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: ENST00000296754
Querying Taster for transcript #2: ENST00000443439
Querying Taster for transcript #3: ENST00000414384
MT speed 0 s - this script 4.903142 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ERAP1	polymorphism_automatic	0.000186967330195964	simple_aae		affected		Q730E	single base exchange	rs27044		show file
ERAP1	polymorphism_automatic	0.000186967330195964	simple_aae		affected		Q730E	single base exchange	rs27044		show file
ERAP1	polymorphism_automatic	0.000186967330195964	simple_aae		affected		Q730E	single base exchange	rs27044		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999813032669804 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM078286)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:96118852G>CN/A show variant in all transcripts IGV

HGNC symbol

ERAP1

Ensembl transcript ID

ENST00000296754

Genbank transcript ID

NM_016442

UniProt peptide

Q9NZ08

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2188C>G
cDNA.2446C>G
g.24952C>G

AA changes

Q730E Score: 29 explain score(s)

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

730

frameshift

known variant

Reference ID: rs27044

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1187	1028	2215
ExAC	29447	-26127	3320

known disease mutation at this position, please check HGMD for details (HGMD ID CM078286)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.909	0.764
	0.934	0.592
(flanking)	-1.428	0.161

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	24949	wt: 0.9956 / mu: 0.9965 (marginal change - not scored)	wt: TGCGGAGTCAACTAC mu: TGCGGAGTGAACTAC	CGGA\|gtca
Donor gained	24946	0.33	mu: TGCTGCGGAGTGAAC	CTGC\|ggag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

730

mutated

all conserved

730

Ptroglodytes

all identical

ENSPTRG00000017095

730

Mmulatta

no homologue

Fcatus

all conserved

ENSFCAG00000004966

730

Mmusculus

all identical

ENSMUSG00000021583

719

Ggallus

not conserved

ENSGALG00000014684

591

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000021859

744

Dmelanogaster

all conserved

FBgn0039064

913

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
22	941	TOPO_DOM	Lumenal (Potential).	lost
722	737	HELIX		lost
736	736	DISULFID		might get lost (downstream of altered splice site)
741	756	HELIX		might get lost (downstream of altered splice site)
743	743	DISULFID		might get lost (downstream of altered splice site)
757	759	TURN		might get lost (downstream of altered splice site)
760	760	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
765	767	HELIX		might get lost (downstream of altered splice site)
768	775	HELIX		might get lost (downstream of altered splice site)
779	791	HELIX		might get lost (downstream of altered splice site)
795	805	HELIX		might get lost (downstream of altered splice site)
811	823	HELIX		might get lost (downstream of altered splice site)
824	827	STRAND		might get lost (downstream of altered splice site)
829	831	HELIX		might get lost (downstream of altered splice site)
832	840	HELIX		might get lost (downstream of altered splice site)
843	845	TURN		might get lost (downstream of altered splice site)
846	864	HELIX		might get lost (downstream of altered splice site)
869	877	HELIX		might get lost (downstream of altered splice site)
878	881	TURN		might get lost (downstream of altered splice site)
885	896	HELIX		might get lost (downstream of altered splice site)
897	900	TURN		might get lost (downstream of altered splice site)
901	901	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
902	904	TURN		might get lost (downstream of altered splice site)
906	941	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2847 / 2847

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

949 / 949

position of stopcodon in wt / mu cDNA

3105 / 3105

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

259 / 259

chromosome

strand

-1

last intron/exon boundary

3077

theoretical NMD boundary in CDS

2768

length of CDS

2847

coding sequence (CDS) position

2188

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

2446

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

24952

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

96118852

original gDNA sequence snippet

CAGAGCGAATGCTGCGGAGTCAACTACTACTCCTCGCCTGT

altered gDNA sequence snippet

CAGAGCGAATGCTGCGGAGTGAACTACTACTCCTCGCCTGT

original cDNA sequence snippet

CAGAGCGAATGCTGCGGAGTCAACTACTACTCCTCGCCTGT

altered cDNA sequence snippet

CAGAGCGAATGCTGCGGAGTGAACTACTACTCCTCGCCTGT

wildtype AA sequence

MVFLPLKWSL ATMSFLLSSL LALLTVSTPS WCQSTEASPK RSDGTPFPWN KIRLPEYVIP
VHYDLLIHAN LTTLTFWGTT KVEITASQPT STIILHSHHL QISRATLRKG AGERLSEEPL
QVLEHPRQEQ IALLAPEPLL VGLPYTVVIH YAGNLSETFH GFYKSTYRTK EGELRILAST
QFEPTAARMA FPCFDEPAFK ASFSIKIRRE PRHLAISNMP LVKSVTVAEG LIEDHFDVTV
KMSTYLVAFI ISDFESVSKI TKSGVKVSVY AVPDKINQAD YALDAAVTLL EFYEDYFSIP
YPLPKQDLAA IPDFQSGAME NWGLTTYRES ALLFDAEKSS ASSKLGITMT VAHELAHQWF
GNLVTMEWWN DLWLNEGFAK FMEFVSVSVT HPELKVGDYF FGKCFDAMEV DALNSSHPVS
TPVENPAQIR EMFDDVSYDK GACILNMLRE YLSADAFKSG IVQYLQKHSY KNTKNEDLWD
SMASICPTDG VKGMDGFCSR SQHSSSSSHW HQEGVDVKTM MNTWTLQKGF PLITITVRGR
NVHMKQEHYM KGSDGAPDTG YLWHVPLTFI TSKSDMVHRF LLKTKTDVLI LPEEVEWIKF
NVGMNGYYIV HYEDDGWDSL TGLLKGTHTA VSSNDRASLI NNAFQLVSIG KLSIEKALDL
SLYLKHETEI MPVFQGLNEL IPMYKLMEKR DMNEVETQFK AFLIRLLRDL IDKQTWTDEG
SVSERMLRSQ LLLLACVHNY QPCVQRAEGY FRKWKESNGN LSLPVDVTLA VFAVGAQSTE
GWDFLYSKYQ FSLSSTEKSQ IEFALCRTQN KEKLQWLLDE SFKGDKIKTQ EFPQILTLIG
RNPVGYPLAW QFLRKNWNKL VQKFELGSSS IAHMVMGTTN QFSTRTRLEE VKGFFSSLKE
NGSQLRCVQQ TIETIEENIG WMDKNFDKIR VWLQSEKLEH DPEADATG*

mutated AA sequence

MVFLPLKWSL ATMSFLLSSL LALLTVSTPS WCQSTEASPK RSDGTPFPWN KIRLPEYVIP
VHYDLLIHAN LTTLTFWGTT KVEITASQPT STIILHSHHL QISRATLRKG AGERLSEEPL
QVLEHPRQEQ IALLAPEPLL VGLPYTVVIH YAGNLSETFH GFYKSTYRTK EGELRILAST
QFEPTAARMA FPCFDEPAFK ASFSIKIRRE PRHLAISNMP LVKSVTVAEG LIEDHFDVTV
KMSTYLVAFI ISDFESVSKI TKSGVKVSVY AVPDKINQAD YALDAAVTLL EFYEDYFSIP
YPLPKQDLAA IPDFQSGAME NWGLTTYRES ALLFDAEKSS ASSKLGITMT VAHELAHQWF
GNLVTMEWWN DLWLNEGFAK FMEFVSVSVT HPELKVGDYF FGKCFDAMEV DALNSSHPVS
TPVENPAQIR EMFDDVSYDK GACILNMLRE YLSADAFKSG IVQYLQKHSY KNTKNEDLWD
SMASICPTDG VKGMDGFCSR SQHSSSSSHW HQEGVDVKTM MNTWTLQKGF PLITITVRGR
NVHMKQEHYM KGSDGAPDTG YLWHVPLTFI TSKSDMVHRF LLKTKTDVLI LPEEVEWIKF
NVGMNGYYIV HYEDDGWDSL TGLLKGTHTA VSSNDRASLI NNAFQLVSIG KLSIEKALDL
SLYLKHETEI MPVFQGLNEL IPMYKLMEKR DMNEVETQFK AFLIRLLRDL IDKQTWTDEG
SVSERMLRSE LLLLACVHNY QPCVQRAEGY FRKWKESNGN LSLPVDVTLA VFAVGAQSTE
GWDFLYSKYQ FSLSSTEKSQ IEFALCRTQN KEKLQWLLDE SFKGDKIKTQ EFPQILTLIG
RNPVGYPLAW QFLRKNWNKL VQKFELGSSS IAHMVMGTTN QFSTRTRLEE VKGFFSSLKE
NGSQLRCVQQ TIETIEENIG WMDKNFDKIR VWLQSEKLEH DPEADATG*

speed

1.39 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: 0.999813032669804 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM078286)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:96118852G>CN/A show variant in all transcripts IGV

HGNC symbol

ERAP1

Ensembl transcript ID

ENST00000443439

Genbank transcript ID

NM_001040458

UniProt peptide

Q9NZ08

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2188C>G
cDNA.2255C>G
g.24952C>G

AA changes

Q730E Score: 29 explain score(s)

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

730

frameshift

known variant

Reference ID: rs27044

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1187	1028	2215
ExAC	29447	-26127	3320

known disease mutation at this position, please check HGMD for details (HGMD ID CM078286)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.909	0.764
	0.934	0.592
(flanking)	-1.428	0.161

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	24949	wt: 0.9956 / mu: 0.9965 (marginal change - not scored)	wt: TGCGGAGTCAACTAC mu: TGCGGAGTGAACTAC	CGGA\|gtca
Donor gained	24946	0.33	mu: TGCTGCGGAGTGAAC	CTGC\|ggag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

730

mutated

all conserved

730

Ptroglodytes

all identical

ENSPTRG00000017095

730

Mmulatta

no homologue

Fcatus

all conserved

ENSFCAG00000004966

730

Mmusculus

all identical

ENSMUSG00000021583

719

Ggallus

not conserved

ENSGALG00000014684

591

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000021859

744

Dmelanogaster

all conserved

FBgn0039064

913

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
22	941	TOPO_DOM	Lumenal (Potential).	lost
722	737	HELIX		lost
736	736	DISULFID		might get lost (downstream of altered splice site)
741	756	HELIX		might get lost (downstream of altered splice site)
743	743	DISULFID		might get lost (downstream of altered splice site)
757	759	TURN		might get lost (downstream of altered splice site)
760	760	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
765	767	HELIX		might get lost (downstream of altered splice site)
768	775	HELIX		might get lost (downstream of altered splice site)
779	791	HELIX		might get lost (downstream of altered splice site)
795	805	HELIX		might get lost (downstream of altered splice site)
811	823	HELIX		might get lost (downstream of altered splice site)
824	827	STRAND		might get lost (downstream of altered splice site)
829	831	HELIX		might get lost (downstream of altered splice site)
832	840	HELIX		might get lost (downstream of altered splice site)
843	845	TURN		might get lost (downstream of altered splice site)
846	864	HELIX		might get lost (downstream of altered splice site)
869	877	HELIX		might get lost (downstream of altered splice site)
878	881	TURN		might get lost (downstream of altered splice site)
885	896	HELIX		might get lost (downstream of altered splice site)
897	900	TURN		might get lost (downstream of altered splice site)
901	901	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
902	904	TURN		might get lost (downstream of altered splice site)
906	941	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2826 / 2826

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

942 / 942

position of stopcodon in wt / mu cDNA

2893 / 2893

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

68 / 68

chromosome

strand

-1

last intron/exon boundary

2738

theoretical NMD boundary in CDS

2620

length of CDS

2826

coding sequence (CDS) position

2188

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

2255

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

24952

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

96118852

original gDNA sequence snippet

CAGAGCGAATGCTGCGGAGTCAACTACTACTCCTCGCCTGT

altered gDNA sequence snippet

CAGAGCGAATGCTGCGGAGTGAACTACTACTCCTCGCCTGT

original cDNA sequence snippet

CAGAGCGAATGCTGCGGAGTCAACTACTACTCCTCGCCTGT

altered cDNA sequence snippet

CAGAGCGAATGCTGCGGAGTGAACTACTACTCCTCGCCTGT

wildtype AA sequence

mutated AA sequence

MVFLPLKWSL ATMSFLLSSL LALLTVSTPS WCQSTEASPK RSDGTPFPWN KIRLPEYVIP
VHYDLLIHAN LTTLTFWGTT KVEITASQPT STIILHSHHL QISRATLRKG AGERLSEEPL
QVLEHPRQEQ IALLAPEPLL VGLPYTVVIH YAGNLSETFH GFYKSTYRTK EGELRILAST
QFEPTAARMA FPCFDEPAFK ASFSIKIRRE PRHLAISNMP LVKSVTVAEG LIEDHFDVTV
KMSTYLVAFI ISDFESVSKI TKSGVKVSVY AVPDKINQAD YALDAAVTLL EFYEDYFSIP
YPLPKQDLAA IPDFQSGAME NWGLTTYRES ALLFDAEKSS ASSKLGITMT VAHELAHQWF
GNLVTMEWWN DLWLNEGFAK FMEFVSVSVT HPELKVGDYF FGKCFDAMEV DALNSSHPVS
TPVENPAQIR EMFDDVSYDK GACILNMLRE YLSADAFKSG IVQYLQKHSY KNTKNEDLWD
SMASICPTDG VKGMDGFCSR SQHSSSSSHW HQEGVDVKTM MNTWTLQKGF PLITITVRGR
NVHMKQEHYM KGSDGAPDTG YLWHVPLTFI TSKSDMVHRF LLKTKTDVLI LPEEVEWIKF
NVGMNGYYIV HYEDDGWDSL TGLLKGTHTA VSSNDRASLI NNAFQLVSIG KLSIEKALDL
SLYLKHETEI MPVFQGLNEL IPMYKLMEKR DMNEVETQFK AFLIRLLRDL IDKQTWTDEG
SVSERMLRSE LLLLACVHNY QPCVQRAEGY FRKWKESNGN LSLPVDVTLA VFAVGAQSTE
GWDFLYSKYQ FSLSSTEKSQ IEFALCRTQN KEKLQWLLDE SFKGDKIKTQ EFPQILTLIG
RNPVGYPLAW QFLRKNWNKL VQKFELGSSS IAHMVMGTTN QFSTRTRLEE VKGFFSSLKE
NGSQLRCVQQ TIETIEENIG WMDKNFDKIR VWLQSEKLER M*

speed

1.51 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999813032669804 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM078286)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:96118852G>CN/A show variant in all transcripts IGV

HGNC symbol

ERAP1

Ensembl transcript ID

ENST00000414384

Genbank transcript ID

N/A

UniProt peptide

Q9NZ08

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2188C>G
cDNA.2285C>G
g.24952C>G

AA changes

Q730E Score: 29 explain score(s)

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

730

frameshift

known variant

Reference ID: rs27044

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1187	1028	2215
ExAC	29447	-26127	3320

known disease mutation at this position, please check HGMD for details (HGMD ID CM078286)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.909	0.764
	0.934	0.592
(flanking)	-1.428	0.161

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	24949	wt: 0.9956 / mu: 0.9965 (marginal change - not scored)	wt: TGCGGAGTCAACTAC mu: TGCGGAGTGAACTAC	CGGA\|gtca
Donor gained	24946	0.33	mu: TGCTGCGGAGTGAAC	CTGC\|ggag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

730

mutated

all conserved

730

Ptroglodytes

all identical

ENSPTRG00000017095

730

Mmulatta

no homologue

Fcatus

all conserved

ENSFCAG00000004966

730

Mmusculus

all identical

ENSMUSG00000021583

719

Ggallus

not conserved

ENSGALG00000014684

591

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000021859

744

Dmelanogaster

all conserved

FBgn0039064

913

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
22	941	TOPO_DOM	Lumenal (Potential).	lost
722	737	HELIX		lost
736	736	DISULFID		might get lost (downstream of altered splice site)
741	756	HELIX		might get lost (downstream of altered splice site)
743	743	DISULFID		might get lost (downstream of altered splice site)
757	759	TURN		might get lost (downstream of altered splice site)
760	760	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
765	767	HELIX		might get lost (downstream of altered splice site)
768	775	HELIX		might get lost (downstream of altered splice site)
779	791	HELIX		might get lost (downstream of altered splice site)
795	805	HELIX		might get lost (downstream of altered splice site)
811	823	HELIX		might get lost (downstream of altered splice site)
824	827	STRAND		might get lost (downstream of altered splice site)
829	831	HELIX		might get lost (downstream of altered splice site)
832	840	HELIX		might get lost (downstream of altered splice site)
843	845	TURN		might get lost (downstream of altered splice site)
846	864	HELIX		might get lost (downstream of altered splice site)
869	877	HELIX		might get lost (downstream of altered splice site)
878	881	TURN		might get lost (downstream of altered splice site)
885	896	HELIX		might get lost (downstream of altered splice site)
897	900	TURN		might get lost (downstream of altered splice site)
901	901	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
902	904	TURN		might get lost (downstream of altered splice site)
906	941	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2826 / 2826

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

942 / 942

position of stopcodon in wt / mu cDNA

2923 / 2923

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

98 / 98

chromosome

strand

-1

last intron/exon boundary

3086

theoretical NMD boundary in CDS

2938

length of CDS

2826

coding sequence (CDS) position

2188

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

2285

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

24952

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

96118852

original gDNA sequence snippet

CAGAGCGAATGCTGCGGAGTCAACTACTACTCCTCGCCTGT

altered gDNA sequence snippet

CAGAGCGAATGCTGCGGAGTGAACTACTACTCCTCGCCTGT

original cDNA sequence snippet

CAGAGCGAATGCTGCGGAGTCAACTACTACTCCTCGCCTGT

altered cDNA sequence snippet

CAGAGCGAATGCTGCGGAGTGAACTACTACTCCTCGCCTGT

wildtype AA sequence

mutated AA sequence

MVFLPLKWSL ATMSFLLSSL LALLTVSTPS WCQSTEASPK RSDGTPFPWN KIRLPEYVIP
VHYDLLIHAN LTTLTFWGTT KVEITASQPT STIILHSHHL QISRATLRKG AGERLSEEPL
QVLEHPRQEQ IALLAPEPLL VGLPYTVVIH YAGNLSETFH GFYKSTYRTK EGELRILAST
QFEPTAARMA FPCFDEPAFK ASFSIKIRRE PRHLAISNMP LVKSVTVAEG LIEDHFDVTV
KMSTYLVAFI ISDFESVSKI TKSGVKVSVY AVPDKINQAD YALDAAVTLL EFYEDYFSIP
YPLPKQDLAA IPDFQSGAME NWGLTTYRES ALLFDAEKSS ASSKLGITMT VAHELAHQWF
GNLVTMEWWN DLWLNEGFAK FMEFVSVSVT HPELKVGDYF FGKCFDAMEV DALNSSHPVS
TPVENPAQIR EMFDDVSYDK GACILNMLRE YLSADAFKSG IVQYLQKHSY KNTKNEDLWD
SMASICPTDG VKGMDGFCSR SQHSSSSSHW HQEGVDVKTM MNTWTLQKGF PLITITVRGR
NVHMKQEHYM KGSDGAPDTG YLWHVPLTFI TSKSDMVHRF LLKTKTDVLI LPEEVEWIKF
NVGMNGYYIV HYEDDGWDSL TGLLKGTHTA VSSNDRASLI NNAFQLVSIG KLSIEKALDL
SLYLKHETEI MPVFQGLNEL IPMYKLMEKR DMNEVETQFK AFLIRLLRDL IDKQTWTDEG
SVSERMLRSE LLLLACVHNY QPCVQRAEGY FRKWKESNGN LSLPVDVTLA VFAVGAQSTE
GWDFLYSKYQ FSLSSTEKSQ IEFALCRTQN KEKLQWLLDE SFKGDKIKTQ EFPQILTLIG
RNPVGYPLAW QFLRKNWNKL VQKFELGSSS IAHMVMGTTN QFSTRTRLEE VKGFFSSLKE
NGSQLRCVQQ TIETIEENIG WMDKNFDKIR VWLQSEKLER M*

speed

1.28 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