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: ENST00000316623
MT speed 0 s - this script 3.081109 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
FBN1	disease_causing_automatic	0.999999999997962	simple_aae		affected	0	C2221S	single base exchange	rs137854460		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999997962 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM054722)
known disease mutation at this position (HGMD CM161859)
known disease mutation at this position (HGMD CM920269)
known disease mutation: rs16427 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr15:48725140C>GN/A show variant in all transcripts IGV

HGNC symbol

FBN1

Ensembl transcript ID

ENST00000316623

Genbank transcript ID

NM_000138

UniProt peptide

P35555

alteration type

single base exchange

alteration region

CDS

DNA changes

c.6662G>C
cDNA.7118G>C
g.212907G>C

AA changes

C2221S Score: 112 explain score(s)

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

2221

frameshift

known variant

Reference ID: rs137854460
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs16427 (pathogenic for Marfan syndrome) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM161859)

known disease mutation at this position, please check HGMD for details (HGMD ID CM161859)
known disease mutation at this position, please check HGMD for details (HGMD ID CM920269)

known disease mutation at this position, please check HGMD for details (HGMD ID CM161859)
known disease mutation at this position, please check HGMD for details (HGMD ID CM920269)
known disease mutation at this position, please check HGMD for details (HGMD ID CM054722)

known disease mutation at this position, please check HGMD for details (HGMD ID CM161859)
known disease mutation at this position, please check HGMD for details (HGMD ID CM920269)
known disease mutation at this position, please check HGMD for details (HGMD ID CM054722)
known disease mutation at this position, please check HGMD for details (HGMD ID CM054722)

known disease mutation at this position, please check HGMD for details (HGMD ID CM161859)
known disease mutation at this position, please check HGMD for details (HGMD ID CM920269)
known disease mutation at this position, please check HGMD for details (HGMD ID CM054722)
known disease mutation at this position, please check HGMD for details (HGMD ID CM054722)
known disease mutation at this position, please check HGMD for details (HGMD ID CM920269)

regulatory features

FOSL2, Transcription Factor, FOSL2 Transcription Factor Binding
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Jund, Transcription Factor, Jund TF binding

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.622	1
	6.275	1
(flanking)	5.181	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
Acc increased	212912	wt: 0.25 / mu: 0.65	wt: TCTGTGCCTTCCGATGTGTGAACACTTATGGGTCATATGAA mu: TCTGTGCCTTCCGATCTGTGAACACTTATGGGTCATATGAA	gtga\|ACAC
Acc marginally increased	212905	wt: 0.9081 / mu: 0.9200 (marginal change - not scored)	wt: CCTCTGCTCTGTGCCTTCCGATGTGTGAACACTTATGGGTC mu: CCTCTGCTCTGTGCCTTCCGATCTGTGAACACTTATGGGTC	ccga\|TGTG
Acc marginally increased	212904	wt: 0.8476 / mu: 0.8620 (marginal change - not scored)	wt: TCCTCTGCTCTGTGCCTTCCGATGTGTGAACACTTATGGGT mu: TCCTCTGCTCTGTGCCTTCCGATCTGTGAACACTTATGGGT	tccg\|ATGT
Acc marginally increased	212908	wt: 0.9768 / mu: 0.9809 (marginal change - not scored)	wt: CTGCTCTGTGCCTTCCGATGTGTGAACACTTATGGGTCATA mu: CTGCTCTGTGCCTTCCGATCTGTGAACACTTATGGGTCATA	atgt\|GTGA
Acc marginally increased	212898	wt: 0.9219 / mu: 0.9423 (marginal change - not scored)	wt: CCAGAATCCTCTGCTCTGTGCCTTCCGATGTGTGAACACTT mu: CCAGAATCCTCTGCTCTGTGCCTTCCGATCTGTGAACACTT	gtgc\|CTTC
Donor increased	212908	wt: 0.64 / mu: 0.90	wt: CGATGTGTGAACACT mu: CGATCTGTGAACACT	ATGT\|gtga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

2221

mutated

not conserved

2221

Ptroglodytes

all identical

ENSPTRG00000007046

2221

Mmulatta

all identical

ENSMMUG00000004239

2221

Fcatus

all identical

ENSFCAG00000015352

2138

Mmusculus

all identical

ENSMUSG00000027204

2223

Ggallus

all identical

ENSGALG00000004960

2182

Trubripes

all identical

ENSTRUG00000016929

2251

Drerio

no alignment

ENSDARG00000088379

n/a

Dmelanogaster

all identical

FBgn0051999

620

LNA

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000008779

2168

protein features

start (aa)	end (aa)	feature	details
2206	2246	DOMAIN	EGF-like 38; calcium-binding.	lost
2221	2221	DISULFID	By similarity.	lost
2230	2230	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2232	2232	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2245	2245	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2247	2290	DOMAIN	EGF-like 39; calcium-binding.	might get lost (downstream of altered splice site)
2251	2251	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2258	2258	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2265	2265	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2274	2274	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2276	2276	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2289	2289	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2291	2332	DOMAIN	EGF-like 40; calcium-binding.	might get lost (downstream of altered splice site)
2295	2295	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2302	2302	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2307	2307	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2316	2316	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2318	2318	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2331	2331	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2337	2390	DOMAIN	TB 9.	might get lost (downstream of altered splice site)
2402	2443	DOMAIN	EGF-like 41; calcium-binding.	might get lost (downstream of altered splice site)
2406	2406	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2413	2413	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2418	2418	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2427	2427	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2429	2429	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2442	2442	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2444	2484	DOMAIN	EGF-like 42; calcium-binding.	might get lost (downstream of altered splice site)
2448	2448	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2455	2455	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2459	2459	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2468	2468	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2470	2470	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2483	2483	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2485	2523	DOMAIN	EGF-like 43; calcium-binding.	might get lost (downstream of altered splice site)
2489	2489	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2496	2496	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2500	2500	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2509	2509	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2511	2511	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2522	2522	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2524	2566	DOMAIN	EGF-like 44; calcium-binding.	might get lost (downstream of altered splice site)
2528	2528	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2535	2535	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2541	2541	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2550	2550	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2552	2552	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2565	2565	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2567	2606	DOMAIN	EGF-like 45; calcium-binding.	might get lost (downstream of altered splice site)
2571	2571	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2577	2577	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2581	2581	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2590	2590	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2592	2592	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2605	2605	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2607	2647	DOMAIN	EGF-like 46; calcium-binding.	might get lost (downstream of altered splice site)
2611	2611	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2617	2617	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2622	2622	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2631	2631	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2633	2633	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2646	2646	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2648	2687	DOMAIN	EGF-like 47; calcium-binding.	might get lost (downstream of altered splice site)
2652	2652	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2659	2659	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2663	2663	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2672	2672	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2674	2674	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2686	2686	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2734	2734	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
2750	2750	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
2767	2767	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

8616 / 8616

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

2872 / 2872

position of stopcodon in wt / mu cDNA

9072 / 9072

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

457 / 457

chromosome

strand

-1

last intron/exon boundary

8683

theoretical NMD boundary in CDS

8176

length of CDS

8616

coding sequence (CDS) position

6662

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

7118

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

212907

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

48725140

original gDNA sequence snippet

TCTGCTCTGTGCCTTCCGATGTGTGAACACTTATGGGTCAT

altered gDNA sequence snippet

TCTGCTCTGTGCCTTCCGATCTGTGAACACTTATGGGTCAT

original cDNA sequence snippet

TCTGCTCTGTGCCTTCCGATGTGTGAACACTTATGGGTCAT

altered cDNA sequence snippet

TCTGCTCTGTGCCTTCCGATCTGTGAACACTTATGGGTCAT

wildtype AA sequence

MRRGRLLEIA LGFTVLLASY TSHGADANLE AGNVKETRAS RAKRRGGGGH DALKGPNVCG
SRYNAYCCPG WKTLPGGNQC IVPICRHSCG DGFCSRPNMC TCPSGQIAPS CGSRSIQHCN
IRCMNGGSCS DDHCLCQKGY IGTHCGQPVC ESGCLNGGRC VAPNRCACTY GFTGPQCERD
YRTGPCFTVI SNQMCQGQLS GIVCTKTLCC ATVGRAWGHP CEMCPAQPHP CRRGFIPNIR
TGACQDVDEC QAIPGLCQGG NCINTVGSFE CKCPAGHKLN EVSQKCEDID ECSTIPGICE
GGECTNTVSS YFCKCPPGFY TSPDGTRCID VRPGYCYTAL TNGRCSNQLP QSITKMQCCC
DAGRCWSPGV TVAPEMCPIR ATEDFNKLCS VPMVIPGRPE YPPPPLGPIP PVLPVPPGFP
PGPQIPVPRP PVEYLYPSRE PPRVLPVNVT DYCQLVRYLC QNGRCIPTPG SCRCECNKGF
QLDLRGECID VDECEKNPCA GGECINNQGS YTCQCRAGYQ STLTRTECRD IDECLQNGRI
CNNGRCINTD GSFHCVCNAG FHVTRDGKNC EDMDECSIRN MCLNGMCINE DGSFKCICKP
GFQLASDGRY CKDINECETP GICMNGRCVN TDGSYRCECF PGLAVGLDGR VCVDTHMRST
CYGGYKRGQC IKPLFGAVTK SECCCASTEY AFGEPCQPCP AQNSAEYQAL CSSGPGMTSA
GSDINECALD PDICPNGICE NLRGTYKCIC NSGYEVDSTG KNCVDINECV LNSLLCDNGQ
CRNTPGSFVC TCPKGFIYKP DLKTCEDIDE CESSPCINGV CKNSPGSFIC ECSSESTLDP
TKTICIETIK GTCWQTVIDG RCEININGAT LKSQCCSSLG AAWGSPCTLC QVDPICGKGY
SRIKGTQCED IDECEVFPGV CKNGLCVNTR GSFKCQCPSG MTLDATGRIC LDIRLETCFL
RYEDEECTLP IAGRHRMDAC CCSVGAAWGT EECEECPMRN TPEYEELCPR GPGFATKEIT
NGKPFFKDIN ECKMIPSLCT HGKCRNTIGS FKCRCDSGFA LDSEERNCTD IDECRISPDL
CGRGQCVNTP GDFECKCDEG YESGFMMMKN CMDIDECQRD PLLCRGGVCH NTEGSYRCEC
PPGHQLSPNI SACIDINECE LSAHLCPNGR CVNLIGKYQC ACNPGYHSTP DRLFCVDIDE
CSIMNGGCET FCTNSEGSYE CSCQPGFALM PDQRSCTDID ECEDNPNICD GGQCTNIPGE
YRCLCYDGFM ASEDMKTCVD VNECDLNPNI CLSGTCENTK GSFICHCDMG YSGKKGKTGC
TDINECEIGA HNCGKHAVCT NTAGSFKCSC SPGWIGDGIK CTDLDECSNG THMCSQHADC
KNTMGSYRCL CKEGYTGDGF TCTDLDECSE NLNLCGNGQC LNAPGGYRCE CDMGFVPSAD
GKACEDIDEC SLPNICVFGT CHNLPGLFRC ECEIGYELDR SGGNCTDVNE CLDPTTCISG
NCVNTPGSYI CDCPPDFELN PTRVGCVDTR SGNCYLDIRP RGDNGDTACS NEIGVGVSKA
SCCCSLGKAW GTPCEMCPAV NTSEYKILCP GGEGFRPNPI TVILEDIDEC QELPGLCQGG
KCINTFGSFQ CRCPTGYYLN EDTRVCDDVN ECETPGICGP GTCYNTVGNY TCICPPDYMQ
VNGGNNCMDM RRSLCYRNYY ADNQTCDGEL LFNMTKKMCC CSYNIGRAWN KPCEQCPIPS
TDEFATLCGS QRPGFVIDIY TGLPVDIDEC REIPGVCENG VCINMVGSFR CECPVGFFYN
DKLLVCEDID ECQNGPVCQR NAECINTAGS YRCDCKPGYR FTSTGQCNDR NECQEIPNIC
SHGQCIDTVG SFYCLCHTGF KTNDDQTMCL DINECERDAC GNGTCRNTIG SFNCRCNHGF
ILSHNNDCID VDECASGNGN LCRNGQCINT VGSFQCQCNE GYEVAPDGRT CVDINECLLE
PRKCAPGTCQ NLDGSYRCIC PPGYSLQNEK CEDIDECVEE PEICALGTCS NTEGSFKCLC
PEGFSLSSSG RRCQDLRMSY CYAKFEGGKC SSPKSRNHSK QECCCALKGE GWGDPCELCP
TEPDEAFRQI CPYGSGIIVG PDDSAVDMDE CKEPDVCKHG QCINTDGSYR CECPFGYILA
GNECVDTDEC SVGNPCGNGT CKNVIGGFEC TCEEGFEPGP MMTCEDINEC AQNPLLCAFR
CVNTYGSYEC KCPVGYVLRE DRRMCKDEDE CEEGKHDCTE KQMECKNLIG TYMCICGPGY
QRRPDGEGCV DENECQTKPG ICENGRCLNT RGSYTCECND GFTASPNQDE CLDNREGYCF
TEVLQNMCQI GSSNRNPVTK SECCCDGGRG WGPHCEICPF QGTVAFKKLC PHGRGFMTNG
ADIDECKVIH DVCRNGECVN DRGSYHCICK TGYTPDITGT SCVDLNECNQ APKPCNFICK
NTEGSYQCSC PKGYILQEDG RSCKDLDECA TKQHNCQFLC VNTIGGFTCK CPPGFTQHHT
SCIDNNECTS DINLCGSKGI CQNTPGSFTC ECQRGFSLDQ TGSSCEDVDE CEGNHRCQHG
CQNIIGGYRC SCPQGYLQHY QWNQCVDENE CLSAHICGGA SCHNTLGSYK CMCPAGFQYE
QFSGGCQDIN ECGSAQAPCS YGCSNTEGGY LCGCPPGYFR IGQGHCVSGM GMGRGNPEPP
VSGEMDDNSL SPEACYECKI NGYPKRGRKR RSTNETDASN IEDQSETEAN VSLASWDVEK
TAIFAFNISH VSNKVRILEL LPALTTLTNH NRYLIESGNE DGFFKINQKE GISYLHFTKK
KPVAGTYSLQ ISSTPLYKKK ELNQLEDKYD KDYLSGELGD NLKMKIQVLL H*

mutated AA sequence

MRRGRLLEIA LGFTVLLASY TSHGADANLE AGNVKETRAS RAKRRGGGGH DALKGPNVCG
SRYNAYCCPG WKTLPGGNQC IVPICRHSCG DGFCSRPNMC TCPSGQIAPS CGSRSIQHCN
IRCMNGGSCS DDHCLCQKGY IGTHCGQPVC ESGCLNGGRC VAPNRCACTY GFTGPQCERD
YRTGPCFTVI SNQMCQGQLS GIVCTKTLCC ATVGRAWGHP CEMCPAQPHP CRRGFIPNIR
TGACQDVDEC QAIPGLCQGG NCINTVGSFE CKCPAGHKLN EVSQKCEDID ECSTIPGICE
GGECTNTVSS YFCKCPPGFY TSPDGTRCID VRPGYCYTAL TNGRCSNQLP QSITKMQCCC
DAGRCWSPGV TVAPEMCPIR ATEDFNKLCS VPMVIPGRPE YPPPPLGPIP PVLPVPPGFP
PGPQIPVPRP PVEYLYPSRE PPRVLPVNVT DYCQLVRYLC QNGRCIPTPG SCRCECNKGF
QLDLRGECID VDECEKNPCA GGECINNQGS YTCQCRAGYQ STLTRTECRD IDECLQNGRI
CNNGRCINTD GSFHCVCNAG FHVTRDGKNC EDMDECSIRN MCLNGMCINE DGSFKCICKP
GFQLASDGRY CKDINECETP GICMNGRCVN TDGSYRCECF PGLAVGLDGR VCVDTHMRST
CYGGYKRGQC IKPLFGAVTK SECCCASTEY AFGEPCQPCP AQNSAEYQAL CSSGPGMTSA
GSDINECALD PDICPNGICE NLRGTYKCIC NSGYEVDSTG KNCVDINECV LNSLLCDNGQ
CRNTPGSFVC TCPKGFIYKP DLKTCEDIDE CESSPCINGV CKNSPGSFIC ECSSESTLDP
TKTICIETIK GTCWQTVIDG RCEININGAT LKSQCCSSLG AAWGSPCTLC QVDPICGKGY
SRIKGTQCED IDECEVFPGV CKNGLCVNTR GSFKCQCPSG MTLDATGRIC LDIRLETCFL
RYEDEECTLP IAGRHRMDAC CCSVGAAWGT EECEECPMRN TPEYEELCPR GPGFATKEIT
NGKPFFKDIN ECKMIPSLCT HGKCRNTIGS FKCRCDSGFA LDSEERNCTD IDECRISPDL
CGRGQCVNTP GDFECKCDEG YESGFMMMKN CMDIDECQRD PLLCRGGVCH NTEGSYRCEC
PPGHQLSPNI SACIDINECE LSAHLCPNGR CVNLIGKYQC ACNPGYHSTP DRLFCVDIDE
CSIMNGGCET FCTNSEGSYE CSCQPGFALM PDQRSCTDID ECEDNPNICD GGQCTNIPGE
YRCLCYDGFM ASEDMKTCVD VNECDLNPNI CLSGTCENTK GSFICHCDMG YSGKKGKTGC
TDINECEIGA HNCGKHAVCT NTAGSFKCSC SPGWIGDGIK CTDLDECSNG THMCSQHADC
KNTMGSYRCL CKEGYTGDGF TCTDLDECSE NLNLCGNGQC LNAPGGYRCE CDMGFVPSAD
GKACEDIDEC SLPNICVFGT CHNLPGLFRC ECEIGYELDR SGGNCTDVNE CLDPTTCISG
NCVNTPGSYI CDCPPDFELN PTRVGCVDTR SGNCYLDIRP RGDNGDTACS NEIGVGVSKA
SCCCSLGKAW GTPCEMCPAV NTSEYKILCP GGEGFRPNPI TVILEDIDEC QELPGLCQGG
KCINTFGSFQ CRCPTGYYLN EDTRVCDDVN ECETPGICGP GTCYNTVGNY TCICPPDYMQ
VNGGNNCMDM RRSLCYRNYY ADNQTCDGEL LFNMTKKMCC CSYNIGRAWN KPCEQCPIPS
TDEFATLCGS QRPGFVIDIY TGLPVDIDEC REIPGVCENG VCINMVGSFR CECPVGFFYN
DKLLVCEDID ECQNGPVCQR NAECINTAGS YRCDCKPGYR FTSTGQCNDR NECQEIPNIC
SHGQCIDTVG SFYCLCHTGF KTNDDQTMCL DINECERDAC GNGTCRNTIG SFNCRCNHGF
ILSHNNDCID VDECASGNGN LCRNGQCINT VGSFQCQCNE GYEVAPDGRT CVDINECLLE
PRKCAPGTCQ NLDGSYRCIC PPGYSLQNEK CEDIDECVEE PEICALGTCS NTEGSFKCLC
PEGFSLSSSG RRCQDLRMSY CYAKFEGGKC SSPKSRNHSK QECCCALKGE GWGDPCELCP
TEPDEAFRQI CPYGSGIIVG PDDSAVDMDE CKEPDVCKHG QCINTDGSYR CECPFGYILA
GNECVDTDEC SVGNPCGNGT CKNVIGGFEC TCEEGFEPGP MMTCEDINEC AQNPLLCAFR
SVNTYGSYEC KCPVGYVLRE DRRMCKDEDE CEEGKHDCTE KQMECKNLIG TYMCICGPGY
QRRPDGEGCV DENECQTKPG ICENGRCLNT RGSYTCECND GFTASPNQDE CLDNREGYCF
TEVLQNMCQI GSSNRNPVTK SECCCDGGRG WGPHCEICPF QGTVAFKKLC PHGRGFMTNG
ADIDECKVIH DVCRNGECVN DRGSYHCICK TGYTPDITGT SCVDLNECNQ APKPCNFICK
NTEGSYQCSC PKGYILQEDG RSCKDLDECA TKQHNCQFLC VNTIGGFTCK CPPGFTQHHT
SCIDNNECTS DINLCGSKGI CQNTPGSFTC ECQRGFSLDQ TGSSCEDVDE CEGNHRCQHG
CQNIIGGYRC SCPQGYLQHY QWNQCVDENE CLSAHICGGA SCHNTLGSYK CMCPAGFQYE
QFSGGCQDIN ECGSAQAPCS YGCSNTEGGY LCGCPPGYFR IGQGHCVSGM GMGRGNPEPP
VSGEMDDNSL SPEACYECKI NGYPKRGRKR RSTNETDASN IEDQSETEAN VSLASWDVEK
TAIFAFNISH VSNKVRILEL LPALTTLTNH NRYLIESGNE DGFFKINQKE GISYLHFTKK
KPVAGTYSLQ ISSTPLYKKK ELNQLEDKYD KDYLSGELGD NLKMKIQVLL H*

speed

0.87 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

disease causing

Problems