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 2 transcript(s)...
Querying Taster for transcript #1: ENST00000340645
Querying Taster for transcript #2: ENST00000393667
MT speed 0 s - this script 3.579638 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
GOLGB1	polymorphism_automatic	3.66040531218914e-13	simple_aae				G1765D	single base exchange	rs1127412		show file
GOLGB1	polymorphism_automatic	3.66040531218914e-13	simple_aae				G1770D	single base exchange	rs1127412		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999634 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:121414061C>TN/A show variant in all transcripts IGV

HGNC symbol

GOLGB1

Ensembl transcript ID

ENST00000340645

Genbank transcript ID

NM_001256488

UniProt peptide

Q14789

alteration type

single base exchange

alteration region

CDS

DNA changes

c.5294G>A
cDNA.5420G>A
g.54542G>A

AA changes

G1765D Score: 94 explain score(s)

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

1765

frameshift

known variant

Reference ID: rs1127412

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	3853	21342	25195

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.892	0
	-1.63	0
(flanking)	0.093	0.045

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	54540	wt: 0.7118 / mu: 0.7512 (marginal change - not scored)	wt: ATAGAAGGTAATGTA mu: ATAGAAGATAATGTA	AGAA\|ggta

distance from splice site

1474

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1765

mutated

not conserved

1765

Ptroglodytes

all identical

ENSPTRG00000015280

1765

Mmulatta

not conserved

ENSMMUG00000013546

1731

Fcatus

no alignment

ENSFCAG00000015525

n/a

Mmusculus

not conserved

ENSMUSG00000034243

1753

Ggallus

not conserved

ENSGALG00000009783

1302

IAQLLPET

GLT

EAETARLRRE

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000061951

2130

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000033340

1687

protein features

start (aa)	end (aa)	feature	details
1	3235	TOPO_DOM	Cytoplasmic (Potential).	lost
1301	1779	COILED	Potential.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

9780 / 9780

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

3260 / 3260

position of stopcodon in wt / mu cDNA

9906 / 9906

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

127 / 127

chromosome

strand

-1

last intron/exon boundary

9772

theoretical NMD boundary in CDS

9595

length of CDS

9780

coding sequence (CDS) position

5294

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

5420

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

54542

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

121414061

original gDNA sequence snippet

TTTAAAGCATCAGATAGAAGGTAATGTATCTAAACAAGCTA

altered gDNA sequence snippet

TTTAAAGCATCAGATAGAAGATAATGTATCTAAACAAGCTA

original cDNA sequence snippet

TTTAAAGCATCAGATAGAAGGTAATGTATCTAAACAAGCTA

altered cDNA sequence snippet

TTTAAAGCATCAGATAGAAGATAATGTATCTAAACAAGCTA

wildtype AA sequence

MLSRLSGLAN VVLHELSGDD DTDQNMRAPL DPELHQESDM EFNNTTQEDV QERLAYAEQL
VVELKDIIRQ KDVQLQQKDE ALQEERKAAD NKIKKLKLHA KAKLTSLNKY IEEMKAQGGT
VLPTEPQSEE QLSKHDKSST EEEMEIEKIK HKLQEKEELI STLQAQLTQA QAEQPAQSST
EMEEFVMMKQ QLQEKEEFIS TLQAQLSQTQ AEQAAQQVVR EKDARFETQV RLHEDELLQL
VTQADVETEM QQKLRVLQRK LEEHEESLVG RAQVVDLLQQ ELTAAEQRNQ ILSQQLQQME
AEHNTLRNTV ETEREESKIL LEKMELEVAE RKLSFHNLQE EMHHLLEQFE QAGQAQAELE
SRYSALEQKH KAEMEEKTSH ILSLQKTGQE LQSACDALKD QNSKLLQDKN EQAVQSAQTI
QQLEDQLQQK SKEISQFLNR LPLQQHETAS QTSFPDVYNE GTQAVTEENI ASLQKRVVEL
ENEKGALLLS SIELEELKAE NEKLSSQITL LEAQNRTGEA DREVSEISIV DIANKRSSSA
EESGQDVLEN TFSQKHKELS VLLLEMKEAQ EEIAFLKLQL QGKRAEEADH EVLDQKEMKQ
MEGEGIAPIK MKVFLEDTGQ DFPLMPNEES SLPAVEKEQA STEHQSRTSE EISLNDAGVE
LKSTKQDGDK SLSAVPDIGQ CHQDELERLK SQILELELNF HKAQEIYEKN LDEKAKEISN
LNQLIEEFKK NADNNSSAFT ALSEERDQLL SQVKELSMVT ELRAQVKQLE MNLAEAERQR
RLDYESQTAH DNLLTEQIHS LSIEAKSKDV KIEVLQNELD DVQLQFSEQS TLIRSLQSQL
QNKESEVLEG AERVRHISSK VEELSQALSQ KELEITKMDQ LLLEKKRDVE TLQQTIEEKD
QQVTEISFSM TEKMVQLNEE KFSLGVEIKT LKEQLNLLSR AEEAKKEQVE EDNEVSSGLK
QNYDEMSPAG QISKEELQHE FDLLKKENEQ RKRKLQAALI NRKELLQRVS RLEEELANLK
DESKKEIPLS ETERGEVEED KENKEYSEKC VTSKCQEIEI YLKQTISEKE VELQHIRKDL
EEKLAAEEQF QALVKQMNQT LQDKTNQIDL LQAEISENQA IIQKLITSNT DASDGDSVAL
VKETVVISPP CTGSSEHWKP ELEEKILALE KEKEQLQKKL QEALTSRKAI LKKAQEKERH
LREELKQQKD DYNRLQEQFD EQSKENENIG DQLRQLQIQV RESIDGKLPS TDQQESCSST
PGLEEPLFKA TEQHHTQPVL ESNLCPDWPS HSEDASALQG GTSVAQIKAQ LKEIEAEKVE
LELKVSSTTS ELTKKSEEVF QLQEQINKQG LEIESLKTVS HEAEVHAESL QQKLESSQLQ
IAGLEHLREL QPKLDELQKL ISKKEEDVSY LSGQLSEKEA ALTKIQTEII EQEDLIKALH
TQLEMQAKEH DERIKQLQVE LCEMKQKPEE IGEESRAKQQ IQRKLQAALI SRKEALKENK
SLQEELSLAR GTIERLTKSL ADVESQVSAQ NKEKDTVLGR LALLQEERDK LITEMDRSLL
ENQSLSSSCE SLKLALEGLT EDKEKLVKEI ESLKSSKIAE STEWQEKHKE LQKEYEILLQ
SYENVSNEAE RIQHVVEAVR QEKQELYGKL RSTEANKKET EKQLQEAEQE MEEMKEKMRK
FAKSKQQKIL ELEEENDRLR AEVHPAGDTA KECMETLLSS NASMKEELER VKMEYETLSK
KFQSLMSEKD SLSEEVQDLK HQIEGNVSKQ ANLEATEKHD NQTNVTEEGT QSIPGETEEQ
DSLSMSTRPT CSESVPSAKS ANPAVSKDFS SHDEINNYLQ QIDQLKERIA GLEEEKQKNK
EFSQTLENEK NTLLSQISTK DGELKMLQEE VTKMNLLNQQ IQEELSRVTK LKETAEEEKD
DLEERLMNQL AELNGSIGNY CQDVTDAQIK NELLESEMKN LKKCVSELEE EKQQLVKEKT
KVESEIRKEY LEKIQGAQKE PGNKSHAKEL QELLKEKQQE VKQLQKDCIR YQEKISALER
TVKALEFVQT ESQKDLEITK ENLAQAVEHR KKAQAELASF KVLLDDTQSE AARVLADNLK
LKKELQSNKE SVKSQMKQKD EDLERRLEQA EEKHLKEKKN MQEKLDALRR EKVHLEETIG
EIQVTLNKKD KEVQQLQENL DSTVTQLAAF TKSMSSLQDD RDRVIDEAKK WERKFSDAIQ
SKEEEIRLKE DNCSVLKDQL RQMSIHMEEL KINISRLEHD KQIWESKAQT EVQLQQKVCD
TLQGENKELL SQLEETRHLY HSSQNELAKL ESELKSLKDQ LTDLSNSLEK CKEQKGNLEG
IIRQQEADIQ NSKFSYEQLE TDLQASRELT SRLHEEINMK EQKIISLLSG KEEAIQVAIA
ELRQQHDKEI KELENLLSQE EEENIVLEEE NKKAVDKTNQ LMETLKTIKK ENIQQKAQLD
SFVKSMSSLQ NDRDRIVGDY QQLEERHLSI ILEKDQLIQE AAAENNKLKE EIRGLRSHMD
DLNSENAKLD AELIQYREDL NQVITIKDSQ QKQLLEVQLQ QNKELENKYA KLEEKLKESE
EANEDLRRSF NALQEEKQDL SKEIESLKVS ISQLTRQVTA LQEEGTLGLY HAQLKVKEEE
VHRLSALFSS SQKRIAELEE ELVCVQKEAA KKVGEIEDKL KKELKHLHHD AGIMRNETET
AEERVAELAR DLVEMEQKLL MVTKENKGLT AQIQSFGRSM SSLQNSRDHA NEELDELKRK
YDASLKELAQ LKEQGLLNRE RDALLSETAF SMNSTEENSL SHLEKLNQQL LSKDEQLLHL
SSQLEDSYNQ VQSFSKAMAS LQNERDHLWN ELEKFRKSEE GKQRSAAQPS TSPAEVQSLK
KAMSSLQNDR DRLLKELKNL QQQYLQINQE ITELHPLKAQ LQEYQDKTKA FQIMQEELRQ
ENLSWQHELH QLRMEKSSWE IHERRMKEQY LMAISDKDQQ LSHLQNLIRE LRSSSSQTQP
LKVQYQRQAS PETSASPDGS QNLVYETELL RTQLNDSLKE IHQKELRIQQ LNSNFSQLLE
EKNTLSIQLC DTSQSLRENQ QHYGDLLNHC AVLEKQVQEL QAGPLNIDVA PGAPQEKNGV
HRKSDPEELR EPQQSFSEAQ QQLCNTRQEV NELRKLLEEE RDQRVAAENA LSVAEEQIRR
LEHSEWDSSR TPIIGSCGTQ EQALLIDLTS NSCRRTRSGV GWKRVLRSLC HSRTRVPLLA
AIYFLMIHVL LILCFTGHL*

mutated AA sequence

MLSRLSGLAN VVLHELSGDD DTDQNMRAPL DPELHQESDM EFNNTTQEDV QERLAYAEQL
VVELKDIIRQ KDVQLQQKDE ALQEERKAAD NKIKKLKLHA KAKLTSLNKY IEEMKAQGGT
VLPTEPQSEE QLSKHDKSST EEEMEIEKIK HKLQEKEELI STLQAQLTQA QAEQPAQSST
EMEEFVMMKQ QLQEKEEFIS TLQAQLSQTQ AEQAAQQVVR EKDARFETQV RLHEDELLQL
VTQADVETEM QQKLRVLQRK LEEHEESLVG RAQVVDLLQQ ELTAAEQRNQ ILSQQLQQME
AEHNTLRNTV ETEREESKIL LEKMELEVAE RKLSFHNLQE EMHHLLEQFE QAGQAQAELE
SRYSALEQKH KAEMEEKTSH ILSLQKTGQE LQSACDALKD QNSKLLQDKN EQAVQSAQTI
QQLEDQLQQK SKEISQFLNR LPLQQHETAS QTSFPDVYNE GTQAVTEENI ASLQKRVVEL
ENEKGALLLS SIELEELKAE NEKLSSQITL LEAQNRTGEA DREVSEISIV DIANKRSSSA
EESGQDVLEN TFSQKHKELS VLLLEMKEAQ EEIAFLKLQL QGKRAEEADH EVLDQKEMKQ
MEGEGIAPIK MKVFLEDTGQ DFPLMPNEES SLPAVEKEQA STEHQSRTSE EISLNDAGVE
LKSTKQDGDK SLSAVPDIGQ CHQDELERLK SQILELELNF HKAQEIYEKN LDEKAKEISN
LNQLIEEFKK NADNNSSAFT ALSEERDQLL SQVKELSMVT ELRAQVKQLE MNLAEAERQR
RLDYESQTAH DNLLTEQIHS LSIEAKSKDV KIEVLQNELD DVQLQFSEQS TLIRSLQSQL
QNKESEVLEG AERVRHISSK VEELSQALSQ KELEITKMDQ LLLEKKRDVE TLQQTIEEKD
QQVTEISFSM TEKMVQLNEE KFSLGVEIKT LKEQLNLLSR AEEAKKEQVE EDNEVSSGLK
QNYDEMSPAG QISKEELQHE FDLLKKENEQ RKRKLQAALI NRKELLQRVS RLEEELANLK
DESKKEIPLS ETERGEVEED KENKEYSEKC VTSKCQEIEI YLKQTISEKE VELQHIRKDL
EEKLAAEEQF QALVKQMNQT LQDKTNQIDL LQAEISENQA IIQKLITSNT DASDGDSVAL
VKETVVISPP CTGSSEHWKP ELEEKILALE KEKEQLQKKL QEALTSRKAI LKKAQEKERH
LREELKQQKD DYNRLQEQFD EQSKENENIG DQLRQLQIQV RESIDGKLPS TDQQESCSST
PGLEEPLFKA TEQHHTQPVL ESNLCPDWPS HSEDASALQG GTSVAQIKAQ LKEIEAEKVE
LELKVSSTTS ELTKKSEEVF QLQEQINKQG LEIESLKTVS HEAEVHAESL QQKLESSQLQ
IAGLEHLREL QPKLDELQKL ISKKEEDVSY LSGQLSEKEA ALTKIQTEII EQEDLIKALH
TQLEMQAKEH DERIKQLQVE LCEMKQKPEE IGEESRAKQQ IQRKLQAALI SRKEALKENK
SLQEELSLAR GTIERLTKSL ADVESQVSAQ NKEKDTVLGR LALLQEERDK LITEMDRSLL
ENQSLSSSCE SLKLALEGLT EDKEKLVKEI ESLKSSKIAE STEWQEKHKE LQKEYEILLQ
SYENVSNEAE RIQHVVEAVR QEKQELYGKL RSTEANKKET EKQLQEAEQE MEEMKEKMRK
FAKSKQQKIL ELEEENDRLR AEVHPAGDTA KECMETLLSS NASMKEELER VKMEYETLSK
KFQSLMSEKD SLSEEVQDLK HQIEDNVSKQ ANLEATEKHD NQTNVTEEGT QSIPGETEEQ
DSLSMSTRPT CSESVPSAKS ANPAVSKDFS SHDEINNYLQ QIDQLKERIA GLEEEKQKNK
EFSQTLENEK NTLLSQISTK DGELKMLQEE VTKMNLLNQQ IQEELSRVTK LKETAEEEKD
DLEERLMNQL AELNGSIGNY CQDVTDAQIK NELLESEMKN LKKCVSELEE EKQQLVKEKT
KVESEIRKEY LEKIQGAQKE PGNKSHAKEL QELLKEKQQE VKQLQKDCIR YQEKISALER
TVKALEFVQT ESQKDLEITK ENLAQAVEHR KKAQAELASF KVLLDDTQSE AARVLADNLK
LKKELQSNKE SVKSQMKQKD EDLERRLEQA EEKHLKEKKN MQEKLDALRR EKVHLEETIG
EIQVTLNKKD KEVQQLQENL DSTVTQLAAF TKSMSSLQDD RDRVIDEAKK WERKFSDAIQ
SKEEEIRLKE DNCSVLKDQL RQMSIHMEEL KINISRLEHD KQIWESKAQT EVQLQQKVCD
TLQGENKELL SQLEETRHLY HSSQNELAKL ESELKSLKDQ LTDLSNSLEK CKEQKGNLEG
IIRQQEADIQ NSKFSYEQLE TDLQASRELT SRLHEEINMK EQKIISLLSG KEEAIQVAIA
ELRQQHDKEI KELENLLSQE EEENIVLEEE NKKAVDKTNQ LMETLKTIKK ENIQQKAQLD
SFVKSMSSLQ NDRDRIVGDY QQLEERHLSI ILEKDQLIQE AAAENNKLKE EIRGLRSHMD
DLNSENAKLD AELIQYREDL NQVITIKDSQ QKQLLEVQLQ QNKELENKYA KLEEKLKESE
EANEDLRRSF NALQEEKQDL SKEIESLKVS ISQLTRQVTA LQEEGTLGLY HAQLKVKEEE
VHRLSALFSS SQKRIAELEE ELVCVQKEAA KKVGEIEDKL KKELKHLHHD AGIMRNETET
AEERVAELAR DLVEMEQKLL MVTKENKGLT AQIQSFGRSM SSLQNSRDHA NEELDELKRK
YDASLKELAQ LKEQGLLNRE RDALLSETAF SMNSTEENSL SHLEKLNQQL LSKDEQLLHL
SSQLEDSYNQ VQSFSKAMAS LQNERDHLWN ELEKFRKSEE GKQRSAAQPS TSPAEVQSLK
KAMSSLQNDR DRLLKELKNL QQQYLQINQE ITELHPLKAQ LQEYQDKTKA FQIMQEELRQ
ENLSWQHELH QLRMEKSSWE IHERRMKEQY LMAISDKDQQ LSHLQNLIRE LRSSSSQTQP
LKVQYQRQAS PETSASPDGS QNLVYETELL RTQLNDSLKE IHQKELRIQQ LNSNFSQLLE
EKNTLSIQLC DTSQSLRENQ QHYGDLLNHC AVLEKQVQEL QAGPLNIDVA PGAPQEKNGV
HRKSDPEELR EPQQSFSEAQ QQLCNTRQEV NELRKLLEEE RDQRVAAENA LSVAEEQIRR
LEHSEWDSSR TPIIGSCGTQ EQALLIDLTS NSCRRTRSGV GWKRVLRSLC HSRTRVPLLA
AIYFLMIHVL LILCFTGHL*

speed

0.95 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: 0.999999999999634 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:121414061C>TN/A show variant in all transcripts IGV

HGNC symbol

GOLGB1

Ensembl transcript ID

ENST00000393667

Genbank transcript ID

NM_001256486

UniProt peptide

Q14789

alteration type

single base exchange

alteration region

CDS

DNA changes

c.5309G>A
cDNA.5420G>A
g.54542G>A

AA changes

G1770D Score: 94 explain score(s)

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

1770

frameshift

known variant

Reference ID: rs1127412

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	3853	21342	25195

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.892	0
	-1.63	0
(flanking)	0.093	0.045

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	54540	wt: 0.7118 / mu: 0.7512 (marginal change - not scored)	wt: ATAGAAGGTAATGTA mu: ATAGAAGATAATGTA	AGAA\|ggta

distance from splice site

1474

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1770

mutated

not conserved

1770

Ptroglodytes

all identical

ENSPTRG00000015280

1765

Mmulatta

not conserved

ENSMMUG00000013546

1731

Fcatus

no alignment

ENSFCAG00000015525

n/a

Mmusculus

not conserved

ENSMUSG00000034243

1753

Ggallus

not conserved

ENSGALG00000009783

1302

IAQLLPET

GLT

EAETARLRRE

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000061951

2130

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000033340

1687

protein features

start (aa)	end (aa)	feature	details
1	3235	TOPO_DOM	Cytoplasmic (Potential).	lost
1301	1779	COILED	Potential.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

9810 / 9810

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

3270 / 3270

position of stopcodon in wt / mu cDNA

9921 / 9921

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

112 / 112

chromosome

strand

-1

last intron/exon boundary

9787

theoretical NMD boundary in CDS

9625

length of CDS

9810

coding sequence (CDS) position

5309

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

5420

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

54542

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

121414061

original gDNA sequence snippet

TTTAAAGCATCAGATAGAAGGTAATGTATCTAAACAAGCTA

altered gDNA sequence snippet

TTTAAAGCATCAGATAGAAGATAATGTATCTAAACAAGCTA

original cDNA sequence snippet

TTTAAAGCATCAGATAGAAGGTAATGTATCTAAACAAGCTA

altered cDNA sequence snippet

TTTAAAGCATCAGATAGAAGATAATGTATCTAAACAAGCTA

wildtype AA sequence

MLSRLSGLAN VVLHELSGDD DTDQNMRAPL DPELHQESDM EFNNTTQEDV QERLAYAEQL
VVELKDIIRQ KDVQLQQKDE ALQEERKAAD NKIKKLKLHA KAKLTSLNKY IEEMKAQGGT
VLPTEPQSEE QLSKHDKSST EEEMEIEKIK HKLQEKEELI STLQAQLTQA QAEQPAQSST
EMEEFVMMKQ QLQEKEEFIS TLQAQLSQTQ AEQAAQLSSM QQVVREKDAR FETQVRLHED
ELLQLVTQAD VETEMQQKLR VLQRKLEEHE ESLVGRAQVV DLLQQELTAA EQRNQILSQQ
LQQMEAEHNT LRNTVETERE ESKILLEKME LEVAERKLSF HNLQEEMHHL LEQFEQAGQA
QAELESRYSA LEQKHKAEME EKTSHILSLQ KTGQELQSAC DALKDQNSKL LQDKNEQAVQ
SAQTIQQLED QLQQKSKEIS QFLNRLPLQQ HETASQTSFP DVYNEGTQAV TEENIASLQK
RVVELENEKG ALLLSSIELE ELKAENEKLS SQITLLEAQN RTGEADREVS EISIVDIANK
RSSSAEESGQ DVLENTFSQK HKELSVLLLE MKEAQEEIAF LKLQLQGKRA EEADHEVLDQ
KEMKQMEGEG IAPIKMKVFL EDTGQDFPLM PNEESSLPAV EKEQASTEHQ SRTSEEISLN
DAGVELKSTK QDGDKSLSAV PDIGQCHQDE LERLKSQILE LELNFHKAQE IYEKNLDEKA
KEISNLNQLI EEFKKNADNN SSAFTALSEE RDQLLSQVKE LSMVTELRAQ VKQLEMNLAE
AERQRRLDYE SQTAHDNLLT EQIHSLSIEA KSKDVKIEVL QNELDDVQLQ FSEQSTLIRS
LQSQLQNKES EVLEGAERVR HISSKVEELS QALSQKELEI TKMDQLLLEK KRDVETLQQT
IEEKDQQVTE ISFSMTEKMV QLNEEKFSLG VEIKTLKEQL NLLSRAEEAK KEQVEEDNEV
SSGLKQNYDE MSPAGQISKE ELQHEFDLLK KENEQRKRKL QAALINRKEL LQRVSRLEEE
LANLKDESKK EIPLSETERG EVEEDKENKE YSEKCVTSKC QEIEIYLKQT ISEKEVELQH
IRKDLEEKLA AEEQFQALVK QMNQTLQDKT NQIDLLQAEI SENQAIIQKL ITSNTDASDG
DSVALVKETV VISPPCTGSS EHWKPELEEK ILALEKEKEQ LQKKLQEALT SRKAILKKAQ
EKERHLREEL KQQKDDYNRL QEQFDEQSKE NENIGDQLRQ LQIQVRESID GKLPSTDQQE
SCSSTPGLEE PLFKATEQHH TQPVLESNLC PDWPSHSEDA SALQGGTSVA QIKAQLKEIE
AEKVELELKV SSTTSELTKK SEEVFQLQEQ INKQGLEIES LKTVSHEAEV HAESLQQKLE
SSQLQIAGLE HLRELQPKLD ELQKLISKKE EDVSYLSGQL SEKEAALTKI QTEIIEQEDL
IKALHTQLEM QAKEHDERIK QLQVELCEMK QKPEEIGEES RAKQQIQRKL QAALISRKEA
LKENKSLQEE LSLARGTIER LTKSLADVES QVSAQNKEKD TVLGRLALLQ EERDKLITEM
DRSLLENQSL SSSCESLKLA LEGLTEDKEK LVKEIESLKS SKIAESTEWQ EKHKELQKEY
EILLQSYENV SNEAERIQHV VEAVRQEKQE LYGKLRSTEA NKKETEKQLQ EAEQEMEEMK
EKMRKFAKSK QQKILELEEE NDRLRAEVHP AGDTAKECME TLLSSNASMK EELERVKMEY
ETLSKKFQSL MSEKDSLSEE VQDLKHQIEG NVSKQANLEA TEKHDNQTNV TEEGTQSIPG
ETEEQDSLSM STRPTCSESV PSAKSANPAV SKDFSSHDEI NNYLQQIDQL KERIAGLEEE
KQKNKEFSQT LENEKNTLLS QISTKDGELK MLQEEVTKMN LLNQQIQEEL SRVTKLKETA
EEEKDDLEER LMNQLAELNG SIGNYCQDVT DAQIKNELLE SEMKNLKKCV SELEEEKQQL
VKEKTKVESE IRKEYLEKIQ GAQKEPGNKS HAKELQELLK EKQQEVKQLQ KDCIRYQEKI
SALERTVKAL EFVQTESQKD LEITKENLAQ AVEHRKKAQA ELASFKVLLD DTQSEAARVL
ADNLKLKKEL QSNKESVKSQ MKQKDEDLER RLEQAEEKHL KEKKNMQEKL DALRREKVHL
EETIGEIQVT LNKKDKEVQQ LQENLDSTVT QLAAFTKSMS SLQDDRDRVI DEAKKWERKF
SDAIQSKEEE IRLKEDNCSV LKDQLRQMSI HMEELKINIS RLEHDKQIWE SKAQTEVQLQ
QKVCDTLQGE NKELLSQLEE TRHLYHSSQN ELAKLESELK SLKDQLTDLS NSLEKCKEQK
GNLEGIIRQQ EADIQNSKFS YEQLETDLQA SRELTSRLHE EINMKEQKII SLLSGKEEAI
QVAIAELRQQ HDKEIKELEN LLSQEEEENI VLEEENKKAV DKTNQLMETL KTIKKENIQQ
KAQLDSFVKS MSSLQNDRDR IVGDYQQLEE RHLSIILEKD QLIQEAAAEN NKLKEEIRGL
RSHMDDLNSE NAKLDAELIQ YREDLNQVIT IKDSQQKQLL EVQLQQNKEL ENKYAKLEEK
LKESEEANED LRRSFNALQE EKQDLSKEIE SLKVSISQLT RQVTALQEEG TLGLYHAQLK
VKEEEVHRLS ALFSSSQKRI AELEEELVCV QKEAAKKVGE IEDKLKKELK HLHHDAGIMR
NETETAEERV AELARDLVEM EQKLLMVTKE NKGLTAQIQS FGRSMSSLQN SRDHANEELD
ELKRKYDASL KELAQLKEQG LLNRERDALL SETAFSMNST EENSLSHLEK LNQQLLSKDE
QLLHLSSQLE DSYNQVQSFS KAMASLQNER DHLWNELEKF RKSEEGKQRS AAQPSTSPAE
VQSLKKAMSS LQNDRDRLLK ELKNLQQQYL QINQEITELH PLKAQLQEYQ DKTKAFQIMQ
EELRQENLSW QHELHQLRME KSSWEIHERR MKEQYLMAIS DKDQQLSHLQ NLIRELRSSS
SQTQPLKVQY QRQASPETSA SPDGSQNLVY ETELLRTQLN DSLKEIHQKE LRIQQLNSNF
SQLLEEKNTL SIQLCDTSQS LRENQQHYGD LLNHCAVLEK QVQELQAVSK EKGPLNIDVA
PGAPQEKNGV HRKSDPEELR EPQQSFSEAQ QQLCNTRQEV NELRKLLEEE RDQRVAAENA
LSVAEEQIRR LEHSEWDSSR TPIIGSCGTQ EQALLIDLTS NSCRRTRSGV GWKRVLRSLC
HSRTRVPLLA AIYFLMIHVL LILCFTGHL*

mutated AA sequence

MLSRLSGLAN VVLHELSGDD DTDQNMRAPL DPELHQESDM EFNNTTQEDV QERLAYAEQL
VVELKDIIRQ KDVQLQQKDE ALQEERKAAD NKIKKLKLHA KAKLTSLNKY IEEMKAQGGT
VLPTEPQSEE QLSKHDKSST EEEMEIEKIK HKLQEKEELI STLQAQLTQA QAEQPAQSST
EMEEFVMMKQ QLQEKEEFIS TLQAQLSQTQ AEQAAQLSSM QQVVREKDAR FETQVRLHED
ELLQLVTQAD VETEMQQKLR VLQRKLEEHE ESLVGRAQVV DLLQQELTAA EQRNQILSQQ
LQQMEAEHNT LRNTVETERE ESKILLEKME LEVAERKLSF HNLQEEMHHL LEQFEQAGQA
QAELESRYSA LEQKHKAEME EKTSHILSLQ KTGQELQSAC DALKDQNSKL LQDKNEQAVQ
SAQTIQQLED QLQQKSKEIS QFLNRLPLQQ HETASQTSFP DVYNEGTQAV TEENIASLQK
RVVELENEKG ALLLSSIELE ELKAENEKLS SQITLLEAQN RTGEADREVS EISIVDIANK
RSSSAEESGQ DVLENTFSQK HKELSVLLLE MKEAQEEIAF LKLQLQGKRA EEADHEVLDQ
KEMKQMEGEG IAPIKMKVFL EDTGQDFPLM PNEESSLPAV EKEQASTEHQ SRTSEEISLN
DAGVELKSTK QDGDKSLSAV PDIGQCHQDE LERLKSQILE LELNFHKAQE IYEKNLDEKA
KEISNLNQLI EEFKKNADNN SSAFTALSEE RDQLLSQVKE LSMVTELRAQ VKQLEMNLAE
AERQRRLDYE SQTAHDNLLT EQIHSLSIEA KSKDVKIEVL QNELDDVQLQ FSEQSTLIRS
LQSQLQNKES EVLEGAERVR HISSKVEELS QALSQKELEI TKMDQLLLEK KRDVETLQQT
IEEKDQQVTE ISFSMTEKMV QLNEEKFSLG VEIKTLKEQL NLLSRAEEAK KEQVEEDNEV
SSGLKQNYDE MSPAGQISKE ELQHEFDLLK KENEQRKRKL QAALINRKEL LQRVSRLEEE
LANLKDESKK EIPLSETERG EVEEDKENKE YSEKCVTSKC QEIEIYLKQT ISEKEVELQH
IRKDLEEKLA AEEQFQALVK QMNQTLQDKT NQIDLLQAEI SENQAIIQKL ITSNTDASDG
DSVALVKETV VISPPCTGSS EHWKPELEEK ILALEKEKEQ LQKKLQEALT SRKAILKKAQ
EKERHLREEL KQQKDDYNRL QEQFDEQSKE NENIGDQLRQ LQIQVRESID GKLPSTDQQE
SCSSTPGLEE PLFKATEQHH TQPVLESNLC PDWPSHSEDA SALQGGTSVA QIKAQLKEIE
AEKVELELKV SSTTSELTKK SEEVFQLQEQ INKQGLEIES LKTVSHEAEV HAESLQQKLE
SSQLQIAGLE HLRELQPKLD ELQKLISKKE EDVSYLSGQL SEKEAALTKI QTEIIEQEDL
IKALHTQLEM QAKEHDERIK QLQVELCEMK QKPEEIGEES RAKQQIQRKL QAALISRKEA
LKENKSLQEE LSLARGTIER LTKSLADVES QVSAQNKEKD TVLGRLALLQ EERDKLITEM
DRSLLENQSL SSSCESLKLA LEGLTEDKEK LVKEIESLKS SKIAESTEWQ EKHKELQKEY
EILLQSYENV SNEAERIQHV VEAVRQEKQE LYGKLRSTEA NKKETEKQLQ EAEQEMEEMK
EKMRKFAKSK QQKILELEEE NDRLRAEVHP AGDTAKECME TLLSSNASMK EELERVKMEY
ETLSKKFQSL MSEKDSLSEE VQDLKHQIED NVSKQANLEA TEKHDNQTNV TEEGTQSIPG
ETEEQDSLSM STRPTCSESV PSAKSANPAV SKDFSSHDEI NNYLQQIDQL KERIAGLEEE
KQKNKEFSQT LENEKNTLLS QISTKDGELK MLQEEVTKMN LLNQQIQEEL SRVTKLKETA
EEEKDDLEER LMNQLAELNG SIGNYCQDVT DAQIKNELLE SEMKNLKKCV SELEEEKQQL
VKEKTKVESE IRKEYLEKIQ GAQKEPGNKS HAKELQELLK EKQQEVKQLQ KDCIRYQEKI
SALERTVKAL EFVQTESQKD LEITKENLAQ AVEHRKKAQA ELASFKVLLD DTQSEAARVL
ADNLKLKKEL QSNKESVKSQ MKQKDEDLER RLEQAEEKHL KEKKNMQEKL DALRREKVHL
EETIGEIQVT LNKKDKEVQQ LQENLDSTVT QLAAFTKSMS SLQDDRDRVI DEAKKWERKF
SDAIQSKEEE IRLKEDNCSV LKDQLRQMSI HMEELKINIS RLEHDKQIWE SKAQTEVQLQ
QKVCDTLQGE NKELLSQLEE TRHLYHSSQN ELAKLESELK SLKDQLTDLS NSLEKCKEQK
GNLEGIIRQQ EADIQNSKFS YEQLETDLQA SRELTSRLHE EINMKEQKII SLLSGKEEAI
QVAIAELRQQ HDKEIKELEN LLSQEEEENI VLEEENKKAV DKTNQLMETL KTIKKENIQQ
KAQLDSFVKS MSSLQNDRDR IVGDYQQLEE RHLSIILEKD QLIQEAAAEN NKLKEEIRGL
RSHMDDLNSE NAKLDAELIQ YREDLNQVIT IKDSQQKQLL EVQLQQNKEL ENKYAKLEEK
LKESEEANED LRRSFNALQE EKQDLSKEIE SLKVSISQLT RQVTALQEEG TLGLYHAQLK
VKEEEVHRLS ALFSSSQKRI AELEEELVCV QKEAAKKVGE IEDKLKKELK HLHHDAGIMR
NETETAEERV AELARDLVEM EQKLLMVTKE NKGLTAQIQS FGRSMSSLQN SRDHANEELD
ELKRKYDASL KELAQLKEQG LLNRERDALL SETAFSMNST EENSLSHLEK LNQQLLSKDE
QLLHLSSQLE DSYNQVQSFS KAMASLQNER DHLWNELEKF RKSEEGKQRS AAQPSTSPAE
VQSLKKAMSS LQNDRDRLLK ELKNLQQQYL QINQEITELH PLKAQLQEYQ DKTKAFQIMQ
EELRQENLSW QHELHQLRME KSSWEIHERR MKEQYLMAIS DKDQQLSHLQ NLIRELRSSS
SQTQPLKVQY QRQASPETSA SPDGSQNLVY ETELLRTQLN DSLKEIHQKE LRIQQLNSNF
SQLLEEKNTL SIQLCDTSQS LRENQQHYGD LLNHCAVLEK QVQELQAVSK EKGPLNIDVA
PGAPQEKNGV HRKSDPEELR EPQQSFSEAQ QQLCNTRQEV NELRKLLEEE RDQRVAAENA
LSVAEEQIRR LEHSEWDSSR TPIIGSCGTQ EQALLIDLTS NSCRRTRSGV GWKRVLRSLC
HSRTRVPLLA AIYFLMIHVL LILCFTGHL*

speed

0.63 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems