MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 2 transcript(s)...
Querying Taster for transcript #1: ENST00000552810
Querying Taster for transcript #2: ENST00000309041
MT speed 0 s - this script 3.868907 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CEP290	disease_causing_automatic	0.999999960351185	simple_aae		affected	0	W7C	single base exchange	rs62635288		show file
CEP290	disease_causing_automatic	0.999999960351185	simple_aae		affected	0	W7C	single base exchange	rs62635288		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999960351185 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CI163032)
known disease mutation at this position (HGMD CM061686)
known disease mutation: rs1335 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:88535064C>AN/A show variant in all transcripts IGV

HGNC symbol

CEP290

Ensembl transcript ID

ENST00000552810

Genbank transcript ID

NM_025114

UniProt peptide

O15078

alteration type

single base exchange

alteration region

CDS

DNA changes

c.21G>T
cDNA.365G>T
g.930G>T

AA changes

W7C Score: 215 explain score(s)

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

frameshift

known variant

Reference ID: rs62635288
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs1335 (pathogenic for Nephronophthisis|Joubert syndrome 5|Leber congenital amaurosis|not provided) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CI163032)

known disease mutation at this position, please check HGMD for details (HGMD ID CI163032)
known disease mutation at this position, please check HGMD for details (HGMD ID CM061686)

known disease mutation at this position, please check HGMD for details (HGMD ID CI163032)
known disease mutation at this position, please check HGMD for details (HGMD ID CM061686)
known disease mutation at this position, please check HGMD for details (HGMD ID CM061686)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.294	1
	3.345	1
(flanking)	3.345	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	921	wt: 0.30 / mu: 0.63	wt: CCTAATATAAACTGG mu: CCTAATATAAACTGT	TAAT\|ataa
Donor marginally increased	928	wt: 0.9972 / mu: 0.9980 (marginal change - not scored)	wt: TAAACTGGAAAGAAA mu: TAAACTGTAAAGAAA	AACT\|ggaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000005278

Mmulatta

all identical

ENSMMUG00000015862

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000019971

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000062727

Dmelanogaster

no alignment

FBgn0035168

n/a

Celegans

no alignment

R07G3.3

n/a

Xtropicalis

all identical

ENSXETG00000011742

protein features

start (aa)	end (aa)	feature	details
59	565	COILED	Potential.	might get lost (downstream of altered splice site)
544	544	CONFLICT	S -> C (in Ref. 4; AK023677).	might get lost (downstream of altered splice site)
598	664	COILED	Potential.	might get lost (downstream of altered splice site)
697	931	COILED	Potential.	might get lost (downstream of altered splice site)
718	718	CONFLICT	E -> G (in Ref. 4; AK023677).	might get lost (downstream of altered splice site)
958	1027	COILED	Potential.	might get lost (downstream of altered splice site)
1071	1498	COILED	Potential.	might get lost (downstream of altered splice site)
1209	1209	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1533	1584	COILED	Potential.	might get lost (downstream of altered splice site)
1635	2452	COILED	Potential.	might get lost (downstream of altered splice site)
1697	1697	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2395	2395	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

7440 / 7440

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

2480 / 2480

position of stopcodon in wt / mu cDNA

7784 / 7784

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

345 / 345

chromosome

strand

-1

last intron/exon boundary

7554

theoretical NMD boundary in CDS

7159

length of CDS

7440

coding sequence (CDS) position

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

365

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

930

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

88535064

original gDNA sequence snippet

ATGCCACCTAATATAAACTGGAAAGAAATAATGAAAGTTGA

altered gDNA sequence snippet

ATGCCACCTAATATAAACTGTAAAGAAATAATGAAAGTTGA

original cDNA sequence snippet

ATGCCACCTAATATAAACTGGAAAGAAATAATGAAAGTTGA

altered cDNA sequence snippet

ATGCCACCTAATATAAACTGTAAAGAAATAATGAAAGTTGA

wildtype AA sequence

MPPNINWKEI MKVDPDDLPR QEELADNLLI SLSKVEVNEL KSEKQENVIH LFRITQSLMK
MKAQEVELAL EEVEKAGEEQ AKFENQLKTK VMKLENELEM AQQSAGGRDT RFLRNEICQL
EKQLEQKDRE LEDMEKELEK EKKVNEQLAL RNEEAENENS KLRRENKRLK KKNEQLCQDI
IDYQKQIDSQ KETLLSRRGE DSDYRSQLSK KNYELIQYLD EIQTLTEANE KIEVQNQEMR
KNLEESVQEM EKMTDEYNRM KAIVHQTDNV IDQLKKENDH YQLQVQELTD LLKSKNEEDD
PIMVAVNAKV EEWKLILSSK DDEIIEYQQM LHNLREKLKN AQLDADKSNV MALQQGIQER
DSQIKMLTEQ VEQYTKEMEK NTCIIEDLKN ELQRNKGAST LSQQTHMKIQ STLDILKEKT
KEAERTAELA EADAREKDKE LVEALKRLKD YESGVYGLED AVVEIKNCKN QIKIRDREIE
ILTKEINKLE LKISDFLDEN EALRERVGLE PKTMIDLTEF RNSKHLKQQQ YRAENQILLK
EIESLEEERL DLKKKIRQMA QERGKRSATS GLTTEDLNLT ENISQGDRIS ERKLDLLSLK
NMSEAQSKNE FLSRELIEKE RDLERSRTVI AKFQNKLKEL VEENKQLEEG MKEILQAIKE
MQKDPDVKGG ETSLIIPSLE RLVNAIESKN AEGIFDASLH LKAQVDQLTG RNEELRQELR
ESRKEAINYS QQLAKANLKI DHLEKETSLL RQSEGSNVVF KGIDLPDGIA PSSASIINSQ
NEYLIHLLQE LENKEKKLKN LEDSLEDYNR KFAVIRHQQS LLYKEYLSEK ETWKTESKTI
KEEKRKLEDQ VQQDAIKVKE YNNLLNALQM DSDEMKKILA ENSRKITVLQ VNEKSLIRQY
TTLVELERQL RKENEKQKNE LLSMEAEVCE KIGCLQRFKE MAIFKIAALQ KVVDNSVSLS
ELELANKQYN ELTAKYRDIL QKDNMLVQRT SNLEHLECEN ISLKEQVESI NKELEITKEK
LHTIEQAWEQ ETKLGNESSM DKAKKSITNS DIVSISKKIT MLEMKELNER QRAEHCQKMY
EHLRTSLKQM EERNFELETK FAELTKINLD AQKVEQMLRD ELADSVSKAV SDADRQRILE
LEKNEMELKV EVSKLREISD IARRQVEILN AQQQSRDKEV ESLRMQLLDY QAQSDEKSLI
AKLHQHNVSL QLSEATALGK LESITSKLQK MEAYNLRLEQ KLDEKEQALY YARLEGRNRA
KHLRQTIQSL RRQFSGALPL AQQEKFSKTM IQLQNDKLKI MQEMKNSQQE HRNMENKTLE
MELKLKGLEE LISTLKDTKG AQKVINWHMK IEELRLQELK LNRELVKDKE EIKYLNNIIS
EYERTISSLE EEIVQQNKFH EERQMAWDQR EVDLERQLDI FDRQQNEILN AAQKFEEATG
SIPDPSLPLP NQLEIALRKI KENIRIILET RATCKSLEEK LKEKESALRL AEQNILSRDK
VINELRLRLP ATAEREKLIA ELGRKEMEPK SHHTLKIAHQ TIANMQARLN QKEEVLKKYQ
RLLEKAREEQ REIVKKHEED LHILHHRLEL QADSSLNKFK QTAWDLMKQS PTPVPTNKHF
IRLAEMEQTV AEQDDSLSSL LVKLKKVSQD LERQREITEL KVKEFENIKL QLQENHEDEV
KKVKAEVEDL KYLLDQSQKE SQCLKSELQA QKEANSRAPT TTMRNLVERL KSQLALKEKQ
QKALSRALLE LRAEMTAAAE ERIISATSQK EAHLNVQQIV DRHTRELKTQ VEDLNENLLK
LKEALKTSKN RENSLTDNLN DLNNELQKKQ KAYNKILREK EEIDQENDEL KRQIKRLTSG
LQGKPLTDNK QSLIEELQRK VKKLENQLEG KVEEVDLKPM KEKNAKEELI RWEEGKKWQA
KIEGIRNKLK EKEGEVFTLT KQLNTLKDLF AKADKEKLTL QRKLKTTGMT VDQVLGIRAL
ESEKELEELK KRNLDLENDI LYMRAHQALP RDSVVEDLHL QNRYLQEKLH ALEKQFSKDT
YSKPSISGIE SDDHCQREQE LQKENLKLSS ENIELKFQLE QANKDLPRLK NQVRDLKEMC
EFLKKEKAEV QRKLGHVRGS GRSGKTIPEL EKTIGLMKKV VEKVQRENEQ LKKASGILTS
EKMANIEQEN EKLKAELEKL KAHLGHQLSM HYESKTKGTE KIIAENERLR KELKKETDAA
EKLRIAKNNL EILNEKMTVQ LEETGKRLQF AESRGPQLEG ADSKSWKSIV VTRMYETKLK
ELETDIAKKN QSITDLKQLV KEATEREQKV NKYNEDLEQQ IKILKHVPEG AETEQGLKRE
LQVLRLANHQ LDKEKAELIH QIEANKDQSG AESTIPDADQ LKEKIKDLET QLKMSDLEKQ
HLKEEIKKLK KELENFDPSF FEEIEDLKYN YKEEVKKNIL LEEKVKKLSE QLGVELTSPV
AASEEFEDEE ESPVNFPIY*

mutated AA sequence

MPPNINCKEI MKVDPDDLPR QEELADNLLI SLSKVEVNEL KSEKQENVIH LFRITQSLMK
MKAQEVELAL EEVEKAGEEQ AKFENQLKTK VMKLENELEM AQQSAGGRDT RFLRNEICQL
EKQLEQKDRE LEDMEKELEK EKKVNEQLAL RNEEAENENS KLRRENKRLK KKNEQLCQDI
IDYQKQIDSQ KETLLSRRGE DSDYRSQLSK KNYELIQYLD EIQTLTEANE KIEVQNQEMR
KNLEESVQEM EKMTDEYNRM KAIVHQTDNV IDQLKKENDH YQLQVQELTD LLKSKNEEDD
PIMVAVNAKV EEWKLILSSK DDEIIEYQQM LHNLREKLKN AQLDADKSNV MALQQGIQER
DSQIKMLTEQ VEQYTKEMEK NTCIIEDLKN ELQRNKGAST LSQQTHMKIQ STLDILKEKT
KEAERTAELA EADAREKDKE LVEALKRLKD YESGVYGLED AVVEIKNCKN QIKIRDREIE
ILTKEINKLE LKISDFLDEN EALRERVGLE PKTMIDLTEF RNSKHLKQQQ YRAENQILLK
EIESLEEERL DLKKKIRQMA QERGKRSATS GLTTEDLNLT ENISQGDRIS ERKLDLLSLK
NMSEAQSKNE FLSRELIEKE RDLERSRTVI AKFQNKLKEL VEENKQLEEG MKEILQAIKE
MQKDPDVKGG ETSLIIPSLE RLVNAIESKN AEGIFDASLH LKAQVDQLTG RNEELRQELR
ESRKEAINYS QQLAKANLKI DHLEKETSLL RQSEGSNVVF KGIDLPDGIA PSSASIINSQ
NEYLIHLLQE LENKEKKLKN LEDSLEDYNR KFAVIRHQQS LLYKEYLSEK ETWKTESKTI
KEEKRKLEDQ VQQDAIKVKE YNNLLNALQM DSDEMKKILA ENSRKITVLQ VNEKSLIRQY
TTLVELERQL RKENEKQKNE LLSMEAEVCE KIGCLQRFKE MAIFKIAALQ KVVDNSVSLS
ELELANKQYN ELTAKYRDIL QKDNMLVQRT SNLEHLECEN ISLKEQVESI NKELEITKEK
LHTIEQAWEQ ETKLGNESSM DKAKKSITNS DIVSISKKIT MLEMKELNER QRAEHCQKMY
EHLRTSLKQM EERNFELETK FAELTKINLD AQKVEQMLRD ELADSVSKAV SDADRQRILE
LEKNEMELKV EVSKLREISD IARRQVEILN AQQQSRDKEV ESLRMQLLDY QAQSDEKSLI
AKLHQHNVSL QLSEATALGK LESITSKLQK MEAYNLRLEQ KLDEKEQALY YARLEGRNRA
KHLRQTIQSL RRQFSGALPL AQQEKFSKTM IQLQNDKLKI MQEMKNSQQE HRNMENKTLE
MELKLKGLEE LISTLKDTKG AQKVINWHMK IEELRLQELK LNRELVKDKE EIKYLNNIIS
EYERTISSLE EEIVQQNKFH EERQMAWDQR EVDLERQLDI FDRQQNEILN AAQKFEEATG
SIPDPSLPLP NQLEIALRKI KENIRIILET RATCKSLEEK LKEKESALRL AEQNILSRDK
VINELRLRLP ATAEREKLIA ELGRKEMEPK SHHTLKIAHQ TIANMQARLN QKEEVLKKYQ
RLLEKAREEQ REIVKKHEED LHILHHRLEL QADSSLNKFK QTAWDLMKQS PTPVPTNKHF
IRLAEMEQTV AEQDDSLSSL LVKLKKVSQD LERQREITEL KVKEFENIKL QLQENHEDEV
KKVKAEVEDL KYLLDQSQKE SQCLKSELQA QKEANSRAPT TTMRNLVERL KSQLALKEKQ
QKALSRALLE LRAEMTAAAE ERIISATSQK EAHLNVQQIV DRHTRELKTQ VEDLNENLLK
LKEALKTSKN RENSLTDNLN DLNNELQKKQ KAYNKILREK EEIDQENDEL KRQIKRLTSG
LQGKPLTDNK QSLIEELQRK VKKLENQLEG KVEEVDLKPM KEKNAKEELI RWEEGKKWQA
KIEGIRNKLK EKEGEVFTLT KQLNTLKDLF AKADKEKLTL QRKLKTTGMT VDQVLGIRAL
ESEKELEELK KRNLDLENDI LYMRAHQALP RDSVVEDLHL QNRYLQEKLH ALEKQFSKDT
YSKPSISGIE SDDHCQREQE LQKENLKLSS ENIELKFQLE QANKDLPRLK NQVRDLKEMC
EFLKKEKAEV QRKLGHVRGS GRSGKTIPEL EKTIGLMKKV VEKVQRENEQ LKKASGILTS
EKMANIEQEN EKLKAELEKL KAHLGHQLSM HYESKTKGTE KIIAENERLR KELKKETDAA
EKLRIAKNNL EILNEKMTVQ LEETGKRLQF AESRGPQLEG ADSKSWKSIV VTRMYETKLK
ELETDIAKKN QSITDLKQLV KEATEREQKV NKYNEDLEQQ IKILKHVPEG AETEQGLKRE
LQVLRLANHQ LDKEKAELIH QIEANKDQSG AESTIPDADQ LKEKIKDLET QLKMSDLEKQ
HLKEEIKKLK KELENFDPSF FEEIEDLKYN YKEEVKKNIL LEEKVKKLSE QLGVELTSPV
AASEEFEDEE ESPVNFPIY*

speed

0.71 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: 0.999999960351185 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CI163032)
known disease mutation at this position (HGMD CM061686)
known disease mutation: rs1335 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:88535064C>AN/A show variant in all transcripts IGV

HGNC symbol

CEP290

Ensembl transcript ID

ENST00000309041

Genbank transcript ID

N/A

UniProt peptide

O15078

alteration type

single base exchange

alteration region

CDS

DNA changes

c.21G>T
cDNA.119G>T
g.930G>T

AA changes

W7C Score: 215 explain score(s)

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

frameshift

known variant

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.294	1
	3.345	1
(flanking)	3.345	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	921	wt: 0.30 / mu: 0.63	wt: CCTAATATAAACTGG mu: CCTAATATAAACTGT	TAAT\|ataa
Donor marginally increased	928	wt: 0.9972 / mu: 0.9980 (marginal change - not scored)	wt: TAAACTGGAAAGAAA mu: TAAACTGTAAAGAAA	AACT\|ggaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000005278

Mmulatta

all identical

ENSMMUG00000015862

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000019971

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000062727

Dmelanogaster

no alignment

FBgn0035168

n/a

Celegans

no alignment

R07G3.3

n/a

Xtropicalis

all identical

ENSXETG00000011742

protein features

start (aa)	end (aa)	feature	details
59	565	COILED	Potential.	might get lost (downstream of altered splice site)
544	544	CONFLICT	S -> C (in Ref. 4; AK023677).	might get lost (downstream of altered splice site)
598	664	COILED	Potential.	might get lost (downstream of altered splice site)
697	931	COILED	Potential.	might get lost (downstream of altered splice site)
718	718	CONFLICT	E -> G (in Ref. 4; AK023677).	might get lost (downstream of altered splice site)
958	1027	COILED	Potential.	might get lost (downstream of altered splice site)
1071	1498	COILED	Potential.	might get lost (downstream of altered splice site)
1209	1209	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1533	1584	COILED	Potential.	might get lost (downstream of altered splice site)
1635	2452	COILED	Potential.	might get lost (downstream of altered splice site)
1697	1697	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2395	2395	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

7446 / 7446

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

2482 / 2482

position of stopcodon in wt / mu cDNA

7544 / 7544

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

99 / 99

chromosome

strand

-1

last intron/exon boundary

7314

theoretical NMD boundary in CDS

7165

length of CDS

7446

coding sequence (CDS) position

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

119

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

930

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

88535064

original gDNA sequence snippet

ATGCCACCTAATATAAACTGGAAAGAAATAATGAAAGTTGA

altered gDNA sequence snippet

ATGCCACCTAATATAAACTGTAAAGAAATAATGAAAGTTGA

original cDNA sequence snippet

ATGCCACCTAATATAAACTGGAAAGAAATAATGAAAGTTGA

altered cDNA sequence snippet

ATGCCACCTAATATAAACTGTAAAGAAATAATGAAAGTTGA

wildtype AA sequence

MPPNINWKEI MKVDPDDLPR QEELADNLLI SLSKVEVNEL KSEKQENVIH LFRITQSLMK
MKAQEVELAL EEVEKAGEEQ AKFENQLKTK VMKLENELEM AQQSAGGRDT RFLRNEICQL
EKQLEQKDRE LEDMEKELEK EKKVNEQLAL RNEEAENENS KLRRENKRLK KKNEQLCQDI
IDYQKQIDSQ KETLLSRRGE DSDYRSQLSK KNYELIQYLD EIQTLTEANE KIEVQNQEMR
KNLEESVQEM EKMTDEYNRM KAIVHQTDNV IDQLKKENDH YQLQVQELTD LLKSKNEEDD
PIMVAVNAKV EEWKLILSSK DDEIIEYQQM LHNLREKLKN AQLDADKSNV MALQQGIQER
DSQIKMLTEQ VEQYTKEMEK NTCIIEDLKN ELQRNKGAST LSQQTHMKIQ STLDILKEKT
KEAERTAELA EADAREKDKE LVEALKRLKD YESGVYGLED AVVEIKNCKN QIKIRDREIE
ILTKEINKLE LKISDFLDEN EALRERVGLE PKTMIDLTEF RNSKHLKQQQ YRAENQILLK
EASIESLEEE RLDLKKKIRQ MAQERGKRSA TSGLTTEDLN LTENISQGDR ISERKLDLLS
LKNMSEAQSK NEFLSRELIE KERDLERSRT VIAKFQNKLK ELVEENKQLE EGMKEILQAI
KEMQKDPDVK GGETSLIIPS LERLVNAIES KNAEGIFDAS LHLKAQVDQL TGRNEELRQE
LRESRKEAIN YSQQLAKANL KIDHLEKETS LLRQSEGSNV VFKGIDLPDG IAPSSASIIN
SQNEYLIHLL QELENKEKKL KNLEDSLEDY NRKFAVIRHQ QSLLYKEYLS EKETWKTESK
TIKEEKRKLE DQVQQDAIKV KEYNNLLNAL QMDSDEMKKI LAENSRKITV LQVNEKSLIR
QYTTLVELER QLRKENEKQK NELLSMEAEV CEKIGCLQRF KEMAIFKIAA LQKVVDNSVS
LSELELANKQ YNELTAKYRD ILQKDNMLVQ RTSNLEHLEC ENISLKEQVE SINKELEITK
EKLHTIEQAW EQETKLGNES SMDKAKKSIT NSDIVSISKK ITMLEMKELN ERQRAEHCQK
MYEHLRTSLK QMEERNFELE TKFAELTKIN LDAQKVEQML RDELADSVSK AVSDADRQRI
LELEKNEMEL KVEVSKLREI SDIARRQVEI LNAQQQSRDK EVESLRMQLL DYQAQSDEKS
LIAKLHQHNV SLQLSEATAL GKLESITSKL QKMEAYNLRL EQKLDEKEQA LYYARLEGRN
RAKHLRQTIQ SLRRQFSGAL PLAQQEKFSK TMIQLQNDKL KIMQEMKNSQ QEHRNMENKT
LEMELKLKGL EELISTLKDT KGAQKVINWH MKIEELRLQE LKLNRELVKD KEEIKYLNNI
ISEYERTISS LEEEIVQQNK FHEERQMAWD QREVDLERQL DIFDRQQNEI LNAAQKFEEA
TGSIPDPSLP LPNQLEIALR KIKENIRIIL ETRATCKSLE EKLKEKESAL RLAEQNILSR
DKVINELRLR LPATAEREKL IAELGRKEME PKSHHTLKIA HQTIANMQAR LNQKEEVLKK
YQRLLEKARE EQREIVKKHE EDLHILHHRL ELQADSSLNK FKQTAWDLMK QSPTPVPTNK
HFIRLAEMEQ TVAEQDDSLS SLLVKLKKVS QDLERQREIT ELKVKEFENI KLQLQENHED
EVKKVKAEVE DLKYLLDQSQ KESQCLKSEL QAQKEANSRA PTTTMRNLVE RLKSQLALKE
KQQKALSRAL LELRAEMTAA AEERIISATS QKEAHLNVQQ IVDRHTRELK TQVEDLNENL
LKLKEALKTS KNRENSLTDN LNDLNNELQK KQKAYNKILR EKEEIDQEND ELKRQIKRLT
SGLQGKPLTD NKQSLIEELQ RKVKKLENQL EGKVEEVDLK PMKEKNAKEE LIRWEEGKKW
QAKIEGIRNK LKEKEGEVFT LTKQLNTLKD LFAKADKEKL TLQRKLKTTG MTVDQVLGIR
ALESEKELEE LKKRNLDLEN DILYMRAHQA LPRDSVVEDL HLQNRYLQEK LHALEKQFSK
DTYSKPSISG IESDDHCQRE QELQKENLKL SSENIELKFQ LEQANKDLPR LKNQVRDLKE
MCEFLKKEKA EVQRKLGHVR GSGRSGKTIP ELEKTIGLMK KVVEKVQREN EQLKKASGIL
TSEKMANIEQ ENEKLKAELE KLKAHLGHQL SMHYESKTKG TEKIIAENER LRKELKKETD
AAEKLRIAKN NLEILNEKMT VQLEETGKRL QFAESRGPQL EGADSKSWKS IVVTRMYETK
LKELETDIAK KNQSITDLKQ LVKEATEREQ KVNKYNEDLE QQIKILKHVP EGAETEQGLK
RELQVLRLAN HQLDKEKAEL IHQIEANKDQ SGAESTIPDA DQLKEKIKDL ETQLKMSDLE
KQHLKEEIKK LKKELENFDP SFFEEIEDLK YNYKEEVKKN ILLEEKVKKL SEQLGVELTS
PVAASEEFED EEESPVNFPI Y*

mutated AA sequence

MPPNINCKEI MKVDPDDLPR QEELADNLLI SLSKVEVNEL KSEKQENVIH LFRITQSLMK
MKAQEVELAL EEVEKAGEEQ AKFENQLKTK VMKLENELEM AQQSAGGRDT RFLRNEICQL
EKQLEQKDRE LEDMEKELEK EKKVNEQLAL RNEEAENENS KLRRENKRLK KKNEQLCQDI
IDYQKQIDSQ KETLLSRRGE DSDYRSQLSK KNYELIQYLD EIQTLTEANE KIEVQNQEMR
KNLEESVQEM EKMTDEYNRM KAIVHQTDNV IDQLKKENDH YQLQVQELTD LLKSKNEEDD
PIMVAVNAKV EEWKLILSSK DDEIIEYQQM LHNLREKLKN AQLDADKSNV MALQQGIQER
DSQIKMLTEQ VEQYTKEMEK NTCIIEDLKN ELQRNKGAST LSQQTHMKIQ STLDILKEKT
KEAERTAELA EADAREKDKE LVEALKRLKD YESGVYGLED AVVEIKNCKN QIKIRDREIE
ILTKEINKLE LKISDFLDEN EALRERVGLE PKTMIDLTEF RNSKHLKQQQ YRAENQILLK
EASIESLEEE RLDLKKKIRQ MAQERGKRSA TSGLTTEDLN LTENISQGDR ISERKLDLLS
LKNMSEAQSK NEFLSRELIE KERDLERSRT VIAKFQNKLK ELVEENKQLE EGMKEILQAI
KEMQKDPDVK GGETSLIIPS LERLVNAIES KNAEGIFDAS LHLKAQVDQL TGRNEELRQE
LRESRKEAIN YSQQLAKANL KIDHLEKETS LLRQSEGSNV VFKGIDLPDG IAPSSASIIN
SQNEYLIHLL QELENKEKKL KNLEDSLEDY NRKFAVIRHQ QSLLYKEYLS EKETWKTESK
TIKEEKRKLE DQVQQDAIKV KEYNNLLNAL QMDSDEMKKI LAENSRKITV LQVNEKSLIR
QYTTLVELER QLRKENEKQK NELLSMEAEV CEKIGCLQRF KEMAIFKIAA LQKVVDNSVS
LSELELANKQ YNELTAKYRD ILQKDNMLVQ RTSNLEHLEC ENISLKEQVE SINKELEITK
EKLHTIEQAW EQETKLGNES SMDKAKKSIT NSDIVSISKK ITMLEMKELN ERQRAEHCQK
MYEHLRTSLK QMEERNFELE TKFAELTKIN LDAQKVEQML RDELADSVSK AVSDADRQRI
LELEKNEMEL KVEVSKLREI SDIARRQVEI LNAQQQSRDK EVESLRMQLL DYQAQSDEKS
LIAKLHQHNV SLQLSEATAL GKLESITSKL QKMEAYNLRL EQKLDEKEQA LYYARLEGRN
RAKHLRQTIQ SLRRQFSGAL PLAQQEKFSK TMIQLQNDKL KIMQEMKNSQ QEHRNMENKT
LEMELKLKGL EELISTLKDT KGAQKVINWH MKIEELRLQE LKLNRELVKD KEEIKYLNNI
ISEYERTISS LEEEIVQQNK FHEERQMAWD QREVDLERQL DIFDRQQNEI LNAAQKFEEA
TGSIPDPSLP LPNQLEIALR KIKENIRIIL ETRATCKSLE EKLKEKESAL RLAEQNILSR
DKVINELRLR LPATAEREKL IAELGRKEME PKSHHTLKIA HQTIANMQAR LNQKEEVLKK
YQRLLEKARE EQREIVKKHE EDLHILHHRL ELQADSSLNK FKQTAWDLMK QSPTPVPTNK
HFIRLAEMEQ TVAEQDDSLS SLLVKLKKVS QDLERQREIT ELKVKEFENI KLQLQENHED
EVKKVKAEVE DLKYLLDQSQ KESQCLKSEL QAQKEANSRA PTTTMRNLVE RLKSQLALKE
KQQKALSRAL LELRAEMTAA AEERIISATS QKEAHLNVQQ IVDRHTRELK TQVEDLNENL
LKLKEALKTS KNRENSLTDN LNDLNNELQK KQKAYNKILR EKEEIDQEND ELKRQIKRLT
SGLQGKPLTD NKQSLIEELQ RKVKKLENQL EGKVEEVDLK PMKEKNAKEE LIRWEEGKKW
QAKIEGIRNK LKEKEGEVFT LTKQLNTLKD LFAKADKEKL TLQRKLKTTG MTVDQVLGIR
ALESEKELEE LKKRNLDLEN DILYMRAHQA LPRDSVVEDL HLQNRYLQEK LHALEKQFSK
DTYSKPSISG IESDDHCQRE QELQKENLKL SSENIELKFQ LEQANKDLPR LKNQVRDLKE
MCEFLKKEKA EVQRKLGHVR GSGRSGKTIP ELEKTIGLMK KVVEKVQREN EQLKKASGIL
TSEKMANIEQ ENEKLKAELE KLKAHLGHQL SMHYESKTKG TEKIIAENER LRKELKKETD
AAEKLRIAKN NLEILNEKMT VQLEETGKRL QFAESRGPQL EGADSKSWKS IVVTRMYETK
LKELETDIAK KNQSITDLKQ LVKEATEREQ KVNKYNEDLE QQIKILKHVP EGAETEQGLK
RELQVLRLAN HQLDKEKAEL IHQIEANKDQ SGAESTIPDA DQLKEKIKDL ETQLKMSDLE
KQHLKEEIKK LKKELENFDP SFFEEIEDLK YNYKEEVKKN ILLEEKVKKL SEQLGVELTS
PVAASEEFED EEESPVNFPI Y*

speed

1.11 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems