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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000547525
Querying Taster for transcript #2: ENST00000332082
Querying Taster for transcript #3: ENST00000549903
Querying Taster for transcript #4: ENST00000261400
MT speed 0 s - this script 5.299496 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
WSCD2	polymorphism_automatic	0.99999999374288	simple_aae		affected		T266I	single base exchange	rs3764002		show file
WSCD2	polymorphism_automatic	0.99999999374288	simple_aae		affected		T266I	single base exchange	rs3764002		show file
WSCD2	polymorphism_automatic	0.99999999374288	simple_aae		affected		T266I	single base exchange	rs3764002		show file
WSCD2	polymorphism_automatic	0.99999999374288	simple_aae		affected		T266I	single base exchange	rs3764002		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 6.25712017168043e-09 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:108618630C>TN/A show variant in all transcripts IGV

HGNC symbol

WSCD2

Ensembl transcript ID

ENST00000332082

Genbank transcript ID

NM_014653

UniProt peptide

Q2TBF2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.797C>T
cDNA.1615C>T
g.95383C>T

AA changes

T266I Score: 89 explain score(s)

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

266

frameshift

known variant

Reference ID: rs3764002

database	homozygous (T/T)	heterozygous	allele carriers
1000G	263	761	1024
ExAC	5128	22192	27320

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.759	1
	5.76	1
(flanking)	-4.832	0

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 marginally increased	95383	wt: 0.4691 / mu: 0.5026 (marginal change - not scored)	wt: CAAATGCGTGGACTTCTGCACTGAGAAGGTGAGCACAAGGT mu: CAAATGCGTGGACTTCTGCATTGAGAAGGTGAGCACAAGGT	gcac\|TGAG
Donor marginally increased	95381	wt: 0.2148 / mu: 0.2332 (marginal change - not scored)	wt: TTCTGCACTGAGAAG mu: TTCTGCATTGAGAAG	CTGC\|actg
Acc gained	95386	0.31	mu: ATGCGTGGACTTCTGCATTGAGAAGGTGAGCACAAGGTGGG	ttga\|GAAG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

266

mutated

not conserved

266

Ptroglodytes

all identical

ENSPTRG00000005402

266

Mmulatta

no alignment

ENSMMUG00000019042

n/a

Fcatus

all identical

ENSFCAG00000010884

223

Mmusculus

all identical

ENSMUSG00000063430

272

Ggallus

all identical

ENSGALG00000004849

275

Trubripes

all identical

ENSTRUG00000014085

266

Drerio

all identical

ENSDARG00000061819

273

Dmelanogaster

no alignment

FBgn0030634

n/a

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000011472

266

protein features

start (aa)	end (aa)	feature	details
230	324	DOMAIN	WSC 2.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1698 / 1698

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

566 / 566

position of stopcodon in wt / mu cDNA

2516 / 2516

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

819 / 819

chromosome

strand

last intron/exon boundary

2164

theoretical NMD boundary in CDS

1295

length of CDS

1698

coding sequence (CDS) position

797

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

1615

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

95383

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

108618630

original gDNA sequence snippet

CAAATGCGTGGACTTCTGCACTGAGAAGGTGAGCACAAGGT

altered gDNA sequence snippet

CAAATGCGTGGACTTCTGCATTGAGAAGGTGAGCACAAGGT

original cDNA sequence snippet

CAAATGCGTGGACTTCTGCACTGAGAAGGAGTACCCGCTGG

altered cDNA sequence snippet

CAAATGCGTGGACTTCTGCATTGAGAAGGAGTACCCGCTGG

wildtype AA sequence

MAKLWFKFQR YFRRKPVRFF TFLALYLTAG SLVFLHSGFV GQPAVSGNQA NPAAAGGPAE
GAELSFLGDM HLGRGFRDTG EASSIARRYG PWFKGKDGNE RAKLGDYGGA WSRALKGRVV
REKEEERAKY IGCYLDDTQS RALRGVSFFD YKKMTIFRCQ DNCAERGYLY GGLEFGAECY
CGHKIQATNV SEAECDMECK GERGSVCGGA NRLSVYRLQL AQESARRYGS AVFRGCFRRP
DNLSLALPVT AAMLNMSVDK CVDFCTEKEY PLAALAGTAC HCGFPTTRFP LHDREDEQLC
AQKCSAEEFE SCGTPSYFIV YQTQVQDNRC MDRRFLPGKS KQLIALASFP GAGNTWARHL
IELATGFYTG SYYFDGSLYN KGFKGERDHW RSGRTICIKT HESGQKEIEA FDAAILLIRN
PYKALMAEFN RKYGGHIGFA AHAHWKGKEW PEFVRNYAPW WATHTLDWLK FGKKVLVVHF
EDLKQDLFVQ LGRMVSLLGV AVREDRLLCV ESQKDGNFKR SGLRKLEYDP YTADMQKTIS
AYIKMVDAAL KGRNLTGVPD DYYPR*

mutated AA sequence

MAKLWFKFQR YFRRKPVRFF TFLALYLTAG SLVFLHSGFV GQPAVSGNQA NPAAAGGPAE
GAELSFLGDM HLGRGFRDTG EASSIARRYG PWFKGKDGNE RAKLGDYGGA WSRALKGRVV
REKEEERAKY IGCYLDDTQS RALRGVSFFD YKKMTIFRCQ DNCAERGYLY GGLEFGAECY
CGHKIQATNV SEAECDMECK GERGSVCGGA NRLSVYRLQL AQESARRYGS AVFRGCFRRP
DNLSLALPVT AAMLNMSVDK CVDFCIEKEY PLAALAGTAC HCGFPTTRFP LHDREDEQLC
AQKCSAEEFE SCGTPSYFIV YQTQVQDNRC MDRRFLPGKS KQLIALASFP GAGNTWARHL
IELATGFYTG SYYFDGSLYN KGFKGERDHW RSGRTICIKT HESGQKEIEA FDAAILLIRN
PYKALMAEFN RKYGGHIGFA AHAHWKGKEW PEFVRNYAPW WATHTLDWLK FGKKVLVVHF
EDLKQDLFVQ LGRMVSLLGV AVREDRLLCV ESQKDGNFKR SGLRKLEYDP YTADMQKTIS
AYIKMVDAAL KGRNLTGVPD DYYPR*

speed

1.27 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: 6.25712017168043e-09 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:108618630C>TN/A show variant in all transcripts IGV

HGNC symbol

WSCD2

Ensembl transcript ID

ENST00000547525

Genbank transcript ID

N/A

UniProt peptide

Q2TBF2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.797C>T
cDNA.1804C>T
g.95383C>T

AA changes

T266I Score: 89 explain score(s)

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

266

frameshift

known variant

Reference ID: rs3764002

database	homozygous (T/T)	heterozygous	allele carriers
1000G	263	761	1024
ExAC	5128	22192	27320

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.759	1
	5.76	1
(flanking)	-4.832	0

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 marginally increased	95383	wt: 0.4691 / mu: 0.5026 (marginal change - not scored)	wt: CAAATGCGTGGACTTCTGCACTGAGAAGGTGAGCACAAGGT mu: CAAATGCGTGGACTTCTGCATTGAGAAGGTGAGCACAAGGT	gcac\|TGAG
Donor marginally increased	95381	wt: 0.2148 / mu: 0.2332 (marginal change - not scored)	wt: TTCTGCACTGAGAAG mu: TTCTGCATTGAGAAG	CTGC\|actg
Acc gained	95386	0.31	mu: ATGCGTGGACTTCTGCATTGAGAAGGTGAGCACAAGGTGGG	ttga\|GAAG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

266

mutated

not conserved

266

Ptroglodytes

all identical

ENSPTRG00000005402

266

Mmulatta

no alignment

ENSMMUG00000019042

n/a

Fcatus

all identical

ENSFCAG00000010884

223

Mmusculus

all identical

ENSMUSG00000063430

272

Ggallus

all identical

ENSGALG00000004849

275

Trubripes

all identical

ENSTRUG00000014085

266

Drerio

all identical

ENSDARG00000061819

273

Dmelanogaster

no alignment

FBgn0030634

n/a

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000011472

266

protein features

start (aa)	end (aa)	feature	details
230	324	DOMAIN	WSC 2.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1698 / 1698

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

566 / 566

position of stopcodon in wt / mu cDNA

2705 / 2705

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

1008 / 1008

chromosome

strand

last intron/exon boundary

2353

theoretical NMD boundary in CDS

1295

length of CDS

1698

coding sequence (CDS) position

797

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

1804

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

95383

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

108618630

original gDNA sequence snippet

CAAATGCGTGGACTTCTGCACTGAGAAGGTGAGCACAAGGT

altered gDNA sequence snippet

CAAATGCGTGGACTTCTGCATTGAGAAGGTGAGCACAAGGT

original cDNA sequence snippet

CAAATGCGTGGACTTCTGCACTGAGAAGGAGTACCCGCTGG

altered cDNA sequence snippet

CAAATGCGTGGACTTCTGCATTGAGAAGGAGTACCCGCTGG

wildtype AA sequence

mutated AA sequence

MAKLWFKFQR YFRRKPVRFF TFLALYLTAG SLVFLHSGFV GQPAVSGNQA NPAAAGGPAE
GAELSFLGDM HLGRGFRDTG EASSIARRYG PWFKGKDGNE RAKLGDYGGA WSRALKGRVV
REKEEERAKY IGCYLDDTQS RALRGVSFFD YKKMTIFRCQ DNCAERGYLY GGLEFGAECY
CGHKIQATNV SEAECDMECK GERGSVCGGA NRLSVYRLQL AQESARRYGS AVFRGCFRRP
DNLSLALPVT AAMLNMSVDK CVDFCIEKEY PLAALAGTAC HCGFPTTRFP LHDREDEQLC
AQKCSAEEFE SCGTPSYFIV YQTQVQDNRC MDRRFLPGKS KQLIALASFP GAGNTWARHL
IELATGFYTG SYYFDGSLYN KGFKGERDHW RSGRTICIKT HESGQKEIEA FDAAILLIRN
PYKALMAEFN RKYGGHIGFA AHAHWKGKEW PEFVRNYAPW WATHTLDWLK FGKKVLVVHF
EDLKQDLFVQ LGRMVSLLGV AVREDRLLCV ESQKDGNFKR SGLRKLEYDP YTADMQKTIS
AYIKMVDAAL KGRNLTGVPD DYYPR*

speed

0.50 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 6.25712017168043e-09 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:108618630C>TN/A show variant in all transcripts IGV

HGNC symbol

WSCD2

Ensembl transcript ID

ENST00000549903

Genbank transcript ID

N/A

UniProt peptide

Q2TBF2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.797C>T
cDNA.797C>T
g.95383C>T

AA changes

T266I Score: 89 explain score(s)

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

266

frameshift

known variant

Reference ID: rs3764002

database	homozygous (T/T)	heterozygous	allele carriers
1000G	263	761	1024
ExAC	5128	22192	27320

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.759	1
	5.76	1
(flanking)	-4.832	0

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 marginally increased	95383	wt: 0.4691 / mu: 0.5026 (marginal change - not scored)	wt: CAAATGCGTGGACTTCTGCACTGAGAAGGTGAGCACAAGGT mu: CAAATGCGTGGACTTCTGCATTGAGAAGGTGAGCACAAGGT	gcac\|TGAG
Donor marginally increased	95381	wt: 0.2148 / mu: 0.2332 (marginal change - not scored)	wt: TTCTGCACTGAGAAG mu: TTCTGCATTGAGAAG	CTGC\|actg
Acc gained	95386	0.31	mu: ATGCGTGGACTTCTGCATTGAGAAGGTGAGCACAAGGTGGG	ttga\|GAAG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

266

mutated

not conserved

266

Ptroglodytes

all identical

ENSPTRG00000005402

266

Mmulatta

no alignment

ENSMMUG00000019042

n/a

Fcatus

all identical

ENSFCAG00000010884

223

Mmusculus

all identical

ENSMUSG00000063430

272

Ggallus

all identical

ENSGALG00000004849

275

Trubripes

all identical

ENSTRUG00000014085

266

Drerio

all identical

ENSDARG00000061819

273

Dmelanogaster

no alignment

FBgn0030634

n/a

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000011472

266

protein features

start (aa)	end (aa)	feature	details
230	324	DOMAIN	WSC 2.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1758 / 1758

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

586 / 586

position of stopcodon in wt / mu cDNA

1758 / 1758

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

1 / 1

chromosome

strand

last intron/exon boundary

1406

theoretical NMD boundary in CDS

1355

length of CDS

1758

coding sequence (CDS) position

797

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

797

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

95383

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

108618630

original gDNA sequence snippet

CAAATGCGTGGACTTCTGCACTGAGAAGGTGAGCACAAGGT

altered gDNA sequence snippet

CAAATGCGTGGACTTCTGCATTGAGAAGGTGAGCACAAGGT

original cDNA sequence snippet

CAAATGCGTGGACTTCTGCACTGAGAAGGAGTACCCGCTGG

altered cDNA sequence snippet

CAAATGCGTGGACTTCTGCATTGAGAAGGAGTACCCGCTGG

wildtype AA sequence

MAKLWFKFQR YFRRKPVRFF TFLALYLTAG SLVFLHSGFV GQPAVSGNQA NPAAAGGPAE
GAELSFLGDM HLGRGFRDTG EASSIARRYG PWFKGKDGNE RAKLGDYGGA WSRALKGRVV
REKEEERAKY IGCYLDDTQS RALRGVSFFD YKKMTIFRCQ DNCAERGYLY GGLEFGAECY
CGHKIQATNV SEAECDMECK GERGSVCGGA NRLSVYRLQL AQESARRYGS AVFRGCFRRP
DNLSLALPVT AAMLNMSVDK CVDFCTEKEY PLAALAGTAC HCGFPTTRFP LHDREDEQLC
AQKCSAEEFE SCGTPSYFIV YQTQVQDNRC MDRRFLPGKS KQLIALASFP GAGNTWARHL
IELATGFYTG SYYFDGSLYN KGFKGERDHW RSGRTICIKT HESGQKEIEA FDAAILLIRN
PYKALMAEFN RKYGGHIGFA AHAHWKGKGA VPGSLQILFR SICTASVGEW PEFVRNYAPW
WATHTLDWLK FGKKVLVVHF EDLKQDLFVQ LGRMVSLLGV AVREDRLLCV ESQKDGNFKR
SGLRKLEYDP YTADMQKTIS AYIKMVDAAL KGRNLTGVPD DYYPR*

mutated AA sequence

MAKLWFKFQR YFRRKPVRFF TFLALYLTAG SLVFLHSGFV GQPAVSGNQA NPAAAGGPAE
GAELSFLGDM HLGRGFRDTG EASSIARRYG PWFKGKDGNE RAKLGDYGGA WSRALKGRVV
REKEEERAKY IGCYLDDTQS RALRGVSFFD YKKMTIFRCQ DNCAERGYLY GGLEFGAECY
CGHKIQATNV SEAECDMECK GERGSVCGGA NRLSVYRLQL AQESARRYGS AVFRGCFRRP
DNLSLALPVT AAMLNMSVDK CVDFCIEKEY PLAALAGTAC HCGFPTTRFP LHDREDEQLC
AQKCSAEEFE SCGTPSYFIV YQTQVQDNRC MDRRFLPGKS KQLIALASFP GAGNTWARHL
IELATGFYTG SYYFDGSLYN KGFKGERDHW RSGRTICIKT HESGQKEIEA FDAAILLIRN
PYKALMAEFN RKYGGHIGFA AHAHWKGKGA VPGSLQILFR SICTASVGEW PEFVRNYAPW
WATHTLDWLK FGKKVLVVHF EDLKQDLFVQ LGRMVSLLGV AVREDRLLCV ESQKDGNFKR
SGLRKLEYDP YTADMQKTIS AYIKMVDAAL KGRNLTGVPD DYYPR*

speed

0.67 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 6.25712017168043e-09 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:108618630C>TN/A show variant in all transcripts IGV

HGNC symbol

WSCD2

Ensembl transcript ID

ENST00000261400

Genbank transcript ID

N/A

UniProt peptide

Q2TBF2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.797C>T
cDNA.1541C>T
g.95383C>T

AA changes

T266I Score: 89 explain score(s)

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

266

frameshift

known variant

Reference ID: rs3764002

database	homozygous (T/T)	heterozygous	allele carriers
1000G	263	761	1024
ExAC	5128	22192	27320

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.759	1
	5.76	1
(flanking)	-4.832	0

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 marginally increased	95383	wt: 0.4691 / mu: 0.5026 (marginal change - not scored)	wt: CAAATGCGTGGACTTCTGCACTGAGAAGGTGAGCACAAGGT mu: CAAATGCGTGGACTTCTGCATTGAGAAGGTGAGCACAAGGT	gcac\|TGAG
Donor marginally increased	95381	wt: 0.2148 / mu: 0.2332 (marginal change - not scored)	wt: TTCTGCACTGAGAAG mu: TTCTGCATTGAGAAG	CTGC\|actg
Acc gained	95386	0.31	mu: ATGCGTGGACTTCTGCATTGAGAAGGTGAGCACAAGGTGGG	ttga\|GAAG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

266

mutated

not conserved

266

Ptroglodytes

all identical

ENSPTRG00000005402

266

Mmulatta

no alignment

ENSMMUG00000019042

n/a

Fcatus

all identical

ENSFCAG00000010884

223

Mmusculus

all identical

ENSMUSG00000063430

272

Ggallus

all identical

ENSGALG00000004849

275

Trubripes

all identical

ENSTRUG00000014085

266

Drerio

all identical

ENSDARG00000061819

273

Dmelanogaster

no alignment

FBgn0030634

n/a

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000011472

266

protein features

start (aa)	end (aa)	feature	details
230	324	DOMAIN	WSC 2.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1758 / 1758

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

586 / 586

position of stopcodon in wt / mu cDNA

2502 / 2502

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

745 / 745

chromosome

strand

last intron/exon boundary

2150

theoretical NMD boundary in CDS

1355

length of CDS

1758

coding sequence (CDS) position

797

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

1541

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

95383

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

108618630

original gDNA sequence snippet

CAAATGCGTGGACTTCTGCACTGAGAAGGTGAGCACAAGGT

altered gDNA sequence snippet

CAAATGCGTGGACTTCTGCATTGAGAAGGTGAGCACAAGGT

original cDNA sequence snippet

CAAATGCGTGGACTTCTGCACTGAGAAGGAGTACCCGCTGG

altered cDNA sequence snippet

CAAATGCGTGGACTTCTGCATTGAGAAGGAGTACCCGCTGG

wildtype AA sequence

MAKLWFKFQR YFRRKPVRFF TFLALYLTAG SLVFLHSGFV GQPAVSGNQA NPAAAGGPAE
GAELSFLGDM HLGRGFRDTG EASSIARRYG PWFKGKDGNE RAKLGDYGGA WSRALKGRVV
REKEEERAKY IGCYLDDTQS RALRGVSFFD YKKMTIFRCQ DNCAERGYLY GGLEFGAECY
CGHKIQATNV SEAECDMECK GERGSVCGGA NRLSVYRLQL AQESARRYGS AVFRGCFRRP
DNLSLALPVT AAMLNMSVDK CVDFCTEKEY PLAALAGTAC HCGFPTTRFP LHDREDEQLC
AQKCSAEEFE SCGTPSYFIV YQTQVQDNRC MDRRFLPGKS KQLIALASFP GAGNTWARHL
IELATGFYTG SYYFDGSLYN KGFKGERDHW RSGRTICIKT HESGQKEIEA FDAAILLIRN
PYKALMAEFN RKYGGHIGFA AHAHWKGKGA VPGSLQILFR SICTASVGEW PEFVRNYAPW
WATHTLDWLK FGKKVLVVHF EDLKQDLFVQ LGRMVSLLGV AVREDRLLCV ESQKDGNFKR
SGLRKLEYDP YTADMQKTIS AYIKMVDAAL KGRNLTGVPD DYYPR*

mutated AA sequence

MAKLWFKFQR YFRRKPVRFF TFLALYLTAG SLVFLHSGFV GQPAVSGNQA NPAAAGGPAE
GAELSFLGDM HLGRGFRDTG EASSIARRYG PWFKGKDGNE RAKLGDYGGA WSRALKGRVV
REKEEERAKY IGCYLDDTQS RALRGVSFFD YKKMTIFRCQ DNCAERGYLY GGLEFGAECY
CGHKIQATNV SEAECDMECK GERGSVCGGA NRLSVYRLQL AQESARRYGS AVFRGCFRRP
DNLSLALPVT AAMLNMSVDK CVDFCIEKEY PLAALAGTAC HCGFPTTRFP LHDREDEQLC
AQKCSAEEFE SCGTPSYFIV YQTQVQDNRC MDRRFLPGKS KQLIALASFP GAGNTWARHL
IELATGFYTG SYYFDGSLYN KGFKGERDHW RSGRTICIKT HESGQKEIEA FDAAILLIRN
PYKALMAEFN RKYGGHIGFA AHAHWKGKGA VPGSLQILFR SICTASVGEW PEFVRNYAPW
WATHTLDWLK FGKKVLVVHF EDLKQDLFVQ LGRMVSLLGV AVREDRLLCV ESQKDGNFKR
SGLRKLEYDP YTADMQKTIS AYIKMVDAAL KGRNLTGVPD DYYPR*

speed

1.27 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems