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 6 transcript(s)...
Querying Taster for transcript #1: ENST00000543086
Querying Taster for transcript #2: ENST00000546231
Querying Taster for transcript #3: ENST00000360905
Querying Taster for transcript #4: ENST00000355446
Querying Taster for transcript #5: ENST00000397203
Querying Taster for transcript #6: ENST00000589028
MT speed 0 s - this script 5.286725 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ERC1	polymorphism_automatic	2.37802623204164e-06	simple_aae				T1004A	single base exchange	rs12319376		show file
ERC1	polymorphism_automatic	2.37802623204164e-06	simple_aae				T1036A	single base exchange	rs12319376		show file
ERC1	polymorphism_automatic	2.37802623204164e-06	simple_aae				T1032A	single base exchange	rs12319376		show file
ERC1	polymorphism_automatic	2.37802623204164e-06	simple_aae				T1032A	single base exchange	rs12319376		show file
ERC1	polymorphism_automatic	2.37802623204164e-06	simple_aae				T1032A	single base exchange	rs12319376		show file
ERC1	polymorphism_automatic	2.37802623204164e-06	simple_aae				T1032A	single base exchange	rs12319376		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999997621973768 (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)

chr12:1553797A>GN/A show variant in all transcripts IGV

HGNC symbol

ERC1

Ensembl transcript ID

ENST00000543086

Genbank transcript ID

NM_178039

UniProt peptide

Q8IUD2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3010A>G
cDNA.3281A>G
g.454123A>G

AA changes

T1004A Score: 58 explain score(s)

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

1004

frameshift

known variant

Reference ID: rs12319376

database	homozygous (G/G)	heterozygous	allele carriers
1000G	235	478	713
ExAC	1809	7372	9181

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.102	0.994
	1.021	0.997
(flanking)	2.91	1

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

1004

mutated

not conserved

1004

Ptroglodytes

not conserved

ENSPTRG00000004515

1032

Mmulatta

no alignment

ENSMMUG00000010933

n/a

Fcatus

not conserved

ENSFCAG00000006191

809

Mmusculus

not conserved

ENSMUSG00000030172

1036

Ggallus

no alignment

ENSGALG00000012994

n/a

Trubripes

not conserved

ENSTRUG00000012327

1045

Drerio

not conserved

ENSDARG00000031930

523

Dmelanogaster

no homologue

Celegans

no alignment

F42A6.9

n/a

Xtropicalis

not conserved

ENSXETG00000009409

1043

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3267 / 3267

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

1089 / 1089

position of stopcodon in wt / mu cDNA

3538 / 3538

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

272 / 272

chromosome

strand

last intron/exon boundary

3401

theoretical NMD boundary in CDS

3079

length of CDS

3267

coding sequence (CDS) position

3010

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

3281

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

454123

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

1553797

original gDNA sequence snippet

TGTACATTGGACACCTGACAACCCTCTGCCATGACCGAGAC

altered gDNA sequence snippet

TGTACATTGGACACCTGACAGCCCTCTGCCATGACCGAGAC

original cDNA sequence snippet

TGTACATTGGACACCTGACAACCCTCTGCCATGACCGAGAC

altered cDNA sequence snippet

TGTACATTGGACACCTGACAGCCCTCTGCCATGACCGAGAC

wildtype AA sequence

MYGSARSVGK VEPSSQSPGR SPRLPRSPRL GHRRTNSTGG SSGSSVGGGS GKTLSMENIQ
SLNAAYATSG PMYLSDHENV GSETPKSTMT LGRSGGRLPY GVRMTAMGSS PNIASSGVAS
DTIAFGEHHL PPVSMASTVP HSLRQARDNT IMDLQTQLKE VLRENDLLRK DVEVKESKLS
SSMNSIKTFW SPELKKERAL RKDEASKITI WKEQYRVVQE ENQHMQMTIQ ALQDELRIQR
DLNQLFQQDS SSRTGEPCVA ELTEENFQRL HAEHERQAKE LFLLRKTLEE MELRIETQKQ
TLNARDESIK KLLEMLQSKG LSAKATEEDH ERTRRLAEAE MHVHHLESLL EQKEKENSML
REEMHRRFEN APDSAKTKAL QTVIEMKDSK ISSMERGLRD LEEEIQMLKS NGALSTEERE
EEMKQMEVYR SHSKFMKNKI GQVKQELSRK DTELLALQTK LETLTNQFSD SKQHIEVLKE
SLTAKEQRAA ILQTEVDALR LRLEEKETML NKKTKQIQDM AEEKGTQAGE IHDLKDMLDV
KERKVNVLQK KIENLQEQLR DKEKQMSSLK ERVKSLQADT TNTDTALTTL EEALAEKERT
IERLKEQRDR DEREKQEEID NYKKDLKDLK EKVSLLQGDL SEKEASLLDL KEHASSLASS
GLKKDSRLKT LEIALEQKKE ECLKMESQLK KAHEAALEAR ASPEMSDRIQ HLEREITRYK
DESSKAQAEV DRLLEILKEV ENEKNDKDKK IAELERQVKD QNKKVANLKH KEQVEKKKSA
QMLEEARRRE DNLNDSSQQL QDSLRKKDDR IEELEEALRE SVQITAEREM VLAQEESART
NAEKQVEELL MAMEKVKQEL ESMKAKLSST QQSLAEKETH LTNLRAERRK HLEEVLEMKQ
EALLAAISEK DANIALLELS SSKKKTQEEV AALKREKDRL VQQLKQQTQN RMKLMADNYE
DDHFKSSHSN QTNHKPSPDQ IIQPLLELDQ NRSKLKLYIG HLTTLCHDRD PLILRGLTPP
ASYNLDDDQA AWENELQKMT RGQLQDELEK GERDNAELQE FANAILQQIA DHCPDILEQV
VNALEESS*

mutated AA sequence

MYGSARSVGK VEPSSQSPGR SPRLPRSPRL GHRRTNSTGG SSGSSVGGGS GKTLSMENIQ
SLNAAYATSG PMYLSDHENV GSETPKSTMT LGRSGGRLPY GVRMTAMGSS PNIASSGVAS
DTIAFGEHHL PPVSMASTVP HSLRQARDNT IMDLQTQLKE VLRENDLLRK DVEVKESKLS
SSMNSIKTFW SPELKKERAL RKDEASKITI WKEQYRVVQE ENQHMQMTIQ ALQDELRIQR
DLNQLFQQDS SSRTGEPCVA ELTEENFQRL HAEHERQAKE LFLLRKTLEE MELRIETQKQ
TLNARDESIK KLLEMLQSKG LSAKATEEDH ERTRRLAEAE MHVHHLESLL EQKEKENSML
REEMHRRFEN APDSAKTKAL QTVIEMKDSK ISSMERGLRD LEEEIQMLKS NGALSTEERE
EEMKQMEVYR SHSKFMKNKI GQVKQELSRK DTELLALQTK LETLTNQFSD SKQHIEVLKE
SLTAKEQRAA ILQTEVDALR LRLEEKETML NKKTKQIQDM AEEKGTQAGE IHDLKDMLDV
KERKVNVLQK KIENLQEQLR DKEKQMSSLK ERVKSLQADT TNTDTALTTL EEALAEKERT
IERLKEQRDR DEREKQEEID NYKKDLKDLK EKVSLLQGDL SEKEASLLDL KEHASSLASS
GLKKDSRLKT LEIALEQKKE ECLKMESQLK KAHEAALEAR ASPEMSDRIQ HLEREITRYK
DESSKAQAEV DRLLEILKEV ENEKNDKDKK IAELERQVKD QNKKVANLKH KEQVEKKKSA
QMLEEARRRE DNLNDSSQQL QDSLRKKDDR IEELEEALRE SVQITAEREM VLAQEESART
NAEKQVEELL MAMEKVKQEL ESMKAKLSST QQSLAEKETH LTNLRAERRK HLEEVLEMKQ
EALLAAISEK DANIALLELS SSKKKTQEEV AALKREKDRL VQQLKQQTQN RMKLMADNYE
DDHFKSSHSN QTNHKPSPDQ IIQPLLELDQ NRSKLKLYIG HLTALCHDRD PLILRGLTPP
ASYNLDDDQA AWENELQKMT RGQLQDELEK GERDNAELQE FANAILQQIA DHCPDILEQV
VNALEESS*

speed

1.09 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: 0.999997621973768 (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)

chr12:1553797A>GN/A show variant in all transcripts IGV

HGNC symbol

ERC1

Ensembl transcript ID

ENST00000546231

Genbank transcript ID

N/A

UniProt peptide

Q8IUD2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3106A>G
cDNA.3634A>G
g.454123A>G

AA changes

T1036A Score: 58 explain score(s)

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

1036

frameshift

known variant

Reference ID: rs12319376

database	homozygous (G/G)	heterozygous	allele carriers
1000G	235	478	713
ExAC	1809	7372	9181

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.102	0.994
	1.021	0.997
(flanking)	2.91	1

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

1036

mutated

not conserved

1036

Ptroglodytes

not conserved

ENSPTRG00000004515

1032

Mmulatta

no alignment

ENSMMUG00000010933

n/a

Fcatus

not conserved

ENSFCAG00000006191

809

Mmusculus

not conserved

ENSMUSG00000030172

1036

Ggallus

no alignment

ENSGALG00000012994

n/a

Trubripes

not conserved

ENSTRUG00000012327

1046

Drerio

not conserved

ENSDARG00000031930

523

Dmelanogaster

no homologue

Celegans

no alignment

F42A6.9

n/a

Xtropicalis

not conserved

ENSXETG00000009409

1043

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3363 / 3363

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

1121 / 1121

position of stopcodon in wt / mu cDNA

3891 / 3891

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

529 / 529

chromosome

strand

last intron/exon boundary

3754

theoretical NMD boundary in CDS

3175

length of CDS

3363

coding sequence (CDS) position

3106

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

3634

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

454123

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

1553797

original gDNA sequence snippet

TGTACATTGGACACCTGACAACCCTCTGCCATGACCGAGAC

altered gDNA sequence snippet

TGTACATTGGACACCTGACAGCCCTCTGCCATGACCGAGAC

original cDNA sequence snippet

TGTACATTGGACACCTGACAACCCTCTGCCATGACCGAGAC

altered cDNA sequence snippet

TGTACATTGGACACCTGACAGCCCTCTGCCATGACCGAGAC

wildtype AA sequence

MYGSARSVGK VEPSSQSPGR SPRLPRSPRL GHRRTNSTGG SSGSSVGGGS GKTLSMENIQ
SLNAAYATSG PMYLSDHENV GSETPKSTMT LGRSGGRLPY GVRMTAMGSS PNIASSGVAS
DTIAFGEHHL PPVSMASTVP HSLRQARDNT IMDLQTQLKE VLRENDLLRK DVEVKESKLS
SSMNSIKTFW SPELKKERAL RKDEASKITI WKEQYRVVQE ENQHMQMTIQ ALQDELRIQR
DLNQLFQQDS SSRTGEPCVA ELTEENFQRL HAEHERQAKE LFLLRKTLEE MELRIETQKQ
TLNARDESIK KLLEMLQSKG LSAKATEEDH ERTRRLAEAE MHVHHLESLL EQKEKENSML
REEMHRRFEN APDSAKTKAL QTVIEMKDSK ISSMERGLRD LEEEIQMLKS NGALSTEERE
EEMKQMEVYR SHSKFMKNKV EQLKEELSSK EAQWEELKKK AAGLQAEIGQ VKQELSRKDT
ELLALQTKLE TLTNQFSDSK QHIEVLKESL TAKEQRAAIL QTEVDALRLR LEEKETMLNK
KTKQIQDMAE EKGTQAGEIH DLKDMLDVKE RKVNVLQKKI ENLQEQLRDK EKQMSSLKER
VKSLQADTTN TDTALTTLEE ALAEKERTIE RLKEQRDRDE REKQEEIDNY KKDLKDLKEK
VSLLQGDLSE KEASLLDLKE HASSLASSGL KKDSRLKTLE IALEQKKEEC LKMESQLKKA
HEAALEARAS PEMSDRIQHL EREITRYKDE SSKAQAEVDR LLEILKEVEN EKNDKDKKIA
ELESLTSRQV KDQNKKVANL KHKEQVEKKK SAQMLEEARR REDNLNDSSQ QLQDSLRKKD
DRIEELEEAL RESVQITAER EMVLAQEESA RTNAEKQVEE LLMAMEKVKQ ELESMKAKLS
STQQSLAEKE THLTNLRAER RKHLEEVLEM KQEALLAAIS EKDANIALLE LSSSKKKTQE
EVAALKREKD RLVQQLKQQT QNRMKLMADN YEDDHFKSSH SNQTNHKPSP DQIIQPLLEL
DQNRSKLKLY IGHLTTLCHD RDPLILRGLT PPASYNLDDD QAAWENELQK MTRGQLQDEL
EKGERDNAEL QEFANAILQQ IADHCPDILE QVVNALEESS *

mutated AA sequence

MYGSARSVGK VEPSSQSPGR SPRLPRSPRL GHRRTNSTGG SSGSSVGGGS GKTLSMENIQ
SLNAAYATSG PMYLSDHENV GSETPKSTMT LGRSGGRLPY GVRMTAMGSS PNIASSGVAS
DTIAFGEHHL PPVSMASTVP HSLRQARDNT IMDLQTQLKE VLRENDLLRK DVEVKESKLS
SSMNSIKTFW SPELKKERAL RKDEASKITI WKEQYRVVQE ENQHMQMTIQ ALQDELRIQR
DLNQLFQQDS SSRTGEPCVA ELTEENFQRL HAEHERQAKE LFLLRKTLEE MELRIETQKQ
TLNARDESIK KLLEMLQSKG LSAKATEEDH ERTRRLAEAE MHVHHLESLL EQKEKENSML
REEMHRRFEN APDSAKTKAL QTVIEMKDSK ISSMERGLRD LEEEIQMLKS NGALSTEERE
EEMKQMEVYR SHSKFMKNKV EQLKEELSSK EAQWEELKKK AAGLQAEIGQ VKQELSRKDT
ELLALQTKLE TLTNQFSDSK QHIEVLKESL TAKEQRAAIL QTEVDALRLR LEEKETMLNK
KTKQIQDMAE EKGTQAGEIH DLKDMLDVKE RKVNVLQKKI ENLQEQLRDK EKQMSSLKER
VKSLQADTTN TDTALTTLEE ALAEKERTIE RLKEQRDRDE REKQEEIDNY KKDLKDLKEK
VSLLQGDLSE KEASLLDLKE HASSLASSGL KKDSRLKTLE IALEQKKEEC LKMESQLKKA
HEAALEARAS PEMSDRIQHL EREITRYKDE SSKAQAEVDR LLEILKEVEN EKNDKDKKIA
ELESLTSRQV KDQNKKVANL KHKEQVEKKK SAQMLEEARR REDNLNDSSQ QLQDSLRKKD
DRIEELEEAL RESVQITAER EMVLAQEESA RTNAEKQVEE LLMAMEKVKQ ELESMKAKLS
STQQSLAEKE THLTNLRAER RKHLEEVLEM KQEALLAAIS EKDANIALLE LSSSKKKTQE
EVAALKREKD RLVQQLKQQT QNRMKLMADN YEDDHFKSSH SNQTNHKPSP DQIIQPLLEL
DQNRSKLKLY IGHLTALCHD RDPLILRGLT PPASYNLDDD QAAWENELQK MTRGQLQDEL
EKGERDNAEL QEFANAILQQ IADHCPDILE QVVNALEESS *

speed

1.10 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999997621973768 (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)

chr12:1553797A>GN/A show variant in all transcripts IGV

HGNC symbol

ERC1

Ensembl transcript ID

ENST00000355446

Genbank transcript ID

N/A

UniProt peptide

Q8IUD2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3094A>G
cDNA.3226A>G
g.454123A>G

AA changes

T1032A Score: 58 explain score(s)

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

1032

frameshift

known variant

Reference ID: rs12319376

database	homozygous (G/G)	heterozygous	allele carriers
1000G	235	478	713
ExAC	1809	7372	9181

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.102	0.994
	1.021	0.997
(flanking)	2.91	1

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

1032

mutated

not conserved

1032

Ptroglodytes

not conserved

ENSPTRG00000004515

1032

Mmulatta

no alignment

ENSMMUG00000010933

n/a

Fcatus

not conserved

ENSFCAG00000006191

809

Mmusculus

not conserved

ENSMUSG00000030172

1036

Ggallus

no alignment

ENSGALG00000012994

n/a

Trubripes

not conserved

ENSTRUG00000012327

1046

Drerio

not conserved

ENSDARG00000031930

523

Dmelanogaster

no homologue

Celegans

no alignment

F42A6.9

n/a

Xtropicalis

not conserved

ENSXETG00000009409

1043

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3261 / 3261

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

1087 / 1087

position of stopcodon in wt / mu cDNA

3393 / 3393

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

133 / 133

chromosome

strand

last intron/exon boundary

3402

theoretical NMD boundary in CDS

3219

length of CDS

3261

coding sequence (CDS) position

3094

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

3226

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

454123

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

1553797

original gDNA sequence snippet

TGTACATTGGACACCTGACAACCCTCTGCCATGACCGAGAC

altered gDNA sequence snippet

TGTACATTGGACACCTGACAGCCCTCTGCCATGACCGAGAC

original cDNA sequence snippet

TGTACATTGGACACCTGACAACCCTCTGCCATGACCGAGAC

altered cDNA sequence snippet

TGTACATTGGACACCTGACAGCCCTCTGCCATGACCGAGAC

wildtype AA sequence

MYGSARSVGK VEPSSQSPGR SPRLPRSPRL GHRRTNSTGG SSGSSVGGGS GKTLSMENIQ
SLNAAYATSG PMYLSDHENV GSETPKSTMT LGRSGGRLPY GVRMTAMGSS PNIASSGVAS
DTIAFGEHHL PPVSMASTVP HSLRQARDNT IMDLQTQLKE VLRENDLLRK DVEVKESKLS
SSMNSIKTFW SPELKKERAL RKDEASKITI WKEQYRVVQE ENQHMQMTIQ ALQDELRIQR
DLNQLFQQDS SSRTGEPCVA ELTEENFQRL HAEHERQAKE LFLLRKTLEE MELRIETQKQ
TLNARDESIK KLLEMLQSKG LSAKATEEDH ERTRRLAEAE MHVHHLESLL EQKEKENSML
REEMHRRFEN APDSAKTKAL QTVIEMKDSK ISSMERGLRD LEEEIQMLKS NGALSTEERE
EEMKQMEVYR SHSKFMKNKV EQLKEELSSK EAQWEELKKK AAGLQAEIGQ VKQELSRKDT
ELLALQTKLE TLTNQFSDSK QHIEVLKESL TAKEQRAAIL QTEVDALRLR LEEKETMLNK
KTKQIQDMAE EKGTQAGEIH DLKDMLDVKE RKVNVLQKKI ENLQEQLRDK EKQMSSLKER
VKSLQADTTN TDTALTTLEE ALAEKERTIE RLKEQRDRDE REKQEEIDNY KKDLKDLKEK
VSLLQGDLSE KEASLLDLKE HASSLASSGL KKDSRLKTLE IALEQKKEEC LKMESQLKKA
HEAALEARAS PEMSDRIQHL EREITRYKDE SSKAQAEVDR LLEILKEVEN EKNDKDKKIA
ELERQVKDQN KKVANLKHKE QVEKKKSAQM LEEARRREDN LNDSSQQLQD SLRKKDDRIE
ELEEALRESV QITAEREMVL AQEESARTNA EKQVEELLMA MEKVKQELES MKAKLSSTQQ
SLAEKETHLT NLRAERRKHL EEVLEMKQEA LLAAISEKDA NIALLELSSS KKKTQEEVAA
LKREKDRLVQ QLKQQTQNRM KLMADNYEDD HFKSSHSNQT NHKPSPDQII QPLLELDQNR
SKLKLYIGHL TTLCHDRDPL ILRGLTPPAS YNLDDDQAAW ENELQKMTRG QNPLHPKAME
KLPFFM*

mutated AA sequence

MYGSARSVGK VEPSSQSPGR SPRLPRSPRL GHRRTNSTGG SSGSSVGGGS GKTLSMENIQ
SLNAAYATSG PMYLSDHENV GSETPKSTMT LGRSGGRLPY GVRMTAMGSS PNIASSGVAS
DTIAFGEHHL PPVSMASTVP HSLRQARDNT IMDLQTQLKE VLRENDLLRK DVEVKESKLS
SSMNSIKTFW SPELKKERAL RKDEASKITI WKEQYRVVQE ENQHMQMTIQ ALQDELRIQR
DLNQLFQQDS SSRTGEPCVA ELTEENFQRL HAEHERQAKE LFLLRKTLEE MELRIETQKQ
TLNARDESIK KLLEMLQSKG LSAKATEEDH ERTRRLAEAE MHVHHLESLL EQKEKENSML
REEMHRRFEN APDSAKTKAL QTVIEMKDSK ISSMERGLRD LEEEIQMLKS NGALSTEERE
EEMKQMEVYR SHSKFMKNKV EQLKEELSSK EAQWEELKKK AAGLQAEIGQ VKQELSRKDT
ELLALQTKLE TLTNQFSDSK QHIEVLKESL TAKEQRAAIL QTEVDALRLR LEEKETMLNK
KTKQIQDMAE EKGTQAGEIH DLKDMLDVKE RKVNVLQKKI ENLQEQLRDK EKQMSSLKER
VKSLQADTTN TDTALTTLEE ALAEKERTIE RLKEQRDRDE REKQEEIDNY KKDLKDLKEK
VSLLQGDLSE KEASLLDLKE HASSLASSGL KKDSRLKTLE IALEQKKEEC LKMESQLKKA
HEAALEARAS PEMSDRIQHL EREITRYKDE SSKAQAEVDR LLEILKEVEN EKNDKDKKIA
ELERQVKDQN KKVANLKHKE QVEKKKSAQM LEEARRREDN LNDSSQQLQD SLRKKDDRIE
ELEEALRESV QITAEREMVL AQEESARTNA EKQVEELLMA MEKVKQELES MKAKLSSTQQ
SLAEKETHLT NLRAERRKHL EEVLEMKQEA LLAAISEKDA NIALLELSSS KKKTQEEVAA
LKREKDRLVQ QLKQQTQNRM KLMADNYEDD HFKSSHSNQT NHKPSPDQII QPLLELDQNR
SKLKLYIGHL TALCHDRDPL ILRGLTPPAS YNLDDDQAAW ENELQKMTRG QNPLHPKAME
KLPFFM*

speed

1.07 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999997621973768 (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)

chr12:1553797A>GN/A show variant in all transcripts IGV

HGNC symbol

ERC1

Ensembl transcript ID

ENST00000360905

Genbank transcript ID

N/A

UniProt peptide

Q8IUD2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3094A>G
cDNA.3275A>G
g.454123A>G

AA changes

T1032A Score: 58 explain score(s)

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

1032

frameshift

known variant

Reference ID: rs12319376

database	homozygous (G/G)	heterozygous	allele carriers
1000G	235	478	713
ExAC	1809	7372	9181

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.102	0.994
	1.021	0.997
(flanking)	2.91	1

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

1032

mutated

not conserved

1032

Ptroglodytes

not conserved

ENSPTRG00000004515

1032

Mmulatta

no alignment

ENSMMUG00000010933

n/a

Fcatus

not conserved

ENSFCAG00000006191

809

Mmusculus

not conserved

ENSMUSG00000030172

1036

Ggallus

no alignment

ENSGALG00000012994

n/a

Trubripes

not conserved

ENSTRUG00000012327

1046

Drerio

not conserved

ENSDARG00000031930

523

Dmelanogaster

no homologue

Celegans

no alignment

F42A6.9

n/a

Xtropicalis

not conserved

ENSXETG00000009409

1043

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3351 / 3351

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

1117 / 1117

position of stopcodon in wt / mu cDNA

3532 / 3532

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

182 / 182

chromosome

strand

last intron/exon boundary

3395

theoretical NMD boundary in CDS

3163

length of CDS

3351

coding sequence (CDS) position

3094

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

3275

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

454123

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

1553797

original gDNA sequence snippet

TGTACATTGGACACCTGACAACCCTCTGCCATGACCGAGAC

altered gDNA sequence snippet

TGTACATTGGACACCTGACAGCCCTCTGCCATGACCGAGAC

original cDNA sequence snippet

TGTACATTGGACACCTGACAACCCTCTGCCATGACCGAGAC

altered cDNA sequence snippet

TGTACATTGGACACCTGACAGCCCTCTGCCATGACCGAGAC

wildtype AA sequence

MYGSARSVGK VEPSSQSPGR SPRLPRSPRL GHRRTNSTGG SSGSSVGGGS GKTLSMENIQ
SLNAAYATSG PMYLSDHENV GSETPKSTMT LGRSGGRLPY GVRMTAMGSS PNIASSGVAS
DTIAFGEHHL PPVSMASTVP HSLRQARDNT IMDLQTQLKE VLRENDLLRK DVEVKESKLS
SSMNSIKTFW SPELKKERAL RKDEASKITI WKEQYRVVQE ENQHMQMTIQ ALQDELRIQR
DLNQLFQQDS SSRTGEPCVA ELTEENFQRL HAEHERQAKE LFLLRKTLEE MELRIETQKQ
TLNARDESIK KLLEMLQSKG LSAKATEEDH ERTRRLAEAE MHVHHLESLL EQKEKENSML
REEMHRRFEN APDSAKTKAL QTVIEMKDSK ISSMERGLRD LEEEIQMLKS NGALSTEERE
EEMKQMEVYR SHSKFMKNKV EQLKEELSSK EAQWEELKKK AAGLQAEIGQ VKQELSRKDT
ELLALQTKLE TLTNQFSDSK QHIEVLKESL TAKEQRAAIL QTEVDALRLR LEEKETMLNK
KTKQIQDMAE EKGTQAGEIH DLKDMLDVKE RKVNVLQKKI ENLQEQLRDK EKQMSSLKER
VKSLQADTTN TDTALTTLEE ALAEKERTIE RLKEQRDRDE REKQEEIDNY KKDLKDLKEK
VSLLQGDLSE KEASLLDLKE HASSLASSGL KKDSRLKTLE IALEQKKEEC LKMESQLKKA
HEAALEARAS PEMSDRIQHL EREITRYKDE SSKAQAEVDR LLEILKEVEN EKNDKDKKIA
ELERQVKDQN KKVANLKHKE QVEKKKSAQM LEEARRREDN LNDSSQQLQD SLRKKDDRIE
ELEEALRESV QITAEREMVL AQEESARTNA EKQVEELLMA MEKVKQELES MKAKLSSTQQ
SLAEKETHLT NLRAERRKHL EEVLEMKQEA LLAAISEKDA NIALLELSSS KKKTQEEVAA
LKREKDRLVQ QLKQQTQNRM KLMADNYEDD HFKSSHSNQT NHKPSPDQII QPLLELDQNR
SKLKLYIGHL TTLCHDRDPL ILRGLTPPAS YNLDDDQAAW ENELQKMTRG QLQDELEKGE
RDNAELQEFA NAILQQIADH CPDILEQVVN ALEESS*

mutated AA sequence

MYGSARSVGK VEPSSQSPGR SPRLPRSPRL GHRRTNSTGG SSGSSVGGGS GKTLSMENIQ
SLNAAYATSG PMYLSDHENV GSETPKSTMT LGRSGGRLPY GVRMTAMGSS PNIASSGVAS
DTIAFGEHHL PPVSMASTVP HSLRQARDNT IMDLQTQLKE VLRENDLLRK DVEVKESKLS
SSMNSIKTFW SPELKKERAL RKDEASKITI WKEQYRVVQE ENQHMQMTIQ ALQDELRIQR
DLNQLFQQDS SSRTGEPCVA ELTEENFQRL HAEHERQAKE LFLLRKTLEE MELRIETQKQ
TLNARDESIK KLLEMLQSKG LSAKATEEDH ERTRRLAEAE MHVHHLESLL EQKEKENSML
REEMHRRFEN APDSAKTKAL QTVIEMKDSK ISSMERGLRD LEEEIQMLKS NGALSTEERE
EEMKQMEVYR SHSKFMKNKV EQLKEELSSK EAQWEELKKK AAGLQAEIGQ VKQELSRKDT
ELLALQTKLE TLTNQFSDSK QHIEVLKESL TAKEQRAAIL QTEVDALRLR LEEKETMLNK
KTKQIQDMAE EKGTQAGEIH DLKDMLDVKE RKVNVLQKKI ENLQEQLRDK EKQMSSLKER
VKSLQADTTN TDTALTTLEE ALAEKERTIE RLKEQRDRDE REKQEEIDNY KKDLKDLKEK
VSLLQGDLSE KEASLLDLKE HASSLASSGL KKDSRLKTLE IALEQKKEEC LKMESQLKKA
HEAALEARAS PEMSDRIQHL EREITRYKDE SSKAQAEVDR LLEILKEVEN EKNDKDKKIA
ELERQVKDQN KKVANLKHKE QVEKKKSAQM LEEARRREDN LNDSSQQLQD SLRKKDDRIE
ELEEALRESV QITAEREMVL AQEESARTNA EKQVEELLMA MEKVKQELES MKAKLSSTQQ
SLAEKETHLT NLRAERRKHL EEVLEMKQEA LLAAISEKDA NIALLELSSS KKKTQEEVAA
LKREKDRLVQ QLKQQTQNRM KLMADNYEDD HFKSSHSNQT NHKPSPDQII QPLLELDQNR
SKLKLYIGHL TALCHDRDPL ILRGLTPPAS YNLDDDQAAW ENELQKMTRG QLQDELEKGE
RDNAELQEFA NAILQQIADH CPDILEQVVN ALEESS*

speed

1.08 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999997621973768 (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)

chr12:1553797A>GN/A show variant in all transcripts IGV

HGNC symbol

ERC1

Ensembl transcript ID

ENST00000397203

Genbank transcript ID

NM_178040

UniProt peptide

Q8IUD2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3094A>G
cDNA.3500A>G
g.454123A>G

AA changes

T1032A Score: 58 explain score(s)

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

1032

frameshift

known variant

Reference ID: rs12319376

database	homozygous (G/G)	heterozygous	allele carriers
1000G	235	478	713
ExAC	1809	7372	9181

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.102	0.994
	1.021	0.997
(flanking)	2.91	1

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

1032

mutated

not conserved

1032

Ptroglodytes

not conserved

ENSPTRG00000004515

1032

Mmulatta

no alignment

ENSMMUG00000010933

n/a

Fcatus

not conserved

ENSFCAG00000006191

809

Mmusculus

not conserved

ENSMUSG00000030172

1036

Ggallus

no alignment

ENSGALG00000012994

n/a

Trubripes

not conserved

ENSTRUG00000012327

1046

Drerio

not conserved

ENSDARG00000031930

523

Dmelanogaster

no homologue

Celegans

no alignment

F42A6.9

n/a

Xtropicalis

not conserved

ENSXETG00000009409

1043

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3351 / 3351

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

1117 / 1117

position of stopcodon in wt / mu cDNA

3757 / 3757

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

407 / 407

chromosome

strand

last intron/exon boundary

3620

theoretical NMD boundary in CDS

3163

length of CDS

3351

coding sequence (CDS) position

3094

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

3500

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

454123

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

1553797

original gDNA sequence snippet

TGTACATTGGACACCTGACAACCCTCTGCCATGACCGAGAC

altered gDNA sequence snippet

TGTACATTGGACACCTGACAGCCCTCTGCCATGACCGAGAC

original cDNA sequence snippet

TGTACATTGGACACCTGACAACCCTCTGCCATGACCGAGAC

altered cDNA sequence snippet

TGTACATTGGACACCTGACAGCCCTCTGCCATGACCGAGAC

wildtype AA sequence

MYGSARSVGK VEPSSQSPGR SPRLPRSPRL GHRRTNSTGG SSGSSVGGGS GKTLSMENIQ
SLNAAYATSG PMYLSDHENV GSETPKSTMT LGRSGGRLPY GVRMTAMGSS PNIASSGVAS
DTIAFGEHHL PPVSMASTVP HSLRQARDNT IMDLQTQLKE VLRENDLLRK DVEVKESKLS
SSMNSIKTFW SPELKKERAL RKDEASKITI WKEQYRVVQE ENQHMQMTIQ ALQDELRIQR
DLNQLFQQDS SSRTGEPCVA ELTEENFQRL HAEHERQAKE LFLLRKTLEE MELRIETQKQ
TLNARDESIK KLLEMLQSKG LSAKATEEDH ERTRRLAEAE MHVHHLESLL EQKEKENSML
REEMHRRFEN APDSAKTKAL QTVIEMKDSK ISSMERGLRD LEEEIQMLKS NGALSTEERE
EEMKQMEVYR SHSKFMKNKV EQLKEELSSK EAQWEELKKK AAGLQAEIGQ VKQELSRKDT
ELLALQTKLE TLTNQFSDSK QHIEVLKESL TAKEQRAAIL QTEVDALRLR LEEKETMLNK
KTKQIQDMAE EKGTQAGEIH DLKDMLDVKE RKVNVLQKKI ENLQEQLRDK EKQMSSLKER
VKSLQADTTN TDTALTTLEE ALAEKERTIE RLKEQRDRDE REKQEEIDNY KKDLKDLKEK
VSLLQGDLSE KEASLLDLKE HASSLASSGL KKDSRLKTLE IALEQKKEEC LKMESQLKKA
HEAALEARAS PEMSDRIQHL EREITRYKDE SSKAQAEVDR LLEILKEVEN EKNDKDKKIA
ELERQVKDQN KKVANLKHKE QVEKKKSAQM LEEARRREDN LNDSSQQLQD SLRKKDDRIE
ELEEALRESV QITAEREMVL AQEESARTNA EKQVEELLMA MEKVKQELES MKAKLSSTQQ
SLAEKETHLT NLRAERRKHL EEVLEMKQEA LLAAISEKDA NIALLELSSS KKKTQEEVAA
LKREKDRLVQ QLKQQTQNRM KLMADNYEDD HFKSSHSNQT NHKPSPDQII QPLLELDQNR
SKLKLYIGHL TTLCHDRDPL ILRGLTPPAS YNLDDDQAAW ENELQKMTRG QLQDELEKGE
RDNAELQEFA NAILQQIADH CPDILEQVVN ALEESS*

mutated AA sequence

MYGSARSVGK VEPSSQSPGR SPRLPRSPRL GHRRTNSTGG SSGSSVGGGS GKTLSMENIQ
SLNAAYATSG PMYLSDHENV GSETPKSTMT LGRSGGRLPY GVRMTAMGSS PNIASSGVAS
DTIAFGEHHL PPVSMASTVP HSLRQARDNT IMDLQTQLKE VLRENDLLRK DVEVKESKLS
SSMNSIKTFW SPELKKERAL RKDEASKITI WKEQYRVVQE ENQHMQMTIQ ALQDELRIQR
DLNQLFQQDS SSRTGEPCVA ELTEENFQRL HAEHERQAKE LFLLRKTLEE MELRIETQKQ
TLNARDESIK KLLEMLQSKG LSAKATEEDH ERTRRLAEAE MHVHHLESLL EQKEKENSML
REEMHRRFEN APDSAKTKAL QTVIEMKDSK ISSMERGLRD LEEEIQMLKS NGALSTEERE
EEMKQMEVYR SHSKFMKNKV EQLKEELSSK EAQWEELKKK AAGLQAEIGQ VKQELSRKDT
ELLALQTKLE TLTNQFSDSK QHIEVLKESL TAKEQRAAIL QTEVDALRLR LEEKETMLNK
KTKQIQDMAE EKGTQAGEIH DLKDMLDVKE RKVNVLQKKI ENLQEQLRDK EKQMSSLKER
VKSLQADTTN TDTALTTLEE ALAEKERTIE RLKEQRDRDE REKQEEIDNY KKDLKDLKEK
VSLLQGDLSE KEASLLDLKE HASSLASSGL KKDSRLKTLE IALEQKKEEC LKMESQLKKA
HEAALEARAS PEMSDRIQHL EREITRYKDE SSKAQAEVDR LLEILKEVEN EKNDKDKKIA
ELERQVKDQN KKVANLKHKE QVEKKKSAQM LEEARRREDN LNDSSQQLQD SLRKKDDRIE
ELEEALRESV QITAEREMVL AQEESARTNA EKQVEELLMA MEKVKQELES MKAKLSSTQQ
SLAEKETHLT NLRAERRKHL EEVLEMKQEA LLAAISEKDA NIALLELSSS KKKTQEEVAA
LKREKDRLVQ QLKQQTQNRM KLMADNYEDD HFKSSHSNQT NHKPSPDQII QPLLELDQNR
SKLKLYIGHL TALCHDRDPL ILRGLTPPAS YNLDDDQAAW ENELQKMTRG QLQDELEKGE
RDNAELQEFA NAILQQIADH CPDILEQVVN ALEESS*

speed

1.09 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999997621973768 (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)

chr12:1553797A>GN/A show variant in all transcripts IGV

HGNC symbol

ERC1

Ensembl transcript ID

ENST00000589028

Genbank transcript ID

NM_178040

UniProt peptide

Q8IUD2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3094A>G
cDNA.3251A>G
g.454123A>G

AA changes

T1032A Score: 58 explain score(s)

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

1032

frameshift

known variant

Reference ID: rs12319376

database	homozygous (G/G)	heterozygous	allele carriers
1000G	235	478	713
ExAC	1809	7372	9181

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.102	0.994
	1.021	0.997
(flanking)	2.91	1

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

1032

mutated

not conserved

1032

Ptroglodytes

not conserved

ENSPTRG00000004515

1032

Mmulatta

no alignment

ENSMMUG00000010933

n/a

Fcatus

not conserved

ENSFCAG00000006191

809

Mmusculus

not conserved

ENSMUSG00000030172

1036

Ggallus

no alignment

ENSGALG00000012994

n/a

Trubripes

not conserved

ENSTRUG00000012327

1046

Drerio

not conserved

ENSDARG00000031930

523

Dmelanogaster

no homologue

Celegans

no alignment

F42A6.9

n/a

Xtropicalis

not conserved

ENSXETG00000009409

1043

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3351 / 3351

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

1117 / 1117

position of stopcodon in wt / mu cDNA

3508 / 3508

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

158 / 158

chromosome

strand

last intron/exon boundary

3371

theoretical NMD boundary in CDS

3163

length of CDS

3351

coding sequence (CDS) position

3094

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

3251

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

454123

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

1553797

original gDNA sequence snippet

TGTACATTGGACACCTGACAACCCTCTGCCATGACCGAGAC

altered gDNA sequence snippet

TGTACATTGGACACCTGACAGCCCTCTGCCATGACCGAGAC

original cDNA sequence snippet

TGTACATTGGACACCTGACAACCCTCTGCCATGACCGAGAC

altered cDNA sequence snippet

TGTACATTGGACACCTGACAGCCCTCTGCCATGACCGAGAC

wildtype AA sequence

MYGSARSVGK VEPSSQSPGR SPRLPRSPRL GHRRTNSTGG SSGSSVGGGS GKTLSMENIQ
SLNAAYATSG PMYLSDHENV GSETPKSTMT LGRSGGRLPY GVRMTAMGSS PNIASSGVAS
DTIAFGEHHL PPVSMASTVP HSLRQARDNT IMDLQTQLKE VLRENDLLRK DVEVKESKLS
SSMNSIKTFW SPELKKERAL RKDEASKITI WKEQYRVVQE ENQHMQMTIQ ALQDELRIQR
DLNQLFQQDS SSRTGEPCVA ELTEENFQRL HAEHERQAKE LFLLRKTLEE MELRIETQKQ
TLNARDESIK KLLEMLQSKG LSAKATEEDH ERTRRLAEAE MHVHHLESLL EQKEKENSML
REEMHRRFEN APDSAKTKAL QTVIEMKDSK ISSMERGLRD LEEEIQMLKS NGALSTEERE
EEMKQMEVYR SHSKFMKNKV EQLKEELSSK EAQWEELKKK AAGLQAEIGQ VKQELSRKDT
ELLALQTKLE TLTNQFSDSK QHIEVLKESL TAKEQRAAIL QTEVDALRLR LEEKETMLNK
KTKQIQDMAE EKGTQAGEIH DLKDMLDVKE RKVNVLQKKI ENLQEQLRDK EKQMSSLKER
VKSLQADTTN TDTALTTLEE ALAEKERTIE RLKEQRDRDE REKQEEIDNY KKDLKDLKEK
VSLLQGDLSE KEASLLDLKE HASSLASSGL KKDSRLKTLE IALEQKKEEC LKMESQLKKA
HEAALEARAS PEMSDRIQHL EREITRYKDE SSKAQAEVDR LLEILKEVEN EKNDKDKKIA
ELERQVKDQN KKVANLKHKE QVEKKKSAQM LEEARRREDN LNDSSQQLQD SLRKKDDRIE
ELEEALRESV QITAEREMVL AQEESARTNA EKQVEELLMA MEKVKQELES MKAKLSSTQQ
SLAEKETHLT NLRAERRKHL EEVLEMKQEA LLAAISEKDA NIALLELSSS KKKTQEEVAA
LKREKDRLVQ QLKQQTQNRM KLMADNYEDD HFKSSHSNQT NHKPSPDQII QPLLELDQNR
SKLKLYIGHL TTLCHDRDPL ILRGLTPPAS YNLDDDQAAW ENELQKMTRG QLQDELEKGE
RDNAELQEFA NAILQQIADH CPDILEQVVN ALEESS*

mutated AA sequence

MYGSARSVGK VEPSSQSPGR SPRLPRSPRL GHRRTNSTGG SSGSSVGGGS GKTLSMENIQ
SLNAAYATSG PMYLSDHENV GSETPKSTMT LGRSGGRLPY GVRMTAMGSS PNIASSGVAS
DTIAFGEHHL PPVSMASTVP HSLRQARDNT IMDLQTQLKE VLRENDLLRK DVEVKESKLS
SSMNSIKTFW SPELKKERAL RKDEASKITI WKEQYRVVQE ENQHMQMTIQ ALQDELRIQR
DLNQLFQQDS SSRTGEPCVA ELTEENFQRL HAEHERQAKE LFLLRKTLEE MELRIETQKQ
TLNARDESIK KLLEMLQSKG LSAKATEEDH ERTRRLAEAE MHVHHLESLL EQKEKENSML
REEMHRRFEN APDSAKTKAL QTVIEMKDSK ISSMERGLRD LEEEIQMLKS NGALSTEERE
EEMKQMEVYR SHSKFMKNKV EQLKEELSSK EAQWEELKKK AAGLQAEIGQ VKQELSRKDT
ELLALQTKLE TLTNQFSDSK QHIEVLKESL TAKEQRAAIL QTEVDALRLR LEEKETMLNK
KTKQIQDMAE EKGTQAGEIH DLKDMLDVKE RKVNVLQKKI ENLQEQLRDK EKQMSSLKER
VKSLQADTTN TDTALTTLEE ALAEKERTIE RLKEQRDRDE REKQEEIDNY KKDLKDLKEK
VSLLQGDLSE KEASLLDLKE HASSLASSGL KKDSRLKTLE IALEQKKEEC LKMESQLKKA
HEAALEARAS PEMSDRIQHL EREITRYKDE SSKAQAEVDR LLEILKEVEN EKNDKDKKIA
ELERQVKDQN KKVANLKHKE QVEKKKSAQM LEEARRREDN LNDSSQQLQD SLRKKDDRIE
ELEEALRESV QITAEREMVL AQEESARTNA EKQVEELLMA MEKVKQELES MKAKLSSTQQ
SLAEKETHLT NLRAERRKHL EEVLEMKQEA LLAAISEKDA NIALLELSSS KKKTQEEVAA
LKREKDRLVQ QLKQQTQNRM KLMADNYEDD HFKSSHSNQT NHKPSPDQII QPLLELDQNR
SKLKLYIGHL TALCHDRDPL ILRGLTPPAS YNLDDDQAAW ENELQKMTRG QLQDELEKGE
RDNAELQEFA NAILQQIADH CPDILEQVVN ALEESS*

speed

1.01 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

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems