDSCHQ EQVCEVIASY AHLCRTNGVC VDWRTPDFCA MSCPPSLVYN HCEHGCPRHC
DGNVSSCGDH PSEGCFCPPD KVMLEGSCVP EEACTQCIGE DGVQHQFLEA WVPDHQPCQI
CTCLSGRKVN CTTQPCPTAK APTCGLCEVA RLRQNADQCC PEYECVCDPV SCDLPPVPHC
ERGLQPTLTN PGECRPNFTC ACRKEECKRV SPPSCPPHRL PTLRKTQCCD EYECACNCVN
STVSCPLGYL ASTATNDCGC TTTTCLPDKV CVHRSTIYPV GQFWEEGCDV CTCTDMEDAV
MGLRVAQCSQ KPCEDSCRSG FTYVLHEGEC CGRCLPSACE VVTGSPRGDS QSSWKSVGSQ
WASPENPCLI NECVRVKEEV FIQQRNVSCP QLEVPVCPSG FQLSCKTSAC CPSCRCERME
ACMLNGTVIG PGKTVMIDVC TTCRCMVQVG VISGFKLECR KTTCNPCPLG YKEENNTGEC
CGRCLPTACT IQLRGGQIMT LKRDETLQDG CDTHFCKVNE RGEYFWEKRV TGCPPFDEHK
CLAEGGKIMK IPGTCCDTCE EPECNDITAR LQYVKVGSCK SEVEVDIHYC QGKCASKAMY
SIDINDVQDQ CSCCSPTRTE PMQVALHCTN GSVVYHEVLN AMECKCSPRK CSK*

mutated AA sequence

MIPARFAGVL LALALILPGT LCAEGTRGRS STARCSLFGS DFVNTFDGSM YSFAGYCSYL
LAGGCQKRSF SIIGDFQNGK RVSLSVYLGE FFDIHLFVNG TVTQGDQRVS MPYASKGLYL
ETEAGYYKLS GEAYGFVARI DGSGNFQVLL SDRYFNKTCG LCGNFNIFAE DDFMTQEGTL
TSDPYDFANS WALSSGEQWC ERASPPSSSC NISSGEMQKG LWEQCQLLKS TSVFARCHPL
VDPEPFVALC EKTLCECAGG LECACPALLE YARTCAQEGM VLYGWTDHSA CSPVCPAGME
YRQCVSPCAR TCQSLHINEM CQERCVDGCS CPEGQLLDEG LCVESTECPC VHSGKRYPPG
TSLSRDCNTC ICRNSQWICS NEECPGECLV TGQSHFKSFD NRYFTFSGIC QYLLARDCQD
HSFSIVIETV QCADDRDAVC TRSVTVRLPG LHNSLVKLKH GAGVAMDGQD VQLPLLKGDL
RIQHTVTASV RLSYGEDLQM DWDGRGRLLV KLSPVYAGKT CGLCGNYNGN QGDDFLTPSG
LAEPRVEDFG NAWKLHGDCQ DLQKQHSDPC ALNPRMTRFS EEACAVLTSP TFEACHRAVS
PLPYLRNCRY DVCSCSDGRE CLCGALASYA AACAGRGVRV AWREPGRCEL NCPKGQVYLQ
CGTPCNLTCR SLSYPDEECN EACLEGCFCP PGLYMDERGD CVPKAQCPCY YDGEIFQPED
IFSDHHTMCY CEDGFMHCTM SGVPGSLLPD AVLSSPLSHR SKRSLSCRPP MVKLVCPADN
LRAEGLECAK TCQNYDLECM SMGCVSGCLC PPGMVRHENR CVALERCPCF HQGKEYAPGE
TVKIGCNTCV CQDRKWNCTD HVCDATCSTI GMAHYLTFDG LKYLFPGECQ YVLVQDYCGS
NPGTFRILVG NKGCSHPSVK CKKRVTILVE GGEIELFDGE VNVKRPMKDE THFEVVESGR
YIILLLGKAL SVVWDRHLSI SVVLKQTYQE KVCGLCGNFD GIQNNDLTSS NLQVEEDPVD
FGNSWKVSSQ CADTRKVPLD SSPATCHNNI MKQTMVDSSC RILTSDVFQD CNKLVDPEPY
LDVCIYDTCS CESIGDCACF CDTIAAYAHV CAQHGKVVTW RTATLCPQSC EERNLRENGY
ECEWRYNSCA PACQVTCQHP EPLACPVQCV EGCHAHCPPG KILDELLQTC VDPEDCPVCE
VAGRRFASGK KVTLNPSDPE HCQICHCDVV NLTCEACQEP GGLVVPPTDA PVSPTTLYVE
DISEPPLHDF YCSRLLDLVF LLDGSSRLSE AEFEVLKAFV VDMMERLRIS QKWVRVAVVE
YHDGSHAYIG LKDRKRPSEL RRIASQVKYA GSQVASTSEV LKYTLFQIFS KIDRPEASRI
TLLLMASQEP QRMSRNFVRY VQGLKKKKVI VIPVGIGPHA NLKQIRLIEK QAPENKAFVL
SSVDELEQQR DEIVSYLCDL APEAPPPTLP PDMAQVTVGP GLLGVSTLGP KRNSMVLDVA
FVLEGSDKIG EADFNRSKEF MEEVIQRMDV GQDSIHVTVL QYSYMVTVEY PFSEAQSKGD
ILQRVREIRY QGGNRTNTGL ALRYLSDHSF LVSQGDREQA PNLVYMVTGN PASDEIKRLP
GDIQVVPIGV GPNANVQELE RIGWPNAPIL IQDFETLPRE APDLVLQRCC SGEGLQIPTL
SPAPDCSQPL DVILLLDGSS SFPASYFDEM KSFAKAFISK ANIGPRLTQV SVLQYGSITT
IDVPWNVVPE KAHLLSLVDV MQREGGPSQI GDALGFAVRY LTSEMHGARP GASKAVVILV
TDVSVDSVDA AADAARSNRV TVFPIGIGDR YDAAQLRILA GPAGDSNVVK LQRIEDLPTM
VTLGNSFLHK LCSGFVRICM DEDGNEKRPG DVWTLPDQCH TVTCQPDGQT LLKSHRVNCD
RGLRPSCPNS QSPVKVEETC GCRWTCPCVC TGSSTRHIVT FDGQNFKLTG SCSYVLFQNK
EQDLEVILHN GACSPGARQG CMKSIEVKHS ALSVELHSDM EVTVNGRLVS VPYVGGNMEV
NVYGAIMHEV RFNHLGHIFT FTPQNNEFQL QLSPKTFASK TYGLCGICDE NGANDFMLRD
GTVTTDWKTL VQEWTVQRPG QTCQPILEEQ CLVPDSSHCQ VLLLPLFAEC HKVLAPATFY
AICQQDSCHQ EQVCEVIASY AHLCRTNGVC VDWRTPDFCA MSCPPSLVYN HCEHGCPRHC
DGNVSSCGDH PSEGCFCPPD KVMLEGSCVP EEACTQCIGE DGVQHQFLEA WVPDHQPCQI
CTCLSGRKVN CTTQPCPTAK APTCGLCEVA RLRQNADQCC PEYECVCDPV SCDLPPVPHC
ERGLQPTLTN PGECRPNFTC ACRKEECKRV SPPSCPPHRL PTLRKTQCCD EYECACNCVN
STVSCPLGYL ASTATNDCGC TTTTCLPDKV CVHRSTIYPV GQFWEEGCDV CTCTDMEDAV
MGLRVAQCSQ KPCEDSCRSG FTYVLHEGEC CGRCLPSACE VVTGSPRGDS QSSWKSVGSQ
WASPENPCLI NECVRVKEEV FIQQRNVSCP QLEVPVCPSG FQLSCKTSAC CPSCRCERME
ACMLNGTVIG PGKTVMIDVC TTCRCMVQVG VISGFKLECR KTTCNPCPLG YKEENNTGEC
CGRCLPTACT IQLRGGQIMT LKRDETLQDG CDTHFCKVNE RGEYFWEKRV TGCPPFDEHK
CLAEGGKIMK IPGTCCDTCE EPECNDITAR LQYVKVGSCK SEVEVDIHYC QGKCASKAMY
SIDINDVQDQ CSCCSPTRTE PMQVALHCTN GSVVYHEVLN AMECKCSPRK CSK*

speed

1.11 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
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MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

Problems