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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000431842
Querying Taster for transcript #2: ENST00000493960
Querying Taster for transcript #3: ENST00000355628
MT speed 0 s - this script 4.402656 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
TASOR	polymorphism_automatic	4.34496882917301e-12	simple_aae				T609R	single base exchange	rs9835332		show file
TASOR	polymorphism_automatic	4.34496882917301e-12	simple_aae				T1046R	single base exchange	rs9835332		show file
TASOR	polymorphism_automatic	4.34496882917301e-12	simple_aae				T985R	single base exchange	rs9835332		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999995655 (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)

chr3:56667682G>CN/A show variant in all transcripts IGV

HGNC symbol

TASOR

Ensembl transcript ID

ENST00000431842

Genbank transcript ID

NM_015224

UniProt peptide

Q9UK61

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1826C>G
cDNA.2751C>G
g.49584C>G

AA changes

T609R Score: 71 explain score(s)

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

609

frameshift

known variant

Reference ID: rs9835332

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1629	670	2299
ExAC	24225	-15683	8542

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.508	0.026
	-0.127	0.024
(flanking)	0.467	0.125

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 marginally increased	49580	wt: 0.9785 / mu: 0.9952 (marginal change - not scored)	wt: ATGTCAGTACAGTTT mu: ATGTCAGTAGAGTTT	GTCA\|gtac

distance from splice site

190

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

609

mutated

not conserved

609

Ptroglodytes

not conserved

ENSPTRG00000015038

985

Mmulatta

not conserved

ENSMMUG00000002820

960

Fcatus

no alignment

ENSFCAG00000002825

n/a

Mmusculus

not conserved

ENSMUSG00000040651

1029

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000013346

906

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000000923

958

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3702 / 3702

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

1234 / 1234

position of stopcodon in wt / mu cDNA

4627 / 4627

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

926 / 926

chromosome

strand

-1

last intron/exon boundary

4098

theoretical NMD boundary in CDS

3122

length of CDS

3702

coding sequence (CDS) position

1826

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

2751

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

49584

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

56667682

original gDNA sequence snippet

GAATGTTTCATATGTCAGTACAGTTTCCACACCTATCTTTT

altered gDNA sequence snippet

GAATGTTTCATATGTCAGTAGAGTTTCCACACCTATCTTTT

original cDNA sequence snippet

GAATGTTTCATATGTCAGTACAGTTTCCACACCTATCTTTT

altered cDNA sequence snippet

GAATGTTTCATATGTCAGTAGAGTTTCCACACCTATCTTTT

wildtype AA sequence

MSIDHLKQKI PPALFYKETY LGPNEVLKNG MYCSLYEVVE KTRIGSNMES LLQKLDREKL
VLVKPLGDRG YLFLLSPYQM VPPYEYQTAK SRVLHALFLF QEPRSIVTSQ KGSTNAAPQE
RHESMPDVLK IAQFLQFSLI QCRKEFKNIS AINFHSVVEK YVSEFFKRGF GSGKREFIMF
PYDSRLDDKK FLYSAPRNKS HIDTCLHAYI FRPEVYQLPI CKLKELFEEN RKLQQFSPLS
DYEGQEEEMN GTKMKFGKRN NSRGEAIISG KQRSSHSLDY DKDRVKELIN LIQCRKKSVG
GDSDTEDMRS KTVLKRKLED LPENMRKLAK TSNLSENCHL YEESPQPIGS LGHDADLRRQ
QQDTCNSGIA DIHRLFNWLS ETLANARHSD ASLTDTVNKA LGLSTDDAYE ELRQKHEYEL
NSTPDKKDYE QPTCAKVENA QFKGTQSLLL EVDATSKYSV AISTSEVGTD HKLHLKEDPN
LISVNNFEDC SLCPSVPIEH GFRRQQSKSN NVEETEIHWK LIPITGGNAR SPEDQLGKHG
EKQTPDTLKG TTEDDVLTGQ VEEQCVPAAE AEPPAVSETT ERTVLGEYNL FSRKIEEILK
QKNVSYVSTV STPIFSTQEK MKRLSEFIYS KTSKAGVQEF VDGLHEKLNT IIIKASAKGG
NLPPVSPNDS GAKIASNPLE RHVIPVSSSD FNNKHLLEPL CSDPLKDTNS DEQHSTSALT
EVEMNQPQHA TELMVTSDHI VPGDMAREPV EETTKSPSDV NISAQPALSN FISQLEPEVF
NSLVKIMKDV QKNTVKFYIH EEEESVLCKE IKEYLIKLGN TECHPEQFLE RRSKLDKLLI
IIQNEDIAGF IHKIPGLVTL KKLPCVSFAG VDSLDDVKNH TYNELFVSGG FIVSDESILN
PEVVTVENLK NFLTFLEELS TPEGKWQWKV HCKFQKKLKE LGRLNAKALS LLTLLNVYQK
KHLVEILSYH NCDSQTRNAP ELDCLIRLQA QNIQQRHIVF LTEKNIKMLS SYTDNGIVVA
TAEDFMQNFK NLVGYHNSIT EENLPQLGAN ENLESQSALL ENDEKDEEDM SLDSGDEISH
IEVCSNFHSE IWEKETKGSR GTDQKKNTQI ELQSSPDVQN SLLEDKTYLD SEERTSIDIV
CSEGENSNST EQDSYSNFQV YHSQLNMSHQ FSHFNVLTHQ TFLGTPYALS SSQSQENENY
FLSAYTESLD RDKSPPPLSW GKSDSSRPYS QEK*

mutated AA sequence

MSIDHLKQKI PPALFYKETY LGPNEVLKNG MYCSLYEVVE KTRIGSNMES LLQKLDREKL
VLVKPLGDRG YLFLLSPYQM VPPYEYQTAK SRVLHALFLF QEPRSIVTSQ KGSTNAAPQE
RHESMPDVLK IAQFLQFSLI QCRKEFKNIS AINFHSVVEK YVSEFFKRGF GSGKREFIMF
PYDSRLDDKK FLYSAPRNKS HIDTCLHAYI FRPEVYQLPI CKLKELFEEN RKLQQFSPLS
DYEGQEEEMN GTKMKFGKRN NSRGEAIISG KQRSSHSLDY DKDRVKELIN LIQCRKKSVG
GDSDTEDMRS KTVLKRKLED LPENMRKLAK TSNLSENCHL YEESPQPIGS LGHDADLRRQ
QQDTCNSGIA DIHRLFNWLS ETLANARHSD ASLTDTVNKA LGLSTDDAYE ELRQKHEYEL
NSTPDKKDYE QPTCAKVENA QFKGTQSLLL EVDATSKYSV AISTSEVGTD HKLHLKEDPN
LISVNNFEDC SLCPSVPIEH GFRRQQSKSN NVEETEIHWK LIPITGGNAR SPEDQLGKHG
EKQTPDTLKG TTEDDVLTGQ VEEQCVPAAE AEPPAVSETT ERTVLGEYNL FSRKIEEILK
QKNVSYVSRV STPIFSTQEK MKRLSEFIYS KTSKAGVQEF VDGLHEKLNT IIIKASAKGG
NLPPVSPNDS GAKIASNPLE RHVIPVSSSD FNNKHLLEPL CSDPLKDTNS DEQHSTSALT
EVEMNQPQHA TELMVTSDHI VPGDMAREPV EETTKSPSDV NISAQPALSN FISQLEPEVF
NSLVKIMKDV QKNTVKFYIH EEEESVLCKE IKEYLIKLGN TECHPEQFLE RRSKLDKLLI
IIQNEDIAGF IHKIPGLVTL KKLPCVSFAG VDSLDDVKNH TYNELFVSGG FIVSDESILN
PEVVTVENLK NFLTFLEELS TPEGKWQWKV HCKFQKKLKE LGRLNAKALS LLTLLNVYQK
KHLVEILSYH NCDSQTRNAP ELDCLIRLQA QNIQQRHIVF LTEKNIKMLS SYTDNGIVVA
TAEDFMQNFK NLVGYHNSIT EENLPQLGAN ENLESQSALL ENDEKDEEDM SLDSGDEISH
IEVCSNFHSE IWEKETKGSR GTDQKKNTQI ELQSSPDVQN SLLEDKTYLD SEERTSIDIV
CSEGENSNST EQDSYSNFQV YHSQLNMSHQ FSHFNVLTHQ TFLGTPYALS SSQSQENENY
FLSAYTESLD RDKSPPPLSW GKSDSSRPYS QEK*

speed

1.24 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: 0.999999999995655 (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)

chr3:56667682G>CN/A show variant in all transcripts IGV

HGNC symbol

TASOR

Ensembl transcript ID

ENST00000493960

Genbank transcript ID

NM_001112736

UniProt peptide

Q9UK61

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3137C>G
cDNA.3148C>G
g.49584C>G

AA changes

T1046R Score: 71 explain score(s)

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

1046

frameshift

known variant

Reference ID: rs9835332

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1629	670	2299
ExAC	24225	-15683	8542

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.508	0.026
	-0.127	0.024
(flanking)	0.467	0.125

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 marginally increased	49580	wt: 0.9785 / mu: 0.9952 (marginal change - not scored)	wt: ATGTCAGTACAGTTT mu: ATGTCAGTAGAGTTT	GTCA\|gtac

distance from splice site

313

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1046

mutated

not conserved

1046

Ptroglodytes

not conserved

ENSPTRG00000015038

985

Mmulatta

not conserved

ENSMMUG00000002820

960

Fcatus

no alignment

ENSFCAG00000002825

n/a

Mmusculus

not conserved

ENSMUSG00000040651

1031

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000013346

906

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000000923

963

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4539 / 4539

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

1513 / 1513

position of stopcodon in wt / mu cDNA

4550 / 4550

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

12 / 12

chromosome

strand

-1

last intron/exon boundary

4495

theoretical NMD boundary in CDS

4433

length of CDS

4539

coding sequence (CDS) position

3137

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

3148

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

49584

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

56667682

original gDNA sequence snippet

GAATGTTTCATATGTCAGTACAGTTTCCACACCTATCTTTT

altered gDNA sequence snippet

GAATGTTTCATATGTCAGTAGAGTTTCCACACCTATCTTTT

original cDNA sequence snippet

GAATGTTTCATATGTCAGTACAGTTTCCACACCTATCTTTT

altered cDNA sequence snippet

GAATGTTTCATATGTCAGTAGAGTTTCCACACCTATCTTTT

wildtype AA sequence

MATAVETEAC QPTDASWESG GGGDDEMKQA LPELESSQQN GGGGGLNIAE PSGGAGREEN
AGAEAAQSLS HEQPQDSSEA GAAALPRGPE EPERPVRRSF QIPRKSREKK ALFQPLTPGS
REFEDVVNIL HSSYLEPTSV TNFNYRRACL VHNELLEKEF TEKRRELKFD GRLDKELSES
YAFLMVDRYQ VQTICEKGLH VGQSKITILG SPSMGVYLSR YADLLQANPL DTGAMGDVVI
FKIMKGKIKS IYDPMGVKSL ESMLNKSALD PTPKHECHVS KNANRITSLL AYRAYELTQY
YFYEYGFDEL RRRPRHVCPY AVVSFTYKDD IQTPKFVPSS RSNSFNTDRN IDKYNYTLWK
GQLLNKGKLL CYISLRSATR AFLPIKLPEK LDVETVMSID HLKQKIPPAL FYKETYLGPN
EVLKNGMYCS LYEVVEKTRI GSNMESLLQK LDREKLVLVK PLGDRGYLFL LSPYQMVPPY
EYQTAKSRVL HALFLFQEPR SIVTSQKGST NAAPQERHES MPDVLKIAQF LQFSLIQCRK
EFKNISAINF HSVVEKYVSE FFKRGFGSGK REFIMFPYDS RLDDKKFLYS APRNKSHIDT
CLHAYIFRPE VYQLPICKLK ELFEENRKLQ QFSPLSDYEG QEEEMNGTKM KFGKRNNSRG
EAIISGKQRS SHSLDYDKDR VKELINLIQC RKKSVGGDSD TEDMRSKTVL KRKLEDLPEN
MRKLAKTSNL SENCHLYEES PQPIGSLGHD ADLRRQQQDT CNSGIADIHR LFNWLSETLA
NARHSDASLT DTVNKALGLS TDDAYEELRQ KHEYELNSTP DKKDYEQPTC AKVENAQFKG
TQSLLLEVDA TSKYSVAIST SEVGTDHKLH LKEDPNLISV NNFEDCSLCP SVPIEHGFRR
QQSKSNNVEE TEIHWKLIPI TGGNARSPED QLGKHGEKQT PGMKSPEEQL VCVPPQEAFP
NDPRVINRQR SSDYQFPSSP FTDTLKGTTE DDVLTGQVEE QCVPAAEAEP PAVSETTERT
VLGEYNLFSR KIEEILKQKN VSYVSTVSTP IFSTQEKMKR LSEFIYSKTS KAGVQEFVDG
LHEKLNTIII KASAKGGNLP PVSPNDSGAK IASNPLERHV IPVSSSDFNN KHLLEPLCSD
PLKDTNSDEQ HSTSALTEVE MNQPQHATEL MVTSDHIVPG DMAREPVEET TKSPSDVNIS
AQPALSNFIS QLEPEVFNSL VKIMKDVQKN TVKFYIHEEE ESVLCKEIKE YLIKLGNTEC
HPEQFLERRS KLDKLLIIIQ NEDIAGFIHK IPGLVTLKKL PCVSFAGVDS LDDVKNHTYN
ELFVSGGFIV SDESILNPEV VTVENLKNFL TFLEELSTPE GKWQWKVHCK FQKKLKELGR
LNAKALSLLT LLNVYQKKHL VEILSYHNCD SQTRNAPELD CLIRLQAQNI QQRHIVFLTE
KNIKMLSSYT DNGIVVATAE DFMQNFKNLV GYHNSITEEN LPQLGANENL ESQSDAVLTL
TPLELGVGIS QH*

mutated AA sequence

MATAVETEAC QPTDASWESG GGGDDEMKQA LPELESSQQN GGGGGLNIAE PSGGAGREEN
AGAEAAQSLS HEQPQDSSEA GAAALPRGPE EPERPVRRSF QIPRKSREKK ALFQPLTPGS
REFEDVVNIL HSSYLEPTSV TNFNYRRACL VHNELLEKEF TEKRRELKFD GRLDKELSES
YAFLMVDRYQ VQTICEKGLH VGQSKITILG SPSMGVYLSR YADLLQANPL DTGAMGDVVI
FKIMKGKIKS IYDPMGVKSL ESMLNKSALD PTPKHECHVS KNANRITSLL AYRAYELTQY
YFYEYGFDEL RRRPRHVCPY AVVSFTYKDD IQTPKFVPSS RSNSFNTDRN IDKYNYTLWK
GQLLNKGKLL CYISLRSATR AFLPIKLPEK LDVETVMSID HLKQKIPPAL FYKETYLGPN
EVLKNGMYCS LYEVVEKTRI GSNMESLLQK LDREKLVLVK PLGDRGYLFL LSPYQMVPPY
EYQTAKSRVL HALFLFQEPR SIVTSQKGST NAAPQERHES MPDVLKIAQF LQFSLIQCRK
EFKNISAINF HSVVEKYVSE FFKRGFGSGK REFIMFPYDS RLDDKKFLYS APRNKSHIDT
CLHAYIFRPE VYQLPICKLK ELFEENRKLQ QFSPLSDYEG QEEEMNGTKM KFGKRNNSRG
EAIISGKQRS SHSLDYDKDR VKELINLIQC RKKSVGGDSD TEDMRSKTVL KRKLEDLPEN
MRKLAKTSNL SENCHLYEES PQPIGSLGHD ADLRRQQQDT CNSGIADIHR LFNWLSETLA
NARHSDASLT DTVNKALGLS TDDAYEELRQ KHEYELNSTP DKKDYEQPTC AKVENAQFKG
TQSLLLEVDA TSKYSVAIST SEVGTDHKLH LKEDPNLISV NNFEDCSLCP SVPIEHGFRR
QQSKSNNVEE TEIHWKLIPI TGGNARSPED QLGKHGEKQT PGMKSPEEQL VCVPPQEAFP
NDPRVINRQR SSDYQFPSSP FTDTLKGTTE DDVLTGQVEE QCVPAAEAEP PAVSETTERT
VLGEYNLFSR KIEEILKQKN VSYVSRVSTP IFSTQEKMKR LSEFIYSKTS KAGVQEFVDG
LHEKLNTIII KASAKGGNLP PVSPNDSGAK IASNPLERHV IPVSSSDFNN KHLLEPLCSD
PLKDTNSDEQ HSTSALTEVE MNQPQHATEL MVTSDHIVPG DMAREPVEET TKSPSDVNIS
AQPALSNFIS QLEPEVFNSL VKIMKDVQKN TVKFYIHEEE ESVLCKEIKE YLIKLGNTEC
HPEQFLERRS KLDKLLIIIQ NEDIAGFIHK IPGLVTLKKL PCVSFAGVDS LDDVKNHTYN
ELFVSGGFIV SDESILNPEV VTVENLKNFL TFLEELSTPE GKWQWKVHCK FQKKLKELGR
LNAKALSLLT LLNVYQKKHL VEILSYHNCD SQTRNAPELD CLIRLQAQNI QQRHIVFLTE
KNIKMLSSYT DNGIVVATAE DFMQNFKNLV GYHNSITEEN LPQLGANENL ESQSDAVLTL
TPLELGVGIS QH*

speed

0.96 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999995655 (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)

chr3:56667682G>CN/A show variant in all transcripts IGV

HGNC symbol

TASOR

Ensembl transcript ID

ENST00000355628

Genbank transcript ID

N/A

UniProt peptide

Q9UK61

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2954C>G
cDNA.3185C>G
g.49584C>G

AA changes

T985R Score: 71 explain score(s)

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

985

frameshift

known variant

Reference ID: rs9835332

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1629	670	2299
ExAC	24225	-15683	8542

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.508	0.026
	-0.127	0.024
(flanking)	0.467	0.125

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 marginally increased	49580	wt: 0.9785 / mu: 0.9952 (marginal change - not scored)	wt: ATGTCAGTACAGTTT mu: ATGTCAGTAGAGTTT	GTCA\|gtac

distance from splice site

190

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

985

mutated

not conserved

985

Ptroglodytes

not conserved

ENSPTRG00000015038

985

Mmulatta

not conserved

ENSMMUG00000002820

960

Fcatus

no alignment

ENSFCAG00000002825

n/a

Mmusculus

not conserved

ENSMUSG00000040651

1031

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000013346

906

EDL

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000000923

953

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4830 / 4830

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

1610 / 1610

position of stopcodon in wt / mu cDNA

5061 / 5061

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

232 / 232

chromosome

strand

-1

last intron/exon boundary

4532

theoretical NMD boundary in CDS

4250

length of CDS

4830

coding sequence (CDS) position

2954

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

3185

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

49584

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

56667682

original gDNA sequence snippet

GAATGTTTCATATGTCAGTACAGTTTCCACACCTATCTTTT

altered gDNA sequence snippet

GAATGTTTCATATGTCAGTAGAGTTTCCACACCTATCTTTT

original cDNA sequence snippet

GAATGTTTCATATGTCAGTACAGTTTCCACACCTATCTTTT

altered cDNA sequence snippet

GAATGTTTCATATGTCAGTAGAGTTTCCACACCTATCTTTT

wildtype AA sequence

MATAVETEAC QPTDASWESG GGGDDEMKQA LPELESSQQN GGGGGLNIAE PSGGAGREEN
AGAEAAQSLS HEQPQDSSEA GAAALPRGPE EPERPVRRSF QIPRKSREKK ALFQPLTPGS
REFEDVVNIL HSSYLEPTSV TNFNYRRACL VHNELLEKEF TEKRRELKFD GRLDKELSES
YAFLMVDRYQ VQTICEKGLH VGQSKITILG SPSMGVYLSR YADLLQANPL DTGAMGDVVI
FKIMKGKIKS IYDPMGVKSL ESMLNKSALD PTPKHECHVS KNANRITSLL AYRAYELTQY
YFYEYGFDEL RRRPRHVCPY AVVSFTYKDD IQTPKFVPSS RSNSFNTDRN IDKYNYTLWK
GQLLNKGKLL CYISLRSATR AFLPIKLPEK LDVETVMSID HLKQKIPPAL FYKETYLGPN
EVLKNGMYCS LYEVVEKTRI GSNMESLLQK LDREKLVLVK PLGDRGYLFL LSPYQMVPPY
EYQTAKSRVL HALFLFQEPR SIVTSQKGST NAAPQERHES MPDVLKIAQF LQFSLIQCRK
EFKNISAINF HSVVEKYVSE FFKRGFGSGK REFIMFPYDS RLDDKKFLYS APRNKSHIDT
CLHAYIFRPE VYQLPICKLK ELFEENRKLQ QFSPLSDYEG QEEEMNGTKM KFGKRNNSRG
EAIISGKQRS SHSLDYDKDR VKELINLIQC RKKSVGGDSD TEDMRSKTVL KRKLEDLPEN
MRKLAKTSNL SENCHLYEES PQPIGSLGHD ADLRRQQQDT CNSGIADIHR LFNWLSETLA
NARHSDASLT DTVNKALGLS TDDAYEELRQ KHEYELNSTP DKKDYEQPTC AKVENAQFKG
TQSLLLEVDA TSKYSVAIST SEVGTDHKLH LKEDPNLISV NNFEDCSLCP SVPIEHGFRR
QQSKSNNVEE TEIHWKLIPI TDTLKGTTED DVLTGQVEEQ CVPAAEAEPP AVSETTERTV
LGEYNLFSRK IEEILKQKNV SYVSTVSTPI FSTQEKMKRL SEFIYSKTSK AGVQEFVDGL
HEKLNTIIIK ASAKGGNLPP VSPNDSGAKI ASNPLERHVI PVSSSDFNNK HLLEPLCSDP
LKDTNSDEQH STSALTEVEM NQPQHATELM VTSDHIVPGD MAREPVEETT KSPSDVNISA
QPALSNFISQ LEPEVFNSLV KIMKDVQKNT VKFYIHEEEE SVLCKEIKEY LIKLGNTECH
PEQFLERRSK LDKLLIIIQN EDIAGFIHKI PGLVTLKKLP CVSFAGVDSL DDVKNHTYNE
LFVSGGFIVS DESILNPEVV TVENLKNFLT FLEELSTPEG KWQWKVHCKF QKKLKELGRL
NAKALSLLTL LNVYQKKHLV EILSYHNCDS QTRNAPELDC LIRLQAQNIQ QRHIVFLTEK
NIKMLSSYTD NGIVVATAED FMQNFKNLVG YHNSITEENL PQLGANENLE SQSALLENDE
KDEEDMSLDS GDEISHIEVC SNFHSEIWEK ETKGSRGTDQ KKNTQIELQS SPDVQNSLLE
DKTYLDSEER TSIDIVCSEG ENSNSTEQDS YSNFQVYHSQ LNMSHQFSHF NVLTHQTFLG
TPYALSSSQS QENENYFLSA YTESLDRDKS PPPLSWGKSD SSRPYSQEK*

mutated AA sequence

MATAVETEAC QPTDASWESG GGGDDEMKQA LPELESSQQN GGGGGLNIAE PSGGAGREEN
AGAEAAQSLS HEQPQDSSEA GAAALPRGPE EPERPVRRSF QIPRKSREKK ALFQPLTPGS
REFEDVVNIL HSSYLEPTSV TNFNYRRACL VHNELLEKEF TEKRRELKFD GRLDKELSES
YAFLMVDRYQ VQTICEKGLH VGQSKITILG SPSMGVYLSR YADLLQANPL DTGAMGDVVI
FKIMKGKIKS IYDPMGVKSL ESMLNKSALD PTPKHECHVS KNANRITSLL AYRAYELTQY
YFYEYGFDEL RRRPRHVCPY AVVSFTYKDD IQTPKFVPSS RSNSFNTDRN IDKYNYTLWK
GQLLNKGKLL CYISLRSATR AFLPIKLPEK LDVETVMSID HLKQKIPPAL FYKETYLGPN
EVLKNGMYCS LYEVVEKTRI GSNMESLLQK LDREKLVLVK PLGDRGYLFL LSPYQMVPPY
EYQTAKSRVL HALFLFQEPR SIVTSQKGST NAAPQERHES MPDVLKIAQF LQFSLIQCRK
EFKNISAINF HSVVEKYVSE FFKRGFGSGK REFIMFPYDS RLDDKKFLYS APRNKSHIDT
CLHAYIFRPE VYQLPICKLK ELFEENRKLQ QFSPLSDYEG QEEEMNGTKM KFGKRNNSRG
EAIISGKQRS SHSLDYDKDR VKELINLIQC RKKSVGGDSD TEDMRSKTVL KRKLEDLPEN
MRKLAKTSNL SENCHLYEES PQPIGSLGHD ADLRRQQQDT CNSGIADIHR LFNWLSETLA
NARHSDASLT DTVNKALGLS TDDAYEELRQ KHEYELNSTP DKKDYEQPTC AKVENAQFKG
TQSLLLEVDA TSKYSVAIST SEVGTDHKLH LKEDPNLISV NNFEDCSLCP SVPIEHGFRR
QQSKSNNVEE TEIHWKLIPI TDTLKGTTED DVLTGQVEEQ CVPAAEAEPP AVSETTERTV
LGEYNLFSRK IEEILKQKNV SYVSRVSTPI FSTQEKMKRL SEFIYSKTSK AGVQEFVDGL
HEKLNTIIIK ASAKGGNLPP VSPNDSGAKI ASNPLERHVI PVSSSDFNNK HLLEPLCSDP
LKDTNSDEQH STSALTEVEM NQPQHATELM VTSDHIVPGD MAREPVEETT KSPSDVNISA
QPALSNFISQ LEPEVFNSLV KIMKDVQKNT VKFYIHEEEE SVLCKEIKEY LIKLGNTECH
PEQFLERRSK LDKLLIIIQN EDIAGFIHKI PGLVTLKKLP CVSFAGVDSL DDVKNHTYNE
LFVSGGFIVS DESILNPEVV TVENLKNFLT FLEELSTPEG KWQWKVHCKF QKKLKELGRL
NAKALSLLTL LNVYQKKHLV EILSYHNCDS QTRNAPELDC LIRLQAQNIQ QRHIVFLTEK
NIKMLSSYTD NGIVVATAED FMQNFKNLVG YHNSITEENL PQLGANENLE SQSALLENDE
KDEEDMSLDS GDEISHIEVC SNFHSEIWEK ETKGSRGTDQ KKNTQIELQS SPDVQNSLLE
DKTYLDSEER TSIDIVCSEG ENSNSTEQDS YSNFQVYHSQ LNMSHQFSHF NVLTHQTFLG
TPYALSSSQS QENENYFLSA YTESLDRDKS PPPLSWGKSD SSRPYSQEK*

speed

1.16 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems