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: ENST00000537672
Querying Taster for transcript #2: ENST00000354310
Querying Taster for transcript #3: ENST00000293745
Querying Taster for transcript #4: ENST00000398066
MT speed 0 s - this script 4.640555 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
KRT72	polymorphism_automatic	0.024500207807523	simple_aae		affected		Y76C	single base exchange	rs12833456		show file
KRT72	polymorphism_automatic	0.091491736599486	simple_aae		affected		Y264C	single base exchange	rs12833456		show file
KRT72	polymorphism_automatic	0.091491736599486	simple_aae		affected		Y264C	single base exchange	rs12833456		show file
KRT72	polymorphism_automatic	0.091491736599486	simple_aae		affected		Y264C	single base exchange	rs12833456		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.975499792192477 (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)

chr12:52986187T>CN/A show variant in all transcripts IGV

HGNC symbol

KRT72

Ensembl transcript ID

ENST00000398066

Genbank transcript ID

N/A

UniProt peptide

Q14CN4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.227A>G
cDNA.910A>G
g.9136A>G

AA changes

Y76C Score: 194 explain score(s)

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

frameshift

known variant

Reference ID: rs12833456

database	homozygous (C/C)	heterozygous	allele carriers
1000G	385	1097	1482
ExAC	9687	13393	23080

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.991	1
	2.035	0.999
(flanking)	0.241	0.973

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	9137	wt: 0.7618 / mu: 0.7836 (marginal change - not scored)	wt: AAATTCTTCAAGTGCCTTTATGAAGGGGTAAGGACTTGGCT mu: AAATTCTTCAAGTGCCTTTGTGAAGGGGTAAGGACTTGGCT	ttat\|GAAG
Donor increased	9135	wt: 0.60 / mu: 0.99	wt: GCCTTTATGAAGGGG mu: GCCTTTGTGAAGGGG	CTTT\|atga

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

ENSPTRG00000004984

264

Mmulatta

no homologue

Fcatus

all identical

ENSFCAG00000000289

122

Mmusculus

all conserved

ENSMUSG00000056605

273

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1	124	REGION	Head.	lost
10	96	COMPBIAS	Gly-rich.	lost
125	160	REGION	Coil 1A.	might get lost (downstream of altered splice site)
125	434	REGION	Rod.	might get lost (downstream of altered splice site)
161	179	REGION	Linker 1.	might get lost (downstream of altered splice site)
180	271	REGION	Coil 1B.	might get lost (downstream of altered splice site)
272	295	REGION	Linker 12.	might get lost (downstream of altered splice site)
296	434	REGION	Coil 2.	might get lost (downstream of altered splice site)
376	376	SITE	Stutter.	might get lost (downstream of altered splice site)
435	511	REGION	Tail.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

972 / 972

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

324 / 324

position of stopcodon in wt / mu cDNA

1655 / 1655

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

684 / 684

chromosome

strand

-1

last intron/exon boundary

1465

theoretical NMD boundary in CDS

731

length of CDS

972

coding sequence (CDS) position

227

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

910

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

9136

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

52986187

original gDNA sequence snippet

TAAATTCTTCAAGTGCCTTTATGAAGGGGTAAGGACTTGGC

altered gDNA sequence snippet

TAAATTCTTCAAGTGCCTTTGTGAAGGGGTAAGGACTTGGC

original cDNA sequence snippet

TAAATTCTTCAAGTGCCTTTATGAAGGGGAGATCACTCAGA

altered cDNA sequence snippet

TAAATTCTTCAAGTGCCTTTGTGAAGGGGAGATCACTCAGA

wildtype AA sequence

MLSGDGVRLD SELRNMQDLV EDYKKRYEVE INRRTAAENE FVVLKKDVDA AYMNKVELQA
KVDSLTDEIK FFKCLYEGEI TQIQSHISDT SIVLSMDNNR DLDLDSIIAE VRAQYEEIAL
KSKAEAETLY QTKIQELQVT AGQHGDDLKL TKAEISELNR LIQRIRSEIG NVKKQCADLE
TAIADAEQRG DCALKDARAK LDELEGALHQ AKEELARMLR EYQELVSLKL ALDMEIATYR
KLLESEECRM SGEYPNSVSI SVISSTNAGA GGAGFSMGFG ASSSYSYKTA AADVKTKGSC
GSELKDPLAK TSGSSCATKK ASR*

mutated AA sequence

MLSGDGVRLD SELRNMQDLV EDYKKRYEVE INRRTAAENE FVVLKKDVDA AYMNKVELQA
KVDSLTDEIK FFKCLCEGEI TQIQSHISDT SIVLSMDNNR DLDLDSIIAE VRAQYEEIAL
KSKAEAETLY QTKIQELQVT AGQHGDDLKL TKAEISELNR LIQRIRSEIG NVKKQCADLE
TAIADAEQRG DCALKDARAK LDELEGALHQ AKEELARMLR EYQELVSLKL ALDMEIATYR
KLLESEECRM SGEYPNSVSI SVISSTNAGA GGAGFSMGFG ASSSYSYKTA AADVKTKGSC
GSELKDPLAK TSGSSCATKK ASR*

speed

0.96 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: 0.908508263400514 (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)

chr12:52986187T>CN/A show variant in all transcripts IGV

HGNC symbol

KRT72

Ensembl transcript ID

ENST00000354310

Genbank transcript ID

NM_001146226

UniProt peptide

Q14CN4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.791A>G
cDNA.877A>G
g.9136A>G

AA changes

Y264C Score: 194 explain score(s)

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

264

frameshift

known variant

Reference ID: rs12833456

database	homozygous (C/C)	heterozygous	allele carriers
1000G	385	1097	1482
ExAC	9687	13393	23080

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.991	1
	2.035	0.999
(flanking)	0.241	0.973

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	9137	wt: 0.7618 / mu: 0.7836 (marginal change - not scored)	wt: AAATTCTTCAAGTGCCTTTATGAAGGGGTAAGGACTTGGCT mu: AAATTCTTCAAGTGCCTTTGTGAAGGGGTAAGGACTTGGCT	ttat\|GAAG
Donor increased	9135	wt: 0.60 / mu: 0.99	wt: GCCTTTATGAAGGGG mu: GCCTTTGTGAAGGGG	CTTT\|atga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

264

mutated

not conserved

264

Ptroglodytes

all identical

ENSPTRG00000004984

264

Mmulatta

no homologue

Fcatus

all identical

ENSFCAG00000000289

122

Mmusculus

all conserved

ENSMUSG00000056605

273

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
125	434	REGION	Rod.	lost
180	271	REGION	Coil 1B.	lost
272	295	REGION	Linker 12.	might get lost (downstream of altered splice site)
296	434	REGION	Coil 2.	might get lost (downstream of altered splice site)
376	376	SITE	Stutter.	might get lost (downstream of altered splice site)
435	511	REGION	Tail.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1410 / 1410

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

470 / 470

position of stopcodon in wt / mu cDNA

1496 / 1496

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

87 / 87

chromosome

strand

-1

last intron/exon boundary

1306

theoretical NMD boundary in CDS

1169

length of CDS

1410

coding sequence (CDS) position

791

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

877

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

9136

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

52986187

original gDNA sequence snippet

TAAATTCTTCAAGTGCCTTTATGAAGGGGTAAGGACTTGGC

altered gDNA sequence snippet

TAAATTCTTCAAGTGCCTTTGTGAAGGGGTAAGGACTTGGC

original cDNA sequence snippet

TAAATTCTTCAAGTGCCTTTATGAAGGGGAGATCACTCAGA

altered cDNA sequence snippet

TAAATTCTTCAAGTGCCTTTGTGAAGGGGAGATCACTCAGA

wildtype AA sequence

MSRQLTHFPR GERLGFSGCS AVLSGGIGSS SASFRARVKG SASFGSKSLS CLGGSRSLAL
SAAARRGGGR LGGFVGTAFG SAGLGPKCPS VCPPGGIPQV TVNKSLLAPL NVEMDPEIQR
VRAQEREQIK ALNNKFASFI DKVRFLEQQN QVLETKWNLL QQLDLNNCRK NLEPIYEGYI
SNLQKQLEML SGDGVRLDSE LRNMQDLVED YKKRYEVEIN RRTAAENEFV VLKKDVDAAY
MNKVELQAKV DSLTDEIKFF KCLYEGEITQ IQSHISDTSI VLSMDNNRDL DLDSIIAEVR
AQYEEIALKS KAEAETLYQT KCADLETAIA DAEQRGDCAL KDARAKLDEL EGALHQAKEE
LARMLREYQE LVSLKLALDM EIATYRKLLE SEECRMSGEY PNSVSISVIS STNAGAGGAG
FSMGFGASSS YSYKTAAADV KTKGSCGSEL KDPLAKTSGS SCATKKASR*

mutated AA sequence

MSRQLTHFPR GERLGFSGCS AVLSGGIGSS SASFRARVKG SASFGSKSLS CLGGSRSLAL
SAAARRGGGR LGGFVGTAFG SAGLGPKCPS VCPPGGIPQV TVNKSLLAPL NVEMDPEIQR
VRAQEREQIK ALNNKFASFI DKVRFLEQQN QVLETKWNLL QQLDLNNCRK NLEPIYEGYI
SNLQKQLEML SGDGVRLDSE LRNMQDLVED YKKRYEVEIN RRTAAENEFV VLKKDVDAAY
MNKVELQAKV DSLTDEIKFF KCLCEGEITQ IQSHISDTSI VLSMDNNRDL DLDSIIAEVR
AQYEEIALKS KAEAETLYQT KCADLETAIA DAEQRGDCAL KDARAKLDEL EGALHQAKEE
LARMLREYQE LVSLKLALDM EIATYRKLLE SEECRMSGEY PNSVSISVIS STNAGAGGAG
FSMGFGASSS YSYKTAAADV KTKGSCGSEL KDPLAKTSGS SCATKKASR*

speed

0.82 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.908508263400514 (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)

chr12:52986187T>CN/A show variant in all transcripts IGV

HGNC symbol

KRT72

Ensembl transcript ID

ENST00000537672

Genbank transcript ID

NM_001146225

UniProt peptide

Q14CN4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.791A>G
cDNA.802A>G
g.9136A>G

AA changes

Y264C Score: 194 explain score(s)

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

264

frameshift

known variant

Reference ID: rs12833456

database	homozygous (C/C)	heterozygous	allele carriers
1000G	385	1097	1482
ExAC	9687	13393	23080

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.991	1
	2.035	0.999
(flanking)	0.241	0.973

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	9137	wt: 0.7618 / mu: 0.7836 (marginal change - not scored)	wt: AAATTCTTCAAGTGCCTTTATGAAGGGGTAAGGACTTGGCT mu: AAATTCTTCAAGTGCCTTTGTGAAGGGGTAAGGACTTGGCT	ttat\|GAAG
Donor increased	9135	wt: 0.60 / mu: 0.99	wt: GCCTTTATGAAGGGG mu: GCCTTTGTGAAGGGG	CTTT\|atga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

264

mutated

not conserved

264

Ptroglodytes

all identical

ENSPTRG00000004984

264

Mmulatta

no homologue

Fcatus

all identical

ENSFCAG00000000289

122

Mmusculus

all conserved

ENSMUSG00000056605

273

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
125	434	REGION	Rod.	lost
180	271	REGION	Coil 1B.	lost
272	295	REGION	Linker 12.	might get lost (downstream of altered splice site)
296	434	REGION	Coil 2.	might get lost (downstream of altered splice site)
376	376	SITE	Stutter.	might get lost (downstream of altered splice site)
435	511	REGION	Tail.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1536 / 1536

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

512 / 512

position of stopcodon in wt / mu cDNA

1547 / 1547

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

1567

theoretical NMD boundary in CDS

1505

length of CDS

1536

coding sequence (CDS) position

791

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

802

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

9136

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

52986187

original gDNA sequence snippet

TAAATTCTTCAAGTGCCTTTATGAAGGGGTAAGGACTTGGC

altered gDNA sequence snippet

TAAATTCTTCAAGTGCCTTTGTGAAGGGGTAAGGACTTGGC

original cDNA sequence snippet

TAAATTCTTCAAGTGCCTTTATGAAGGGGAGATCACTCAGA

altered cDNA sequence snippet

TAAATTCTTCAAGTGCCTTTGTGAAGGGGAGATCACTCAGA

wildtype AA sequence

MSRQLTHFPR GERLGFSGCS AVLSGGIGSS SASFRARVKG SASFGSKSLS CLGGSRSLAL
SAAARRGGGR LGGFVGTAFG SAGLGPKCPS VCPPGGIPQV TVNKSLLAPL NVEMDPEIQR
VRAQEREQIK ALNNKFASFI DKVRFLEQQN QVLETKWNLL QQLDLNNCRK NLEPIYEGYI
SNLQKQLEML SGDGVRLDSE LRNMQDLVED YKKRYEVEIN RRTAAENEFV VLKKDVDAAY
MNKVELQAKV DSLTDEIKFF KCLYEGEITQ IQSHISDTSI VLSMDNNRDL DLDSIIAEVR
AQYEEIALKS KAEAETLYQT KIQELQVTAG QHGDDLKLTK AEISELNRLI QRIRSEIGNV
KKQCADLETA IADAEQRGDC ALKDARAKLD ELEGALHQAK EELARMLREY QELVSLKLAL
DMEIATYRKL LESEECRMSG EYPNSVSISV ISSTNAGAGG AGFSMGFGAS SSYSYKTAAA
DVKTKGSCGS ELKDPLAKTS GSSCATKKAS R*

mutated AA sequence

MSRQLTHFPR GERLGFSGCS AVLSGGIGSS SASFRARVKG SASFGSKSLS CLGGSRSLAL
SAAARRGGGR LGGFVGTAFG SAGLGPKCPS VCPPGGIPQV TVNKSLLAPL NVEMDPEIQR
VRAQEREQIK ALNNKFASFI DKVRFLEQQN QVLETKWNLL QQLDLNNCRK NLEPIYEGYI
SNLQKQLEML SGDGVRLDSE LRNMQDLVED YKKRYEVEIN RRTAAENEFV VLKKDVDAAY
MNKVELQAKV DSLTDEIKFF KCLCEGEITQ IQSHISDTSI VLSMDNNRDL DLDSIIAEVR
AQYEEIALKS KAEAETLYQT KIQELQVTAG QHGDDLKLTK AEISELNRLI QRIRSEIGNV
KKQCADLETA IADAEQRGDC ALKDARAKLD ELEGALHQAK EELARMLREY QELVSLKLAL
DMEIATYRKL LESEECRMSG EYPNSVSISV ISSTNAGAGG AGFSMGFGAS SSYSYKTAAA
DVKTKGSCGS ELKDPLAKTS GSSCATKKAS R*

speed

0.75 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.908508263400514 (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)

chr12:52986187T>CN/A show variant in all transcripts IGV

HGNC symbol

KRT72

Ensembl transcript ID

ENST00000293745

Genbank transcript ID

NM_080747

UniProt peptide

Q14CN4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.791A>G
cDNA.877A>G
g.9136A>G

AA changes

Y264C Score: 194 explain score(s)

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

264

frameshift

known variant

Reference ID: rs12833456

database	homozygous (C/C)	heterozygous	allele carriers
1000G	385	1097	1482
ExAC	9687	13393	23080

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.991	1
	2.035	0.999
(flanking)	0.241	0.973

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	9137	wt: 0.7618 / mu: 0.7836 (marginal change - not scored)	wt: AAATTCTTCAAGTGCCTTTATGAAGGGGTAAGGACTTGGCT mu: AAATTCTTCAAGTGCCTTTGTGAAGGGGTAAGGACTTGGCT	ttat\|GAAG
Donor increased	9135	wt: 0.60 / mu: 0.99	wt: GCCTTTATGAAGGGG mu: GCCTTTGTGAAGGGG	CTTT\|atga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

264

mutated

not conserved

264

Ptroglodytes

all identical

ENSPTRG00000004984

264

Mmulatta

no homologue

Fcatus

all identical

ENSFCAG00000000289

122

Mmusculus

all conserved

ENSMUSG00000056605

273

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
125	434	REGION	Rod.	lost
180	271	REGION	Coil 1B.	lost
272	295	REGION	Linker 12.	might get lost (downstream of altered splice site)
296	434	REGION	Coil 2.	might get lost (downstream of altered splice site)
376	376	SITE	Stutter.	might get lost (downstream of altered splice site)
435	511	REGION	Tail.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1536 / 1536

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

512 / 512

position of stopcodon in wt / mu cDNA

1622 / 1622

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

87 / 87

chromosome

strand

-1

last intron/exon boundary

1432

theoretical NMD boundary in CDS

1295

length of CDS

1536

coding sequence (CDS) position

791

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

877

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

9136

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

52986187

original gDNA sequence snippet

TAAATTCTTCAAGTGCCTTTATGAAGGGGTAAGGACTTGGC

altered gDNA sequence snippet

TAAATTCTTCAAGTGCCTTTGTGAAGGGGTAAGGACTTGGC

original cDNA sequence snippet

TAAATTCTTCAAGTGCCTTTATGAAGGGGAGATCACTCAGA

altered cDNA sequence snippet

TAAATTCTTCAAGTGCCTTTGTGAAGGGGAGATCACTCAGA

wildtype AA sequence

MSRQLTHFPR GERLGFSGCS AVLSGGIGSS SASFRARVKG SASFGSKSLS CLGGSRSLAL
SAAARRGGGR LGGFVGTAFG SAGLGPKCPS VCPPGGIPQV TVNKSLLAPL NVEMDPEIQR
VRAQEREQIK ALNNKFASFI DKVRFLEQQN QVLETKWNLL QQLDLNNCRK NLEPIYEGYI
SNLQKQLEML SGDGVRLDSE LRNMQDLVED YKKRYEVEIN RRTAAENEFV VLKKDVDAAY
MNKVELQAKV DSLTDEIKFF KCLYEGEITQ IQSHISDTSI VLSMDNNRDL DLDSIIAEVR
AQYEEIALKS KAEAETLYQT KIQELQVTAG QHGDDLKLTK AEISELNRLI QRIRSEIGNV
KKQCADLETA IADAEQRGDC ALKDARAKLD ELEGALHQAK EELARMLREY QELVSLKLAL
DMEIATYRKL LESEECRMSG EYPNSVSISV ISSTNAGAGG AGFSMGFGAS SSYSYKTAAA
DVKTKGSCGS ELKDPLAKTS GSSCATKKAS R*

mutated AA sequence

MSRQLTHFPR GERLGFSGCS AVLSGGIGSS SASFRARVKG SASFGSKSLS CLGGSRSLAL
SAAARRGGGR LGGFVGTAFG SAGLGPKCPS VCPPGGIPQV TVNKSLLAPL NVEMDPEIQR
VRAQEREQIK ALNNKFASFI DKVRFLEQQN QVLETKWNLL QQLDLNNCRK NLEPIYEGYI
SNLQKQLEML SGDGVRLDSE LRNMQDLVED YKKRYEVEIN RRTAAENEFV VLKKDVDAAY
MNKVELQAKV DSLTDEIKFF KCLCEGEITQ IQSHISDTSI VLSMDNNRDL DLDSIIAEVR
AQYEEIALKS KAEAETLYQT KIQELQVTAG QHGDDLKLTK AEISELNRLI QRIRSEIGNV
KKQCADLETA IADAEQRGDC ALKDARAKLD ELEGALHQAK EELARMLREY QELVSLKLAL
DMEIATYRKL LESEECRMSG EYPNSVSISV ISSTNAGAGG AGFSMGFGAS SSYSYKTAAA
DVKTKGSCGS ELKDPLAKTS GSSCATKKAS R*

speed

0.79 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