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: ENST00000220616
Querying Taster for transcript #2: ENST00000377869
MT speed 1.72 s - this script 3.705787 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
TG	polymorphism_automatic	4.54956413986629e-07	simple_aae				D1312G	single base exchange	rs2069556		show file
TG	polymorphism_automatic	4.54956413986629e-07	simple_aae				D1312G	single base exchange	rs2069556		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999545043586 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr8:133920518A>GN/A show variant in all transcripts IGV

HGNC symbol

Ensembl transcript ID

ENST00000220616

Genbank transcript ID

NM_003235

UniProt peptide

P01266

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3935A>G
cDNA.3975A>G
g.41316A>G

AA changes

D1312G Score: 94 explain score(s)

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

1312

frameshift

known variant

Reference ID: rs2069556

database	homozygous (G/G)	heterozygous	allele carriers
1000G	527	943	1470
ExAC	21204	-9641	11563

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H2AZ, Histone, Histone 2A variant Z

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.152	0.36
	1.865	0.423
(flanking)	0.599	0.413

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1312

mutated

not conserved

1312

Ptroglodytes

not conserved

ENSPTRG00000020599

312

Mmulatta

no homologue

Fcatus

not conserved

ENSFCAG00000011954

391

Mmusculus

not conserved

ENSMUSG00000053469

1313

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000020084

1293

Dmelanogaster

no homologue

Celegans

no alignment

F55F3.2

n/a

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

8307 / 8307

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

2769 / 2769

position of stopcodon in wt / mu cDNA

8347 / 8347

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

41 / 41

chromosome

strand

last intron/exon boundary

8229

theoretical NMD boundary in CDS

8138

length of CDS

8307

coding sequence (CDS) position

3935

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

3975

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

41316

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

133920518

original gDNA sequence snippet

GTGCAGTGCTGACTACGCGGATTTGCTGCAGACTTTCCAGG

altered gDNA sequence snippet

GTGCAGTGCTGACTACGCGGGTTTGCTGCAGACTTTCCAGG

original cDNA sequence snippet

GTGCAGTGCTGACTACGCGGATTTGCTGCAGACTTTCCAGG

altered cDNA sequence snippet

GTGCAGTGCTGACTACGCGGGTTTGCTGCAGACTTTCCAGG

wildtype AA sequence

MALVLEIFTL LASICWVSAN IFEYQVDAQP LRPCELQRET AFLKQADYVP QCAEDGSFQT
VQCQNDGRSC WCVGANGSEV LGSRQPGRPV ACLSFCQLQK QQILLSGYIN STDTSYLPQC
QDSGDYAPVQ CDVQQVQCWC VDAEGMEVYG TRQLGRPKRC PRSCEIRNRR LLHGVGDKSP
PQCSAEGEFM PVQCKFVNTT DMMIFDLVHS YNRFPDAFVT FSSFQRRFPE VSGYCHCADS
QGRELAETGL ELLLDEIYDT IFAGLDLPST FTETTLYRIL QRRFLAVQSV ISGRFRCPTK
CEVERFTATS FGHPYVPSCR RNGDYQAVQC QTEGPCWCVD AQGKEMHGTR QQGEPPSCAE
GQSCASERQQ ALSRLYFGTS GYFSQHDLFS SPEKRWASPR VARFATSCPP TIKELFVDSG
LLRPMVEGQS QQFSVSENLL KEAIRAIFPS RGLARLALQF TTNPKRLQQN LFGGKFLVNV
GQFNLSGALG TRGTFNFSQF FQQLGLASFL NGGRQEDLAK PLSVGLDSNS STGTPEAAKK
DGTMNKPTVG SFGFEINLQE NQNALKFLAS LLELPEFLLF LQHAISVPED VARDLGDVME
TVLSSQTCEQ TPERLFVPSC TTEGSYEDVQ CFSGECWCVN SWGKELPGSR VRGGQPRCPT
DCEKQRARMQ SLMGSQPAGS TLFVPACTSE GHFLPVQCFN SECYCVDAEG QAIPGTRSAI
GKPKKCPTPC QLQSEQAFLR TVQALLSNSS MLPTLSDTYI PQCSTDGQWR QVQCNGPPEQ
VFELYQRWEA QNKGQDLTPA KLLVKIMSYR EAASGNFSLF IQSLYEAGQQ DVFPVLSQYP
SLQDVPLAAL EGKRPQPREN ILLEPYLFWQ ILNGQLSQYP GSYSDFSTPL AHFDLRNCWC
VDEAGQELEG MRSEPSKLPT CPGSCEEAKL RVLQFIRETE EIVSASNSSR FPLGESFLVA
KGIRLRNEDL GLPPLFPPRE AFAEQFLRGS DYAIRLAAQS TLSFYQRRRF SPDDSAGASA
LLRSGPYMPQ CDAFGSWEPV QCHAGTGHCW CVDEKGGFIP GSLTARSLQI PQCPTTCEKS
RTSGLLSSWK QARSQENPSP KDLFVPACLE TGEYARLQAS GAGTWCVDPA SGEELRPGSS
SSAQCPSLCN VLKSGVLSRR VSPGYVPACR AEDGGFSPVQ CDQAQGSCWC VMDSGEEVPG
TRVTGGQPAC ESPRCPLPFN ASEVVGGTIL CETISGPTGS AMQQCQLLCR QGSWSVFPPG
PLICSLESGR WESQLPQPRA CQRPQLWQTI QTQGHFQLQL PPGKMCSADY ADLLQTFQVF
ILDELTARGF CQIQVKTFGT LVSIPVCNNS SVQVGCLTRE RLGVNVTWKS RLEDIPVASL
PDLHDIERAL VGKDLLGRFT DLIQSGSFQL HLDSKTFPAE TIRFLQGDHF GTSPRTWFGC
SEGFYQVLTS EASQDGLGCV KCPEGSYSQD EECIPCPVGF YQEQAGSLAC VPCPVGRTTI
SAGAFSQTHC VTDCQRNEAG LQCDQNGQYR ASQKDRGSGK AFCVDGEGRR LPWWETEAPL
EDSQCLMMQK FEKVPESKVI FDANAPVAVR SKVPDSEFPV MQCLTDCTED EACSFFTVST
TEPEISCDFY AWTSDNVACM TSDQKRDALG NSKATSFGSL RCQVKVRSHG QDSPAVYLKK
GQGSTTTLQK RFEPTGFQNM LSGLYNPIVF SASGANLTDA HLFCLLACDR DLCCDGFVLT
QVQGGAIICG LLSSPSVLLC NVKDWMDPSE AWANATCPGV TYDQESHQVI LRLGDQEFIK
SLTPLEGTQD TFTNFQQVYL WKDSDMGSRP ESMGCRKDTV PRPASPTEAG LTTELFSPVD
LNQVIVNGNQ SLSSQKHWLF KHLFSAQQAN LWCLSRCVQE HSFCQLAEIT ESASLYFTCT
LYPEAQVCDD IMESNAQGCR LILPQMPKAL FRKKVILEDK VKNFYTRLPF QKLMGISIRN
KVPMSEKSIS NGFFECERRC DADPCCTGFG FLNVSQLKGG EVTCLTLNSL GIQMCSEENG
GAWRILDCGS PDIEVHTYPF GWYQKPIAQN NAPSFCPLVV LPSLTEKVSL DSWQSLALSS
VVVDPSIRHF DVAHVSTAAT SNFSAVRDLC LSECSQHEAC LITTLQTQPG AVRCMFYADT
QSCTHSLQGQ NCRLLLREEA THIYRKPGIS LLSYEASVPS VPISTHGRLL GRSQAIQVGT
SWKQVDQFLG VPYAAPPLAE RRFQAPEPLN WTGSWDASKP RASCWQPGTR TSTSPGVSED
CLYLNVFIPQ NVAPNASVLV FFHNTMDREE SEGWPAIDGS FLAAVGNLIV VTASYRVGVF
GFLSSGSGEV SGNWGLLDQV AALTWVQTHI RGFGGDPRRV SLAADRGGAD VASIHLLTAR
ATNSQLFRRA VLMGGSALSP AAVISHERAQ QQAIALAKEV SCPMSSSQEV VSCLRQKPAN
VLNDAQTKLL AVSGPFHYWG PVIDGHFLRE PPARALKRSL WVEVDLLIGS SQDDGLINRA
KAVKQFEESR GRTSSKTAFY QALQNSLGGE DSDARVEAAA TWYYSLEHST DDYASFSRAL
ENATRDYFII CPIIDMASAW AKRARGNVFM YHAPENYGHG SLELLADVQF ALGLPFYPAY
EGQFSLEEKS LSLKIMQYFS HFIRSGNPNY PYEFSRKVPT FATPWPDFVP RAGGENYKEF
SELLPNRQGL KKADCSFWSK YISSLKTSAD GAKGGQSAES EEEELTAGSG LREDLLSLQE
PGSKTYSK*

mutated AA sequence

MALVLEIFTL LASICWVSAN IFEYQVDAQP LRPCELQRET AFLKQADYVP QCAEDGSFQT
VQCQNDGRSC WCVGANGSEV LGSRQPGRPV ACLSFCQLQK QQILLSGYIN STDTSYLPQC
QDSGDYAPVQ CDVQQVQCWC VDAEGMEVYG TRQLGRPKRC PRSCEIRNRR LLHGVGDKSP
PQCSAEGEFM PVQCKFVNTT DMMIFDLVHS YNRFPDAFVT FSSFQRRFPE VSGYCHCADS
QGRELAETGL ELLLDEIYDT IFAGLDLPST FTETTLYRIL QRRFLAVQSV ISGRFRCPTK
CEVERFTATS FGHPYVPSCR RNGDYQAVQC QTEGPCWCVD AQGKEMHGTR QQGEPPSCAE
GQSCASERQQ ALSRLYFGTS GYFSQHDLFS SPEKRWASPR VARFATSCPP TIKELFVDSG
LLRPMVEGQS QQFSVSENLL KEAIRAIFPS RGLARLALQF TTNPKRLQQN LFGGKFLVNV
GQFNLSGALG TRGTFNFSQF FQQLGLASFL NGGRQEDLAK PLSVGLDSNS STGTPEAAKK
DGTMNKPTVG SFGFEINLQE NQNALKFLAS LLELPEFLLF LQHAISVPED VARDLGDVME
TVLSSQTCEQ TPERLFVPSC TTEGSYEDVQ CFSGECWCVN SWGKELPGSR VRGGQPRCPT
DCEKQRARMQ SLMGSQPAGS TLFVPACTSE GHFLPVQCFN SECYCVDAEG QAIPGTRSAI
GKPKKCPTPC QLQSEQAFLR TVQALLSNSS MLPTLSDTYI PQCSTDGQWR QVQCNGPPEQ
VFELYQRWEA QNKGQDLTPA KLLVKIMSYR EAASGNFSLF IQSLYEAGQQ DVFPVLSQYP
SLQDVPLAAL EGKRPQPREN ILLEPYLFWQ ILNGQLSQYP GSYSDFSTPL AHFDLRNCWC
VDEAGQELEG MRSEPSKLPT CPGSCEEAKL RVLQFIRETE EIVSASNSSR FPLGESFLVA
KGIRLRNEDL GLPPLFPPRE AFAEQFLRGS DYAIRLAAQS TLSFYQRRRF SPDDSAGASA
LLRSGPYMPQ CDAFGSWEPV QCHAGTGHCW CVDEKGGFIP GSLTARSLQI PQCPTTCEKS
RTSGLLSSWK QARSQENPSP KDLFVPACLE TGEYARLQAS GAGTWCVDPA SGEELRPGSS
SSAQCPSLCN VLKSGVLSRR VSPGYVPACR AEDGGFSPVQ CDQAQGSCWC VMDSGEEVPG
TRVTGGQPAC ESPRCPLPFN ASEVVGGTIL CETISGPTGS AMQQCQLLCR QGSWSVFPPG
PLICSLESGR WESQLPQPRA CQRPQLWQTI QTQGHFQLQL PPGKMCSADY AGLLQTFQVF
ILDELTARGF CQIQVKTFGT LVSIPVCNNS SVQVGCLTRE RLGVNVTWKS RLEDIPVASL
PDLHDIERAL VGKDLLGRFT DLIQSGSFQL HLDSKTFPAE TIRFLQGDHF GTSPRTWFGC
SEGFYQVLTS EASQDGLGCV KCPEGSYSQD EECIPCPVGF YQEQAGSLAC VPCPVGRTTI
SAGAFSQTHC VTDCQRNEAG LQCDQNGQYR ASQKDRGSGK AFCVDGEGRR LPWWETEAPL
EDSQCLMMQK FEKVPESKVI FDANAPVAVR SKVPDSEFPV MQCLTDCTED EACSFFTVST
TEPEISCDFY AWTSDNVACM TSDQKRDALG NSKATSFGSL RCQVKVRSHG QDSPAVYLKK
GQGSTTTLQK RFEPTGFQNM LSGLYNPIVF SASGANLTDA HLFCLLACDR DLCCDGFVLT
QVQGGAIICG LLSSPSVLLC NVKDWMDPSE AWANATCPGV TYDQESHQVI LRLGDQEFIK
SLTPLEGTQD TFTNFQQVYL WKDSDMGSRP ESMGCRKDTV PRPASPTEAG LTTELFSPVD
LNQVIVNGNQ SLSSQKHWLF KHLFSAQQAN LWCLSRCVQE HSFCQLAEIT ESASLYFTCT
LYPEAQVCDD IMESNAQGCR LILPQMPKAL FRKKVILEDK VKNFYTRLPF QKLMGISIRN
KVPMSEKSIS NGFFECERRC DADPCCTGFG FLNVSQLKGG EVTCLTLNSL GIQMCSEENG
GAWRILDCGS PDIEVHTYPF GWYQKPIAQN NAPSFCPLVV LPSLTEKVSL DSWQSLALSS
VVVDPSIRHF DVAHVSTAAT SNFSAVRDLC LSECSQHEAC LITTLQTQPG AVRCMFYADT
QSCTHSLQGQ NCRLLLREEA THIYRKPGIS LLSYEASVPS VPISTHGRLL GRSQAIQVGT
SWKQVDQFLG VPYAAPPLAE RRFQAPEPLN WTGSWDASKP RASCWQPGTR TSTSPGVSED
CLYLNVFIPQ NVAPNASVLV FFHNTMDREE SEGWPAIDGS FLAAVGNLIV VTASYRVGVF
GFLSSGSGEV SGNWGLLDQV AALTWVQTHI RGFGGDPRRV SLAADRGGAD VASIHLLTAR
ATNSQLFRRA VLMGGSALSP AAVISHERAQ QQAIALAKEV SCPMSSSQEV VSCLRQKPAN
VLNDAQTKLL AVSGPFHYWG PVIDGHFLRE PPARALKRSL WVEVDLLIGS SQDDGLINRA
KAVKQFEESR GRTSSKTAFY QALQNSLGGE DSDARVEAAA TWYYSLEHST DDYASFSRAL
ENATRDYFII CPIIDMASAW AKRARGNVFM YHAPENYGHG SLELLADVQF ALGLPFYPAY
EGQFSLEEKS LSLKIMQYFS HFIRSGNPNY PYEFSRKVPT FATPWPDFVP RAGGENYKEF
SELLPNRQGL KKADCSFWSK YISSLKTSAD GAKGGQSAES EEEELTAGSG LREDLLSLQE
PGSKTYSK*

speed

0.84 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

polymorphism

Model: simple_aae, prob: 0.999999545043586 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr8:133920518A>GN/A show variant in all transcripts IGV

HGNC symbol

Ensembl transcript ID

ENST00000377869

Genbank transcript ID

N/A

UniProt peptide

P01266

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3935A>G
cDNA.3976A>G
g.41316A>G

AA changes

D1312G Score: 94 explain score(s)

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

1312

frameshift

known variant

Reference ID: rs2069556

database	homozygous (G/G)	heterozygous	allele carriers
1000G	527	943	1470
ExAC	21204	-9641	11563

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H2AZ, Histone, Histone 2A variant Z

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.152	0.36
	1.865	0.423
(flanking)	0.599	0.413

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1312

mutated

not conserved

1312

Ptroglodytes

not conserved

ENSPTRG00000020599

312

Mmulatta

no homologue

Fcatus

not conserved

ENSFCAG00000011954

391

Mmusculus

not conserved

ENSMUSG00000053469

1313

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000020084

1293

Dmelanogaster

no homologue

Celegans

no alignment

F55F3.2

n/a

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

8136 / 8136

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

2712 / 2712

position of stopcodon in wt / mu cDNA

8177 / 8177

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

42 / 42

chromosome

strand

last intron/exon boundary

8059

theoretical NMD boundary in CDS

7967

length of CDS

8136

coding sequence (CDS) position

3935

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

3976

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

41316

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

133920518

original gDNA sequence snippet

GTGCAGTGCTGACTACGCGGATTTGCTGCAGACTTTCCAGG

altered gDNA sequence snippet

GTGCAGTGCTGACTACGCGGGTTTGCTGCAGACTTTCCAGG

original cDNA sequence snippet

GTGCAGTGCTGACTACGCGGATTTGCTGCAGACTTTCCAGG

altered cDNA sequence snippet

GTGCAGTGCTGACTACGCGGGTTTGCTGCAGACTTTCCAGG

wildtype AA sequence

MALVLEIFTL LASICWVSAN IFEYQVDAQP LRPCELQRET AFLKQADYVP QCAEDGSFQT
VQCQNDGRSC WCVGANGSEV LGSRQPGRPV ACLSFCQLQK QQILLSGYIN STDTSYLPQC
QDSGDYAPVQ CDVQQVQCWC VDAEGMEVYG TRQLGRPKRC PRSCEIRNRR LLHGVGDKSP
PQCSAEGEFM PVQCKFVNTT DMMIFDLVHS YNRFPDAFVT FSSFQRRFPE VSGYCHCADS
QGRELAETGL ELLLDEIYDT IFAGLDLPST FTETTLYRIL QRRFLAVQSV ISGRFRCPTK
CEVERFTATS FGHPYVPSCR RNGDYQAVQC QTEGPCWCVD AQGKEMHGTR QQGEPPSCAE
GQSCASERQQ ALSRLYFGTS GYFSQHDLFS SPEKRWASPR VARFATSCPP TIKELFVDSG
LLRPMVEGQS QQFSVSENLL KEAIRAIFPS RGLARLALQF TTNPKRLQQN LFGGKFLVNV
GQFNLSGALG TRGTFNFSQF FQQLGLASFL NGGRQEDLAK PLSVGLDSNS STGTPEAAKK
DGTMNKPTVG SFGFEINLQE NQNALKFLAS LLELPEFLLF LQHAISVPED VARDLGDVME
TVLSSQTCEQ TPERLFVPSC TTEGSYEDVQ CFSGECWCVN SWGKELPGSR VRGGQPRCPT
DCEKQRARMQ SLMGSQPAGS TLFVPACTSE GHFLPVQCFN SECYCVDAEG QAIPGTRSAI
GKPKKCPTPC QLQSEQAFLR TVQALLSNSS MLPTLSDTYI PQCSTDGQWR QVQCNGPPEQ
VFELYQRWEA QNKGQDLTPA KLLVKIMSYR EAASGNFSLF IQSLYEAGQQ DVFPVLSQYP
SLQDVPLAAL EGKRPQPREN ILLEPYLFWQ ILNGQLSQYP GSYSDFSTPL AHFDLRNCWC
VDEAGQELEG MRSEPSKLPT CPGSCEEAKL RVLQFIRETE EIVSASNSSR FPLGESFLVA
KGIRLRNEDL GLPPLFPPRE AFAEQFLRGS DYAIRLAAQS TLSFYQRRRF SPDDSAGASA
LLRSGPYMPQ CDAFGSWEPV QCHAGTGHCW CVDEKGGFIP GSLTARSLQI PQCPTTCEKS
RTSGLLSSWK QARSQENPSP KDLFVPACLE TGEYARLQAS GAGTWCVDPA SGEELRPGSS
SSAQCPSLCN VLKSGVLSRR VSPGYVPACR AEDGGFSPVQ CDQAQGSCWC VMDSGEEVPG
TRVTGGQPAC ESPRCPLPFN ASEVVGGTIL CETISGPTGS AMQQCQLLCR QGSWSVFPPG
PLICSLESGR WESQLPQPRA CQRPQLWQTI QTQGHFQLQL PPGKMCSADY ADLLQTFQVF
ILDELTARGF CQIQVKTFGT LVSIPVCNNS SVQVGCLTRE RLGVNVTWKS RLEDIPVASL
PDLHDIERAL VGKDLLGRFT DLIQSGSFQL HLDSKTFPAE TIRFLQGDHF GTSPRTWFGC
SEGFYQVLTS EASQDGLGCV KCPEGSYSQD EECIPCPVGF YQEQAGSLAC VPCPVGRTTI
SAGAFSQTHL MQKFEKVPES KVIFDANAPV AVRSKVPDSE FPVMQCLTDC TEDEACSFFT
VSTTEPEISC DFYAWTSDNV ACMTSDQKRD ALGNSKATSF GSLRCQVKVR SHGQDSPAVY
LKKGQGSTTT LQKRFEPTGF QNMLSGLYNP IVFSASGANL TDAHLFCLLA CDRDLCCDGF
VLTQVQGGAI ICGLLSSPSV LLCNVKDWMD PSEAWANATC PGVTYDQESH QVILRLGDQE
FIKSLTPLEG TQDTFTNFQQ VYLWKDSDMG SRPESMGCRK DTVPRPASPT EAGLTTELFS
PVDLNQVIVN GNQSLSSQKH WLFKHLFSAQ QANLWCLSRC VQEHSFCQLA EITESASLYF
TCTLYPEAQV CDDIMESNAQ GCRLILPQMP KALFRKKVIL EDKVKNFYTR LPFQKLMGIS
IRNKVPMSEK SISNGFFECE RRCDADPCCT GFGFLNVSQL KGGEVTCLTL NSLGIQMCSE
ENGGAWRILD CGSPDIEVHT YPFGWYQKPI AQNNAPSFCP LVVLPSLTEK VSLDSWQSLA
LSSVVVDPSI RHFDVAHVST AATSNFSAVR DLCLSECSQH EACLITTLQT QPGAVRCMFY
ADTQSCTHSL QGQNCRLLLR EEATHIYRKP GISLLSYEAS VPSVPISTHG RLLGRSQAIQ
VGTSWKQVDQ FLGVPYAAPP LAERRFQAPE PLNWTGSWDA SKPRASCWQP GTRTSTSPGV
SEDCLYLNVF IPQNVAPNAS VLVFFHNTMD REESEGWPAI DGSFLAAVGN LIVVTASYRV
GVFGFLSSGS GEVSGNWGLL DQVAALTWVQ THIRGFGGDP RRVSLAADRG GADVASIHLL
TARATNSQLF RRAVLMGGSA LSPAAVISHE RAQQQAIALA KEVSCPMSSS QEVVSCLRQK
PANVLNDAQT KLLAVSGPFH YWGPVIDGHF LREPPARALK RSLWVEVDLL IGSSQDDGLI
NRAKAVKQFE ESRGRTSSKT AFYQALQNSL GGEDSDARVE AAATWYYSLE HSTDDYASFS
RALENATRDY FIICPIIDMA SAWAKRARGN VFMYHAPENY GHGSLELLAD VQFALGLPFY
PAYEGQFSLE EKSLSLKIMQ YFSHFIRSGN PNYPYEFSRK VPTFATPWPD FVPRAGGENY
KEFSELLPNR QGLKKADCSF WSKYISSLKT SADGAKGGQS AESEEEELTA GSGLREDLLS
LQEPGSKTYS K*

mutated AA sequence

MALVLEIFTL LASICWVSAN IFEYQVDAQP LRPCELQRET AFLKQADYVP QCAEDGSFQT
VQCQNDGRSC WCVGANGSEV LGSRQPGRPV ACLSFCQLQK QQILLSGYIN STDTSYLPQC
QDSGDYAPVQ CDVQQVQCWC VDAEGMEVYG TRQLGRPKRC PRSCEIRNRR LLHGVGDKSP
PQCSAEGEFM PVQCKFVNTT DMMIFDLVHS YNRFPDAFVT FSSFQRRFPE VSGYCHCADS
QGRELAETGL ELLLDEIYDT IFAGLDLPST FTETTLYRIL QRRFLAVQSV ISGRFRCPTK
CEVERFTATS FGHPYVPSCR RNGDYQAVQC QTEGPCWCVD AQGKEMHGTR QQGEPPSCAE
GQSCASERQQ ALSRLYFGTS GYFSQHDLFS SPEKRWASPR VARFATSCPP TIKELFVDSG
LLRPMVEGQS QQFSVSENLL KEAIRAIFPS RGLARLALQF TTNPKRLQQN LFGGKFLVNV
GQFNLSGALG TRGTFNFSQF FQQLGLASFL NGGRQEDLAK PLSVGLDSNS STGTPEAAKK
DGTMNKPTVG SFGFEINLQE NQNALKFLAS LLELPEFLLF LQHAISVPED VARDLGDVME
TVLSSQTCEQ TPERLFVPSC TTEGSYEDVQ CFSGECWCVN SWGKELPGSR VRGGQPRCPT
DCEKQRARMQ SLMGSQPAGS TLFVPACTSE GHFLPVQCFN SECYCVDAEG QAIPGTRSAI
GKPKKCPTPC QLQSEQAFLR TVQALLSNSS MLPTLSDTYI PQCSTDGQWR QVQCNGPPEQ
VFELYQRWEA QNKGQDLTPA KLLVKIMSYR EAASGNFSLF IQSLYEAGQQ DVFPVLSQYP
SLQDVPLAAL EGKRPQPREN ILLEPYLFWQ ILNGQLSQYP GSYSDFSTPL AHFDLRNCWC
VDEAGQELEG MRSEPSKLPT CPGSCEEAKL RVLQFIRETE EIVSASNSSR FPLGESFLVA
KGIRLRNEDL GLPPLFPPRE AFAEQFLRGS DYAIRLAAQS TLSFYQRRRF SPDDSAGASA
LLRSGPYMPQ CDAFGSWEPV QCHAGTGHCW CVDEKGGFIP GSLTARSLQI PQCPTTCEKS
RTSGLLSSWK QARSQENPSP KDLFVPACLE TGEYARLQAS GAGTWCVDPA SGEELRPGSS
SSAQCPSLCN VLKSGVLSRR VSPGYVPACR AEDGGFSPVQ CDQAQGSCWC VMDSGEEVPG
TRVTGGQPAC ESPRCPLPFN ASEVVGGTIL CETISGPTGS AMQQCQLLCR QGSWSVFPPG
PLICSLESGR WESQLPQPRA CQRPQLWQTI QTQGHFQLQL PPGKMCSADY AGLLQTFQVF
ILDELTARGF CQIQVKTFGT LVSIPVCNNS SVQVGCLTRE RLGVNVTWKS RLEDIPVASL
PDLHDIERAL VGKDLLGRFT DLIQSGSFQL HLDSKTFPAE TIRFLQGDHF GTSPRTWFGC
SEGFYQVLTS EASQDGLGCV KCPEGSYSQD EECIPCPVGF YQEQAGSLAC VPCPVGRTTI
SAGAFSQTHL MQKFEKVPES KVIFDANAPV AVRSKVPDSE FPVMQCLTDC TEDEACSFFT
VSTTEPEISC DFYAWTSDNV ACMTSDQKRD ALGNSKATSF GSLRCQVKVR SHGQDSPAVY
LKKGQGSTTT LQKRFEPTGF QNMLSGLYNP IVFSASGANL TDAHLFCLLA CDRDLCCDGF
VLTQVQGGAI ICGLLSSPSV LLCNVKDWMD PSEAWANATC PGVTYDQESH QVILRLGDQE
FIKSLTPLEG TQDTFTNFQQ VYLWKDSDMG SRPESMGCRK DTVPRPASPT EAGLTTELFS
PVDLNQVIVN GNQSLSSQKH WLFKHLFSAQ QANLWCLSRC VQEHSFCQLA EITESASLYF
TCTLYPEAQV CDDIMESNAQ GCRLILPQMP KALFRKKVIL EDKVKNFYTR LPFQKLMGIS
IRNKVPMSEK SISNGFFECE RRCDADPCCT GFGFLNVSQL KGGEVTCLTL NSLGIQMCSE
ENGGAWRILD CGSPDIEVHT YPFGWYQKPI AQNNAPSFCP LVVLPSLTEK VSLDSWQSLA
LSSVVVDPSI RHFDVAHVST AATSNFSAVR DLCLSECSQH EACLITTLQT QPGAVRCMFY
ADTQSCTHSL QGQNCRLLLR EEATHIYRKP GISLLSYEAS VPSVPISTHG RLLGRSQAIQ
VGTSWKQVDQ FLGVPYAAPP LAERRFQAPE PLNWTGSWDA SKPRASCWQP GTRTSTSPGV
SEDCLYLNVF IPQNVAPNAS VLVFFHNTMD REESEGWPAI DGSFLAAVGN LIVVTASYRV
GVFGFLSSGS GEVSGNWGLL DQVAALTWVQ THIRGFGGDP RRVSLAADRG GADVASIHLL
TARATNSQLF RRAVLMGGSA LSPAAVISHE RAQQQAIALA KEVSCPMSSS QEVVSCLRQK
PANVLNDAQT KLLAVSGPFH YWGPVIDGHF LREPPARALK RSLWVEVDLL IGSSQDDGLI
NRAKAVKQFE ESRGRTSSKT AFYQALQNSL GGEDSDARVE AAATWYYSLE HSTDDYASFS
RALENATRDY FIICPIIDMA SAWAKRARGN VFMYHAPENY GHGSLELLAD VQFALGLPFY
PAYEGQFSLE EKSLSLKIMQ YFSHFIRSGN PNYPYEFSRK VPTFATPWPD FVPRAGGENY
KEFSELLPNR QGLKKADCSF WSKYISSLKT SADGAKGGQS AESEEEELTA GSGLREDLLS
LQEPGSKTYS K*

speed

0.88 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems