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 2 transcript(s)...
Querying Taster for transcript #1: ENST00000367797
Querying Taster for transcript #2: ENST00000367796
MT speed 0 s - this script 4.397894 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
F5	disease_causing	0.999999952345063	simple_aae		affected		R2102C	single base exchange	rs118203910		show file
F5	disease_causing	0.999999989478013	simple_aae		affected		R2107C	single base exchange	rs118203910		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999952345063 (explain)

Summary

amino acid sequence changed
known as potential disease variant: rs654 (probable pathogenic)
known disease mutation at this position (HGMD CM030037)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:169487691G>AN/A show variant in all transcripts IGV

HGNC symbol

Ensembl transcript ID

ENST00000367797

Genbank transcript ID

NM_000130

UniProt peptide

P12259

alteration type

single base exchange

alteration region

CDS

DNA changes

c.6304C>T
cDNA.6506C>T
g.68136C>T

AA changes

R2102C Score: 180 explain score(s)

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

2102

frameshift

known variant

Reference ID: rs118203910

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

known as potential disease variant: rs654 (probable pathogenic for Factor V deficiency) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM030037)

known disease mutation at this position, please check HGMD for details (HGMD ID CM030037)
known disease mutation at this position, please check HGMD for details (HGMD ID CM030037)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.864	1
	3.276	1
(flanking)	0.243	0.992

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
Acc increased	68134	wt: 0.20 / mu: 0.43	wt: TTACTGGGAACCCTTCCGTGCCCGTCTGAATGCCCAGGGAC mu: TTACTGGGAACCCTTCCGTGCCTGTCTGAATGCCCAGGGAC	gtgc\|CCGT
Acc marginally increased	68142	wt: 0.4644 / mu: 0.5483 (marginal change - not scored)	wt: AACCCTTCCGTGCCCGTCTGAATGCCCAGGGACGTGTGAAT mu: AACCCTTCCGTGCCTGTCTGAATGCCCAGGGACGTGTGAAT	ctga\|ATGC
Acc increased	68141	wt: 0.22 / mu: 0.26	wt: GAACCCTTCCGTGCCCGTCTGAATGCCCAGGGACGTGTGAA mu: GAACCCTTCCGTGCCTGTCTGAATGCCCAGGGACGTGTGAA	tctg\|AATG
Acc marginally increased	68144	wt: 0.8120 / mu: 0.8821 (marginal change - not scored)	wt: CCCTTCCGTGCCCGTCTGAATGCCCAGGGACGTGTGAATGC mu: CCCTTCCGTGCCTGTCTGAATGCCCAGGGACGTGTGAATGC	gaat\|GCCC
Acc marginally increased	68140	wt: 0.9065 / mu: 0.9203 (marginal change - not scored)	wt: GGAACCCTTCCGTGCCCGTCTGAATGCCCAGGGACGTGTGA mu: GGAACCCTTCCGTGCCTGTCTGAATGCCCAGGGACGTGTGA	gtct\|GAAT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

2102

mutated

not conserved

2102

Ptroglodytes

all identical

ENSPTRG00000001659

1904

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000026579

2061

Ggallus

all identical

ENSGALG00000015207

1338

Trubripes

all identical

ENSTRUG00000014416

1754

Drerio

all identical

ENSDARG00000055705

1979

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000002423

2041

protein features

start (aa)	end (aa)	feature	details
2066	2221	DOMAIN	F5/8 type C 2.	lost
2107	2109	STRAND		might get lost (downstream of altered splice site)
2111	2113	STRAND		might get lost (downstream of altered splice site)
2123	2139	STRAND		might get lost (downstream of altered splice site)
2141	2143	STRAND		might get lost (downstream of altered splice site)
2146	2163	STRAND		might get lost (downstream of altered splice site)
2182	2185	STRAND		might get lost (downstream of altered splice site)
2188	2211	STRAND		might get lost (downstream of altered splice site)
2209	2209	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
2213	2213	CONFLICT	A -> T (in Ref. 1; AAA52424).	might get lost (downstream of altered splice site)
2213	2222	STRAND		might get lost (downstream of altered splice site)
2221	2221	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

6675 / 6675

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

2225 / 2225

position of stopcodon in wt / mu cDNA

6877 / 6877

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

203 / 203

chromosome

strand

-1

last intron/exon boundary

6731

theoretical NMD boundary in CDS

6478

length of CDS

6675

coding sequence (CDS) position

6304

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

6506

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

68136

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

169487691

original gDNA sequence snippet

ACTGGGAACCCTTCCGTGCCCGTCTGAATGCCCAGGGACGT

altered gDNA sequence snippet

ACTGGGAACCCTTCCGTGCCTGTCTGAATGCCCAGGGACGT

original cDNA sequence snippet

ACTGGGAACCCTTCCGTGCCCGTCTGAATGCCCAGGGACGT

altered cDNA sequence snippet

ACTGGGAACCCTTCCGTGCCTGTCTGAATGCCCAGGGACGT

wildtype AA sequence

MFPGCPRLWV LVVLGTSWVG WGSQGTEAAQ LRQFYVAAQG ISWSYRPEPT NSSLNLSVTS
FKKIVYREYE PYFKKEKPQS TISGLLGPTL YAEVGDIIKV HFKNKADKPL SIHPQGIRYS
KLSEGASYLD HTFPAEKMDD AVAPGREYTY EWSISEDSGP THDDPPCLTH IYYSHENLIE
DFNSGLIGPL LICKKGTLTE GGTQKTFDKQ IVLLFAVFDE SKSWSQSSSL MYTVNGYVNG
TMPDITVCAH DHISWHLLGM SSGPELFSIH FNGQVLEQNH HKVSAITLVS ATSTTANMTV
GPEGKWIISS LTPKHLQAGM QAYIDIKNCP KKTRNLKKIT REQRRHMKRW EYFIAAEEVI
WDYAPVIPAN MDKKYRSQHL DNFSNQIGKH YKKVMYTQYE DESFTKHTVN PNMKEDGILG
PIIRAQVRDT LKIVFKNMAS RPYSIYPHGV TFSPYEDEVN SSFTSGRNNT MIRAVQPGET
YTYKWNILEF DEPTENDAQC LTRPYYSDVD IMRDIASGLI GLLLICKSRS LDRQGIQRAA
DIEQQAVFAV FDENKSWYLE DNINKFCENP DEVKRDDPKF YESNIMSTIN GYVPESITTL
GFCFDDTVQW HFCSVGTQNE ILTIHFTGHS FIYGKRHEDT LTLFPMRGES VTVTMDNVGT
WMLTSMNSSP RSKKLRLKFR DVKCIPDDDE DSYEIFEPPE STVMATRKMH DRLEPEDEES
DADYDYQNRL AAALGIRSFR NSSLNQEEEE FNLTALALEN GTEFVSSNTD IIVGSNYSSP
SNISKFTVNN LAEPQKAPSH QQATTAGSPL RHLIGKNSVL NSSTAEHSSP YSEDPIEDPL
QPDVTGIRLL SLGAGEFKSQ EHAKHKGPKV ERDQAAKHRF SWMKLLAHKV GRHLSQDTGS
PSGMRPWEDL PSQDTGSPSR MRPWKDPPSD LLLLKQSNSS KILVGRWHLA SEKGSYEIIQ
DTDEDTAVNN WLISPQNASR AWGESTPLAN KPGKQSGHPK FPRVRHKSLQ VRQDGGKSRL
KKSQFLIKTR KKKKEKHTHH APLSPRTFHP LRSEAYNTFS ERRLKHSLVL HKSNETSLPT
DLNQTLPSMD FGWIASLPDH NQNSSNDTGQ ASCPPGLYQT VPPEEHYQTF PIQDPDQMHS
TSDPSHRSSS PELSEMLEYD RSHKSFPTDI SQMSPSSEHE VWQTVISPDL SQVTLSPELS
QTNLSPDLSH TTLSPELIQR NLSPALGQMP ISPDLSHTTL SPDLSHTTLS LDLSQTNLSP
ELSQTNLSPA LGQMPLSPDL SHTTLSLDFS QTNLSPELSH MTLSPELSQT NLSPALGQMP
ISPDLSHTTL SLDFSQTNLS PELSQTNLSP ALGQMPLSPD PSHTTLSLDL SQTNLSPELS
QTNLSPDLSE MPLFADLSQI PLTPDLDQMT LSPDLGETDL SPNFGQMSLS PDLSQVTLSP
DISDTTLLPD LSQISPPPDL DQIFYPSESS QSLLLQEFNE SFPYPDLGQM PSPSSPTLND
TFLSKEFNPL VIVGLSKDGT DYIEIIPKEE VQSSEDDYAE IDYVPYDDPY KTDVRTNINS
SRDPDNIAAW YLRSNNGNRR NYYIAAEEIS WDYSEFVQRE TDIEDSDDIP EDTTYKKVVF
RKYLDSTFTK RDPRGEYEEH LGILGPIIRA EVDDVIQVRF KNLASRPYSL HAHGLSYEKS
SEGKTYEDDS PEWFKEDNAV QPNSSYTYVW HATERSGPES PGSACRAWAY YSAVNPEKDI
HSGLIGPLLI CQKGILHKDS NMPMDMREFV LLFMTFDEKK SWYYEKKSRS SWRLTSSEMK
KSHEFHAING MIYSLPGLKM YEQEWVRLHL LNIGGSQDIH VVHFHGQTLL ENGNKQHQLG
VWPLLPGSFK TLEMKASKPG WWLLNTEVGE NQRAGMQTPF LIMDRDCRMP MGLSTGIISD
SQIKASEFLG YWEPRLARLN NGGSYNAWSV EKLAAEFASK PWIQVDMQKE VIITGIQTQG
AKHYLKSCYT TEFYVAYSSN QINWQIFKGN STRNVMYFNG NSDASTIKEN QFDPPIVARY
IRISPTRAYN RPTLRLELQG CEVNGCSTPL GMENGKIENK QITASSFKKS WWGDYWEPFR
ARLNAQGRVN AWQAKANNNK QWLEIDLLKI KKITAIITQG CKSLSSEMYV KSYTIHYSEQ
GVEWKPYRLK SSMVDKIFEG NTNTKGHVKN FFNPPIISRF IRVIPKTWNQ SIALRLELFG
CDIY*

mutated AA sequence

MFPGCPRLWV LVVLGTSWVG WGSQGTEAAQ LRQFYVAAQG ISWSYRPEPT NSSLNLSVTS
FKKIVYREYE PYFKKEKPQS TISGLLGPTL YAEVGDIIKV HFKNKADKPL SIHPQGIRYS
KLSEGASYLD HTFPAEKMDD AVAPGREYTY EWSISEDSGP THDDPPCLTH IYYSHENLIE
DFNSGLIGPL LICKKGTLTE GGTQKTFDKQ IVLLFAVFDE SKSWSQSSSL MYTVNGYVNG
TMPDITVCAH DHISWHLLGM SSGPELFSIH FNGQVLEQNH HKVSAITLVS ATSTTANMTV
GPEGKWIISS LTPKHLQAGM QAYIDIKNCP KKTRNLKKIT REQRRHMKRW EYFIAAEEVI
WDYAPVIPAN MDKKYRSQHL DNFSNQIGKH YKKVMYTQYE DESFTKHTVN PNMKEDGILG
PIIRAQVRDT LKIVFKNMAS RPYSIYPHGV TFSPYEDEVN SSFTSGRNNT MIRAVQPGET
YTYKWNILEF DEPTENDAQC LTRPYYSDVD IMRDIASGLI GLLLICKSRS LDRQGIQRAA
DIEQQAVFAV FDENKSWYLE DNINKFCENP DEVKRDDPKF YESNIMSTIN GYVPESITTL
GFCFDDTVQW HFCSVGTQNE ILTIHFTGHS FIYGKRHEDT LTLFPMRGES VTVTMDNVGT
WMLTSMNSSP RSKKLRLKFR DVKCIPDDDE DSYEIFEPPE STVMATRKMH DRLEPEDEES
DADYDYQNRL AAALGIRSFR NSSLNQEEEE FNLTALALEN GTEFVSSNTD IIVGSNYSSP
SNISKFTVNN LAEPQKAPSH QQATTAGSPL RHLIGKNSVL NSSTAEHSSP YSEDPIEDPL
QPDVTGIRLL SLGAGEFKSQ EHAKHKGPKV ERDQAAKHRF SWMKLLAHKV GRHLSQDTGS
PSGMRPWEDL PSQDTGSPSR MRPWKDPPSD LLLLKQSNSS KILVGRWHLA SEKGSYEIIQ
DTDEDTAVNN WLISPQNASR AWGESTPLAN KPGKQSGHPK FPRVRHKSLQ VRQDGGKSRL
KKSQFLIKTR KKKKEKHTHH APLSPRTFHP LRSEAYNTFS ERRLKHSLVL HKSNETSLPT
DLNQTLPSMD FGWIASLPDH NQNSSNDTGQ ASCPPGLYQT VPPEEHYQTF PIQDPDQMHS
TSDPSHRSSS PELSEMLEYD RSHKSFPTDI SQMSPSSEHE VWQTVISPDL SQVTLSPELS
QTNLSPDLSH TTLSPELIQR NLSPALGQMP ISPDLSHTTL SPDLSHTTLS LDLSQTNLSP
ELSQTNLSPA LGQMPLSPDL SHTTLSLDFS QTNLSPELSH MTLSPELSQT NLSPALGQMP
ISPDLSHTTL SLDFSQTNLS PELSQTNLSP ALGQMPLSPD PSHTTLSLDL SQTNLSPELS
QTNLSPDLSE MPLFADLSQI PLTPDLDQMT LSPDLGETDL SPNFGQMSLS PDLSQVTLSP
DISDTTLLPD LSQISPPPDL DQIFYPSESS QSLLLQEFNE SFPYPDLGQM PSPSSPTLND
TFLSKEFNPL VIVGLSKDGT DYIEIIPKEE VQSSEDDYAE IDYVPYDDPY KTDVRTNINS
SRDPDNIAAW YLRSNNGNRR NYYIAAEEIS WDYSEFVQRE TDIEDSDDIP EDTTYKKVVF
RKYLDSTFTK RDPRGEYEEH LGILGPIIRA EVDDVIQVRF KNLASRPYSL HAHGLSYEKS
SEGKTYEDDS PEWFKEDNAV QPNSSYTYVW HATERSGPES PGSACRAWAY YSAVNPEKDI
HSGLIGPLLI CQKGILHKDS NMPMDMREFV LLFMTFDEKK SWYYEKKSRS SWRLTSSEMK
KSHEFHAING MIYSLPGLKM YEQEWVRLHL LNIGGSQDIH VVHFHGQTLL ENGNKQHQLG
VWPLLPGSFK TLEMKASKPG WWLLNTEVGE NQRAGMQTPF LIMDRDCRMP MGLSTGIISD
SQIKASEFLG YWEPRLARLN NGGSYNAWSV EKLAAEFASK PWIQVDMQKE VIITGIQTQG
AKHYLKSCYT TEFYVAYSSN QINWQIFKGN STRNVMYFNG NSDASTIKEN QFDPPIVARY
IRISPTRAYN RPTLRLELQG CEVNGCSTPL GMENGKIENK QITASSFKKS WWGDYWEPFR
ACLNAQGRVN AWQAKANNNK QWLEIDLLKI KKITAIITQG CKSLSSEMYV KSYTIHYSEQ
GVEWKPYRLK SSMVDKIFEG NTNTKGHVKN FFNPPIISRF IRVIPKTWNQ SIALRLELFG
CDIY*

speed

1.19 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: 0.999999989478013 (explain)

Summary

amino acid sequence changed
known as potential disease variant: rs654 (probable pathogenic)
known disease mutation at this position (HGMD CM030037)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:169487691G>AN/A show variant in all transcripts IGV

HGNC symbol

Ensembl transcript ID

ENST00000367796

Genbank transcript ID

N/A

UniProt peptide

P12259

alteration type

single base exchange

alteration region

CDS

DNA changes

c.6319C>T
cDNA.6521C>T
g.68136C>T

AA changes

R2107C Score: 180 explain score(s)

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

2107

frameshift

known variant

Reference ID: rs118203910

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.864	1
	3.276	1
(flanking)	0.243	0.992

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
Acc increased	68134	wt: 0.20 / mu: 0.43	wt: TTACTGGGAACCCTTCCGTGCCCGTCTGAATGCCCAGGGAC mu: TTACTGGGAACCCTTCCGTGCCTGTCTGAATGCCCAGGGAC	gtgc\|CCGT
Acc marginally increased	68142	wt: 0.4644 / mu: 0.5483 (marginal change - not scored)	wt: AACCCTTCCGTGCCCGTCTGAATGCCCAGGGACGTGTGAAT mu: AACCCTTCCGTGCCTGTCTGAATGCCCAGGGACGTGTGAAT	ctga\|ATGC
Acc increased	68141	wt: 0.22 / mu: 0.26	wt: GAACCCTTCCGTGCCCGTCTGAATGCCCAGGGACGTGTGAA mu: GAACCCTTCCGTGCCTGTCTGAATGCCCAGGGACGTGTGAA	tctg\|AATG
Acc marginally increased	68144	wt: 0.8120 / mu: 0.8821 (marginal change - not scored)	wt: CCCTTCCGTGCCCGTCTGAATGCCCAGGGACGTGTGAATGC mu: CCCTTCCGTGCCTGTCTGAATGCCCAGGGACGTGTGAATGC	gaat\|GCCC
Acc marginally increased	68140	wt: 0.9065 / mu: 0.9203 (marginal change - not scored)	wt: GGAACCCTTCCGTGCCCGTCTGAATGCCCAGGGACGTGTGA mu: GGAACCCTTCCGTGCCTGTCTGAATGCCCAGGGACGTGTGA	gtct\|GAAT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

2107

mutated

not conserved

2107

Ptroglodytes

all identical

ENSPTRG00000001659

1904

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000026579

2061

Ggallus

all identical

ENSGALG00000015207

1338

Trubripes

all identical

ENSTRUG00000014416

1754

Drerio

all identical

ENSDARG00000055705

1979

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000002423

2040

protein features

start (aa)	end (aa)	feature	details
2066	2221	DOMAIN	F5/8 type C 2.	lost
2107	2109	STRAND		lost
2111	2113	STRAND		might get lost (downstream of altered splice site)
2123	2139	STRAND		might get lost (downstream of altered splice site)
2141	2143	STRAND		might get lost (downstream of altered splice site)
2146	2163	STRAND		might get lost (downstream of altered splice site)
2182	2185	STRAND		might get lost (downstream of altered splice site)
2188	2211	STRAND		might get lost (downstream of altered splice site)
2209	2209	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
2213	2213	CONFLICT	A -> T (in Ref. 1; AAA52424).	might get lost (downstream of altered splice site)
2213	2222	STRAND		might get lost (downstream of altered splice site)
2221	2221	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

6690 / 6690

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

2230 / 2230

position of stopcodon in wt / mu cDNA

6892 / 6892

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

203 / 203

chromosome

strand

-1

last intron/exon boundary

6746

theoretical NMD boundary in CDS

6493

length of CDS

6690

coding sequence (CDS) position

6319

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

6521

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

68136

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

169487691

original gDNA sequence snippet

ACTGGGAACCCTTCCGTGCCCGTCTGAATGCCCAGGGACGT

altered gDNA sequence snippet

ACTGGGAACCCTTCCGTGCCTGTCTGAATGCCCAGGGACGT

original cDNA sequence snippet

ACTGGGAACCCTTCCGTGCCCGTCTGAATGCCCAGGGACGT

altered cDNA sequence snippet

ACTGGGAACCCTTCCGTGCCTGTCTGAATGCCCAGGGACGT

wildtype AA sequence

MFPGCPRLWV LVVLGTSWVG WGSQGTEAAQ LRQFYVAAQG ISWSYRPEPT NSSLNLSVTS
FKKIVYREYE PYFKKEKPQS TISGLLGPTL YAEVGDIIKV HFKNKADKPL SIHPQGIRYS
KLSEGASYLD HTFPAEKMDD AVAPGREYTY EWSISEDSGP THDDPPCLTH IYYSHENLIE
DFNSGLIGPL LICKKGTLTE GGTQKTFDKQ IVLLFAVFDE SKSWSQSSSL MYTVNGYVNG
TMPDITVCAH DHISWHLLGM SSGPELFSIH FNGQVLEQNH HKVSAITLVS ATSTTANMTV
GPEGKWIISS LTPKHLQAGM QAYIDIKNCP KKTRNLKKIT REQRRHMKRW EYFIAAEEVI
WDYAPVIPAN MDKKYRSQHL DNFSNQIGKH YKKVMYTQYE DESFTKHTVN PNMKEDGILG
PIIRAQVRDT LKIVFKNMAS RPYSIYPHGV TFSPYEDEVN SSFTSGRNNT MIRAVQPGET
YTYKWNILEF DEPTENDAQC LTRPYYSDVD IMRDIASGLI GLLLICKSRS LDRQGIQRAA
DIEQQAVFAV FDENKSWYLE DNINKFCENP DEVKRDDPKF YESNIMSNFT LSAINGYVPE
SITTLGFCFD DTVQWHFCSV GTQNEILTIH FTGHSFIYGK RHEDTLTLFP MRGESVTVTM
DNVGTWMLTS MNSSPRSKKL RLKFRDVKCI PDDDEDSYEI FEPPESTVMA TRKMHDRLEP
EDEESDADYD YQNRLAAALG IRSFRNSSLN QEEEEFNLTA LALENGTEFV SSNTDIIVGS
NYSSPSNISK FTVNNLAEPQ KAPSHQQATT AGSPLRHLIG KNSVLNSSTA EHSSPYSEDP
IEDPLQPDVT GIRLLSLGAG EFKSQEHAKH KGPKVERDQA AKHRFSWMKL LAHKVGRHLS
QDTGSPSGMR PWEDLPSQDT GSPSRMRPWK DPPSDLLLLK QSNSSKILVG RWHLASEKGS
YEIIQDTDED TAVNNWLISP QNASRAWGES TPLANKPGKQ SGHPKFPRVR HKSLQVRQDG
GKSRLKKSQF LIKTRKKKKE KHTHHAPLSP RTFHPLRSEA YNTFSERRLK HSLVLHKSNE
TSLPTDLNQT LPSMDFGWIA SLPDHNQNSS NDTGQASCPP GLYQTVPPEE HYQTFPIQDP
DQMHSTSDPS HRSSSPELSE MLEYDRSHKS FPTDISQMSP SSEHEVWQTV ISPDLSQVTL
SPELSQTNLS PDLSHTTLSP ELIQRNLSPA LGQMPISPDL SHTTLSPDLS HTTLSLDLSQ
TNLSPELSQT NLSPALGQMP LSPDLSHTTL SLDFSQTNLS PELSHMTLSP ELSQTNLSPA
LGQMPISPDL SHTTLSLDFS QTNLSPELSQ TNLSPALGQM PLSPDPSHTT LSLDLSQTNL
SPELSQTNLS PDLSEMPLFA DLSQIPLTPD LDQMTLSPDL GETDLSPNFG QMSLSPDLSQ
VTLSPDISDT TLLPDLSQIS PPPDLDQIFY PSESSQSLLL QEFNESFPYP DLGQMPSPSS
PTLNDTFLSK EFNPLVIVGL SKDGTDYIEI IPKEEVQSSE DDYAEIDYVP YDDPYKTDVR
TNINSSRDPD NIAAWYLRSN NGNRRNYYIA AEEISWDYSE FVQRETDIED SDDIPEDTTY
KKVVFRKYLD STFTKRDPRG EYEEHLGILG PIIRAEVDDV IQVRFKNLAS RPYSLHAHGL
SYEKSSEGKT YEDDSPEWFK EDNAVQPNSS YTYVWHATER SGPESPGSAC RAWAYYSAVN
PEKDIHSGLI GPLLICQKGI LHKDSNMPMD MREFVLLFMT FDEKKSWYYE KKSRSSWRLT
SSEMKKSHEF HAINGMIYSL PGLKMYEQEW VRLHLLNIGG SQDIHVVHFH GQTLLENGNK
QHQLGVWPLL PGSFKTLEMK ASKPGWWLLN TEVGENQRAG MQTPFLIMDR DCRMPMGLST
GIISDSQIKA SEFLGYWEPR LARLNNGGSY NAWSVEKLAA EFASKPWIQV DMQKEVIITG
IQTQGAKHYL KSCYTTEFYV AYSSNQINWQ IFKGNSTRNV MYFNGNSDAS TIKENQFDPP
IVARYIRISP TRAYNRPTLR LELQGCEVNG CSTPLGMENG KIENKQITAS SFKKSWWGDY
WEPFRARLNA QGRVNAWQAK ANNNKQWLEI DLLKIKKITA IITQGCKSLS SEMYVKSYTI
HYSEQGVEWK PYRLKSSMVD KIFEGNTNTK GHVKNFFNPP IISRFIRVIP KTWNQSIALR
LELFGCDIY*

mutated AA sequence

MFPGCPRLWV LVVLGTSWVG WGSQGTEAAQ LRQFYVAAQG ISWSYRPEPT NSSLNLSVTS
FKKIVYREYE PYFKKEKPQS TISGLLGPTL YAEVGDIIKV HFKNKADKPL SIHPQGIRYS
KLSEGASYLD HTFPAEKMDD AVAPGREYTY EWSISEDSGP THDDPPCLTH IYYSHENLIE
DFNSGLIGPL LICKKGTLTE GGTQKTFDKQ IVLLFAVFDE SKSWSQSSSL MYTVNGYVNG
TMPDITVCAH DHISWHLLGM SSGPELFSIH FNGQVLEQNH HKVSAITLVS ATSTTANMTV
GPEGKWIISS LTPKHLQAGM QAYIDIKNCP KKTRNLKKIT REQRRHMKRW EYFIAAEEVI
WDYAPVIPAN MDKKYRSQHL DNFSNQIGKH YKKVMYTQYE DESFTKHTVN PNMKEDGILG
PIIRAQVRDT LKIVFKNMAS RPYSIYPHGV TFSPYEDEVN SSFTSGRNNT MIRAVQPGET
YTYKWNILEF DEPTENDAQC LTRPYYSDVD IMRDIASGLI GLLLICKSRS LDRQGIQRAA
DIEQQAVFAV FDENKSWYLE DNINKFCENP DEVKRDDPKF YESNIMSNFT LSAINGYVPE
SITTLGFCFD DTVQWHFCSV GTQNEILTIH FTGHSFIYGK RHEDTLTLFP MRGESVTVTM
DNVGTWMLTS MNSSPRSKKL RLKFRDVKCI PDDDEDSYEI FEPPESTVMA TRKMHDRLEP
EDEESDADYD YQNRLAAALG IRSFRNSSLN QEEEEFNLTA LALENGTEFV SSNTDIIVGS
NYSSPSNISK FTVNNLAEPQ KAPSHQQATT AGSPLRHLIG KNSVLNSSTA EHSSPYSEDP
IEDPLQPDVT GIRLLSLGAG EFKSQEHAKH KGPKVERDQA AKHRFSWMKL LAHKVGRHLS
QDTGSPSGMR PWEDLPSQDT GSPSRMRPWK DPPSDLLLLK QSNSSKILVG RWHLASEKGS
YEIIQDTDED TAVNNWLISP QNASRAWGES TPLANKPGKQ SGHPKFPRVR HKSLQVRQDG
GKSRLKKSQF LIKTRKKKKE KHTHHAPLSP RTFHPLRSEA YNTFSERRLK HSLVLHKSNE
TSLPTDLNQT LPSMDFGWIA SLPDHNQNSS NDTGQASCPP GLYQTVPPEE HYQTFPIQDP
DQMHSTSDPS HRSSSPELSE MLEYDRSHKS FPTDISQMSP SSEHEVWQTV ISPDLSQVTL
SPELSQTNLS PDLSHTTLSP ELIQRNLSPA LGQMPISPDL SHTTLSPDLS HTTLSLDLSQ
TNLSPELSQT NLSPALGQMP LSPDLSHTTL SLDFSQTNLS PELSHMTLSP ELSQTNLSPA
LGQMPISPDL SHTTLSLDFS QTNLSPELSQ TNLSPALGQM PLSPDPSHTT LSLDLSQTNL
SPELSQTNLS PDLSEMPLFA DLSQIPLTPD LDQMTLSPDL GETDLSPNFG QMSLSPDLSQ
VTLSPDISDT TLLPDLSQIS PPPDLDQIFY PSESSQSLLL QEFNESFPYP DLGQMPSPSS
PTLNDTFLSK EFNPLVIVGL SKDGTDYIEI IPKEEVQSSE DDYAEIDYVP YDDPYKTDVR
TNINSSRDPD NIAAWYLRSN NGNRRNYYIA AEEISWDYSE FVQRETDIED SDDIPEDTTY
KKVVFRKYLD STFTKRDPRG EYEEHLGILG PIIRAEVDDV IQVRFKNLAS RPYSLHAHGL
SYEKSSEGKT YEDDSPEWFK EDNAVQPNSS YTYVWHATER SGPESPGSAC RAWAYYSAVN
PEKDIHSGLI GPLLICQKGI LHKDSNMPMD MREFVLLFMT FDEKKSWYYE KKSRSSWRLT
SSEMKKSHEF HAINGMIYSL PGLKMYEQEW VRLHLLNIGG SQDIHVVHFH GQTLLENGNK
QHQLGVWPLL PGSFKTLEMK ASKPGWWLLN TEVGENQRAG MQTPFLIMDR DCRMPMGLST
GIISDSQIKA SEFLGYWEPR LARLNNGGSY NAWSVEKLAA EFASKPWIQV DMQKEVIITG
IQTQGAKHYL KSCYTTEFYV AYSSNQINWQ IFKGNSTRNV MYFNGNSDAS TIKENQFDPP
IVARYIRISP TRAYNRPTLR LELQGCEVNG CSTPLGMENG KIENKQITAS SFKKSWWGDY
WEPFRACLNA QGRVNAWQAK ANNNKQWLEI DLLKIKKITA IITQGCKSLS SEMYVKSYTI
HYSEQGVEWK PYRLKSSMVD KIFEGNTNTK GHVKNFFNPP IISRFIRVIP KTWNQSIALR
LELFGCDIY*

speed

1.16 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems