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: ENST00000294383
Querying Taster for transcript #2: ENST00000407756
MT speed 0 s - this script 3.403241 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
USP24	polymorphism_automatic	0.305188576932895	simple_aae				V2308A	single base exchange	rs487230		show file
USP24	polymorphism_automatic	0.305188576932896	simple_aae				V2468A	single base exchange	rs487230		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.694811423067105 (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)

chr1:55541174A>GN/A show variant in all transcripts IGV

HGNC symbol

USP24

Ensembl transcript ID

ENST00000407756

Genbank transcript ID

N/A

UniProt peptide

Q9UPU5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.6923T>C
cDNA.6923T>C
g.139866T>C

AA changes

V2308A Score: 64 explain score(s)

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

2308

frameshift

known variant

Reference ID: rs487230

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1372	723	2095
ExAC	30608	-28449	2159

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.81	0.847
	1.754	0.988
(flanking)	1.64	0.997

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	139868	wt: 0.9380 / mu: 0.9652 (marginal change - not scored)	wt: AAGTAGAGCGAGTCA mu: AAGCAGAGCGAGTCA	GTAG\|agcg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

2308

mutated

not conserved

2308

Ptroglodytes

all identical

ENSPTRG00000000784

2369

Mmulatta

all identical

ENSMMUG00000005740

1721

Fcatus

all identical

ENSFCAG00000008817

2299

Mmusculus

all identical

ENSMUSG00000028514

2466

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000016307

1709

Drerio

not conserved

ENSDARG00000059925

2437

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000029949

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

7383 / 7383

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

2461 / 2461

position of stopcodon in wt / mu cDNA

7383 / 7383

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

1 / 1

chromosome

strand

-1

last intron/exon boundary

7321

theoretical NMD boundary in CDS

7270

length of CDS

7383

coding sequence (CDS) position

6923

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

6923

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

139866

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

55541174

original gDNA sequence snippet

TATTGAAGATCCTATACAAGTAGAGCGAGTCAAATTTGTGT

altered gDNA sequence snippet

TATTGAAGATCCTATACAAGCAGAGCGAGTCAAATTTGTGT

original cDNA sequence snippet

TATTGAAGATCCTATACAAGTAGAGCGAGTCAAATTTGTGT

altered cDNA sequence snippet

TATTGAAGATCCTATACAAGCAGAGCGAGTCAAATTTGTGT

wildtype AA sequence

MTTLLCMGFS DPATIRKALR LAKNDINEAV ALLTNERPGL DYGGYEPMDS GGLSESDENC
RRFMDRCMPE AFKKLLTSSA VHKWGTEIHE GIYNMLMLLI ELVAERIKQD PIPTGLLGVL
TMAFNPDNEY HFKNRMKVSQ RNWAEVFGEG NMFAVSPVST FQKEPHGWVV DLVNKFGELG
GFAAIQAKLH SEDIELGAVS ALIQPLGVCA EYLNSSVVQP MLDPVILTTI QDVRSVEEKD
LKDKRLVSIP ELLSAVKLLC MRFQPDLVTI VDDLRLDILL RMLKSPHFSA KMNSLKEVTK
LIEDSTLSKS VKNAIDTDRL LDWLVENSVL SIALEGNIDQ AQYCDRIKGI IELLGSKLSL
DELTKIWKIQ SGQSSTVIEN IHTIIAAAAV KFNSDQLNHL FVLIQKVLDV LWELAHLPTL
PSSLIQQALE EHLTILSDAY AVKEAIKRSY IIKCIEDIKR SSQLNNPQFV WVVPALRQLH
EITRSFIKQT YQKQDKSIIQ DLKKNFEIVK LVTGSLIACH RLAAAVAGPG GLSGSTLVDG
RYTYREYLEA HLKFLAFFLQ EATLYLGWNR AKEIWECLVT GQDVCELDRE MCFEWFTKGQ
HDLESDVQQQ LFKEKILKLE SYEITMNGFN LFKTFFENVN LCDHRLKRQG AQLYVEKLEL
IGMDFIWKIA MESPDEEIAN EAIQLIINYS YINLNPRLKK DSVSLHKKFI ADCYTRLEAA
SSALGGPTLT HAVTRATKML TATAMPTVAT SVQSPYRSTK LVIIERLLLL AERYVITIED
FYSVPRTILP HGASFHGHLL TLNVTYESTK DTFTVEAHSN ETIGSVRWKI AKQLCSPVDN
IQIFTNDSLL TVNKDQKLLH QLGFSDEQIL TVKTSGSGTP SGSSADSSTS SSSSSSGVFS
SSYAMEQEKS LPGVVMALVC NVFDMLYQLA NLEEPRITLR VRKLLLLIPT DPAIQEALDQ
LDSLGRKKTL LSESSSQSSK SPSLSSKQQH QPSASSILES LFRSFAPGMS TFRVLYNLEV
LSSKLMPTAD DDMARSCAKS FCENFLKAGG LSLVVNVMQR DSIPSEVDYE TRQGVYSICL
QLARFLLVGQ TMPTLLDEDL TKDGIEALSS RPFRNVSRQT SRQMSLCGTP EKSSYRQLSV
SDRSSIRVEE IIPAARVAIQ TMEVSDFTST VACFMRLSWA AAAGRLDLVG SSQPIKESNS
LCPAGIRNRL SSSGSNCSSG SEGEPVALHA GICVRQQSVS TKDSLIAGEA LSLLVTCLQL
RSQQLASFYN LPCVADFIID ILLGSPSAEI RRVACDQLYT LSQTDTSAHP DVQKPNQFLL
GVILTAQLPL WSPTSIMRGV NQRLLSQCME YFDLRCQLLD DLTTSEMEQL RISPATMLED
EITWLDNFEP NRTAECETSE ADNILLAGHL RLIKTLLSLC GAEKEMLGSS LIKPLLDDFL
FRASRIILNS HSPAGSAAIS QQDFHPKCST ANSRLAAYEV LVMLADSSPS NLQIIIKELL
SMHHQPDPAL TKEFDYLPPV DSRSSSGFVG LRNGGATCYM NAVFQQLYMQ PGLPESLLSV
DDDTDNPDDS VFYQVQSLFG HLMESKLQYY VPENFWKIFK MWNKELYVRE QQDAYEFFTS
LIDQMDEYLK KMGRDQIFKN TFQGIYSDQK ICKDCPHRYE REEAFMALNL GVTSCQSLEI
SLDQFVRGEV LEGSNAYYCE KCKEKRITVK RTCIKSLPSV LVIHLMRFGF DWESGRSIKY
DEQIRFPWML NMEPYTVSGM ARQDSSSEVG ENGRSVDQGG GGSPRKKVAL TENYELVGVI
VHSGQAHAGH YYSFIKDRRG CGKGKWYKFN DTVIEEFDLN DETLEYECFG GEYRPKVYDQ
TNPYTDVRRR YWNAYMLFYQ RVSDQNSPVL PKKSRVSVVR QEAEDLSLSA PSSPEISPQS
SPRPHRPNND RLSILTKLVK KGEKKGLFVE KMPARIYQMV RDENLKFMKN RDVYSSDYFS
FVLSLASLNA TKLKHPYYPC MAKVSLQLAI QFLFQTYLRT KKKLRVDTEE WIATIEALLS
KSFDACQWLV EYFISSEGRE LIKIFLLECN VREVRVAVAT ILEKTLDSAL FYQDKLKSLH
QLLEVLLALL DKDVPENCKN CAQYFFLFNT FVQKQGIRAG DLLLRHSALR HMISFLLGAS
RQNNQIRRWS SAQAREFGNL HNTVALLVLH SDVSSQRNVA PGIFKQRPPI SIAPSSPLLP
LHEEVEALLF MSEGKPYLLE VMFALRELTG SLLALIEMVV YCCFCNEHFS FTMLHFIKNQ
LETAPPHELK NTFQLLHEIL VIEDPIQVER VKFVFETENG LLALMHHSNH VDSSRCYQCV
KFLVTLAQKC PAAKEYFKEN SHHWSWAVQW LQKKMSEHYW TPQSNVSNET STGKTFQRTI
SAQDTLAYAT ALLNEKEQSG SSNGSESSPA NENGDRHLQQ GSESPMMIGE LRSDLDDVDP
*

mutated AA sequence

MTTLLCMGFS DPATIRKALR LAKNDINEAV ALLTNERPGL DYGGYEPMDS GGLSESDENC
RRFMDRCMPE AFKKLLTSSA VHKWGTEIHE GIYNMLMLLI ELVAERIKQD PIPTGLLGVL
TMAFNPDNEY HFKNRMKVSQ RNWAEVFGEG NMFAVSPVST FQKEPHGWVV DLVNKFGELG
GFAAIQAKLH SEDIELGAVS ALIQPLGVCA EYLNSSVVQP MLDPVILTTI QDVRSVEEKD
LKDKRLVSIP ELLSAVKLLC MRFQPDLVTI VDDLRLDILL RMLKSPHFSA KMNSLKEVTK
LIEDSTLSKS VKNAIDTDRL LDWLVENSVL SIALEGNIDQ AQYCDRIKGI IELLGSKLSL
DELTKIWKIQ SGQSSTVIEN IHTIIAAAAV KFNSDQLNHL FVLIQKVLDV LWELAHLPTL
PSSLIQQALE EHLTILSDAY AVKEAIKRSY IIKCIEDIKR SSQLNNPQFV WVVPALRQLH
EITRSFIKQT YQKQDKSIIQ DLKKNFEIVK LVTGSLIACH RLAAAVAGPG GLSGSTLVDG
RYTYREYLEA HLKFLAFFLQ EATLYLGWNR AKEIWECLVT GQDVCELDRE MCFEWFTKGQ
HDLESDVQQQ LFKEKILKLE SYEITMNGFN LFKTFFENVN LCDHRLKRQG AQLYVEKLEL
IGMDFIWKIA MESPDEEIAN EAIQLIINYS YINLNPRLKK DSVSLHKKFI ADCYTRLEAA
SSALGGPTLT HAVTRATKML TATAMPTVAT SVQSPYRSTK LVIIERLLLL AERYVITIED
FYSVPRTILP HGASFHGHLL TLNVTYESTK DTFTVEAHSN ETIGSVRWKI AKQLCSPVDN
IQIFTNDSLL TVNKDQKLLH QLGFSDEQIL TVKTSGSGTP SGSSADSSTS SSSSSSGVFS
SSYAMEQEKS LPGVVMALVC NVFDMLYQLA NLEEPRITLR VRKLLLLIPT DPAIQEALDQ
LDSLGRKKTL LSESSSQSSK SPSLSSKQQH QPSASSILES LFRSFAPGMS TFRVLYNLEV
LSSKLMPTAD DDMARSCAKS FCENFLKAGG LSLVVNVMQR DSIPSEVDYE TRQGVYSICL
QLARFLLVGQ TMPTLLDEDL TKDGIEALSS RPFRNVSRQT SRQMSLCGTP EKSSYRQLSV
SDRSSIRVEE IIPAARVAIQ TMEVSDFTST VACFMRLSWA AAAGRLDLVG SSQPIKESNS
LCPAGIRNRL SSSGSNCSSG SEGEPVALHA GICVRQQSVS TKDSLIAGEA LSLLVTCLQL
RSQQLASFYN LPCVADFIID ILLGSPSAEI RRVACDQLYT LSQTDTSAHP DVQKPNQFLL
GVILTAQLPL WSPTSIMRGV NQRLLSQCME YFDLRCQLLD DLTTSEMEQL RISPATMLED
EITWLDNFEP NRTAECETSE ADNILLAGHL RLIKTLLSLC GAEKEMLGSS LIKPLLDDFL
FRASRIILNS HSPAGSAAIS QQDFHPKCST ANSRLAAYEV LVMLADSSPS NLQIIIKELL
SMHHQPDPAL TKEFDYLPPV DSRSSSGFVG LRNGGATCYM NAVFQQLYMQ PGLPESLLSV
DDDTDNPDDS VFYQVQSLFG HLMESKLQYY VPENFWKIFK MWNKELYVRE QQDAYEFFTS
LIDQMDEYLK KMGRDQIFKN TFQGIYSDQK ICKDCPHRYE REEAFMALNL GVTSCQSLEI
SLDQFVRGEV LEGSNAYYCE KCKEKRITVK RTCIKSLPSV LVIHLMRFGF DWESGRSIKY
DEQIRFPWML NMEPYTVSGM ARQDSSSEVG ENGRSVDQGG GGSPRKKVAL TENYELVGVI
VHSGQAHAGH YYSFIKDRRG CGKGKWYKFN DTVIEEFDLN DETLEYECFG GEYRPKVYDQ
TNPYTDVRRR YWNAYMLFYQ RVSDQNSPVL PKKSRVSVVR QEAEDLSLSA PSSPEISPQS
SPRPHRPNND RLSILTKLVK KGEKKGLFVE KMPARIYQMV RDENLKFMKN RDVYSSDYFS
FVLSLASLNA TKLKHPYYPC MAKVSLQLAI QFLFQTYLRT KKKLRVDTEE WIATIEALLS
KSFDACQWLV EYFISSEGRE LIKIFLLECN VREVRVAVAT ILEKTLDSAL FYQDKLKSLH
QLLEVLLALL DKDVPENCKN CAQYFFLFNT FVQKQGIRAG DLLLRHSALR HMISFLLGAS
RQNNQIRRWS SAQAREFGNL HNTVALLVLH SDVSSQRNVA PGIFKQRPPI SIAPSSPLLP
LHEEVEALLF MSEGKPYLLE VMFALRELTG SLLALIEMVV YCCFCNEHFS FTMLHFIKNQ
LETAPPHELK NTFQLLHEIL VIEDPIQAER VKFVFETENG LLALMHHSNH VDSSRCYQCV
KFLVTLAQKC PAAKEYFKEN SHHWSWAVQW LQKKMSEHYW TPQSNVSNET STGKTFQRTI
SAQDTLAYAT ALLNEKEQSG SSNGSESSPA NENGDRHLQQ GSESPMMIGE LRSDLDDVDP
*

speed

0.74 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: 0.694811423067104 (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)

chr1:55541174A>GN/A show variant in all transcripts IGV

HGNC symbol

USP24

Ensembl transcript ID

ENST00000294383

Genbank transcript ID

NM_015306

UniProt peptide

Q9UPU5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.7403T>C
cDNA.7656T>C
g.139866T>C

AA changes

V2468A Score: 64 explain score(s)

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

2468

frameshift

known variant

Reference ID: rs487230

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1372	723	2095
ExAC	30608	-28449	2159

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.81	0.847
	1.754	0.988
(flanking)	1.64	0.997

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	139868	wt: 0.9380 / mu: 0.9652 (marginal change - not scored)	wt: AAGTAGAGCGAGTCA mu: AAGCAGAGCGAGTCA	GTAG\|agcg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

2468

mutated

not conserved

2468

Ptroglodytes

all identical

ENSPTRG00000000784

2369

Mmulatta

all identical

ENSMMUG00000005740

1721

Fcatus

all identical

ENSFCAG00000008817

2299

Mmusculus

all identical

ENSMUSG00000028514

2466

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000016307

1709

Drerio

not conserved

ENSDARG00000059925

2437

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000029949

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

7863 / 7863

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

2621 / 2621

position of stopcodon in wt / mu cDNA

8116 / 8116

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

254 / 254

chromosome

strand

-1

last intron/exon boundary

8054

theoretical NMD boundary in CDS

7750

length of CDS

7863

coding sequence (CDS) position

7403

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

7656

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

139866

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

55541174

original gDNA sequence snippet

TATTGAAGATCCTATACAAGTAGAGCGAGTCAAATTTGTGT

altered gDNA sequence snippet

TATTGAAGATCCTATACAAGCAGAGCGAGTCAAATTTGTGT

original cDNA sequence snippet

TATTGAAGATCCTATACAAGTAGAGCGAGTCAAATTTGTGT

altered cDNA sequence snippet

TATTGAAGATCCTATACAAGCAGAGCGAGTCAAATTTGTGT

wildtype AA sequence

MESEEEQHMT TLLCMGFSDP ATIRKALRLA KNDINEAVAL LTNERPGLDY GGYEPMDSGG
GPSPGPGGGP RGDGGGDGGG GGPSRGGSTG GGGGFDPPPA YHEVVDAEKN DENGNCSGEG
IEFPTTNLYE LESRVLTDHW SIPYKREESL GKCLLASTYL ARLGLSESDE NCRRFMDRCM
PEAFKKLLTS SAVHKWGTEI HEGIYNMLML LIELVAERIK QDPIPTGLLG VLTMAFNPDN
EYHFKNRMKV SQRNWAEVFG EGNMFAVSPV STFQKEPHGW VVDLVNKFGE LGGFAAIQAK
LHSEDIELGA VSALIQPLGV CAEYLNSSVV QPMLDPVILT TIQDVRSVEE KDLKDKRLVS
IPELLSAVKL LCMRFQPDLV TIVDDLRLDI LLRMLKSPHF SAKMNSLKEV TKLIEDSTLS
KSVKNAIDTD RLLDWLVENS VLSIALEGNI DQAQYCDRIK GIIELLGSKL SLDELTKIWK
IQSGQSSTVI ENIHTIIAAA AVKFNSDQLN HLFVLIQKSW ETESDRVRQK LLSLIGRIGR
EARFETTSGK VLDVLWELAH LPTLPSSLIQ QALEEHLTIL SDAYAVKEAI KRSYIIKCIE
DIKRPGEWSG LEKNKKDGFK SSQLNNPQFV WVVPALRQLH EITRSFIKQT YQKQDKSIIQ
DLKKNFEIVK LVTGSLIACH RLAAAVAGPG GLSGSTLVDG RYTYREYLEA HLKFLAFFLQ
EATLYLGWNR AKEIWECLVT GQDVCELDRE MCFEWFTKGQ HDLESDVQQQ LFKEKILKLE
SYEITMNGFN LFKTFFENVN LCDHRLKRQG AQLYVEKLEL IGMDFIWKIA MESPDEEIAN
EAIQLIINYS YINLNPRLKK DSVSLHKKFI ADCYTRLEAA SSALGGPTLT HAVTRATKML
TATAMPTVAT SVQSPYRSTK LVIIERLLLL AERYVITIED FYSVPRTILP HGASFHGHLL
TLNVTYESTK DTFTVEAHSN ETIGSVRWKI AKQLCSPVDN IQIFTNDSLL TVNKDQKLLH
QLGFSDEQIL TVKTSGSGTP SGSSADSSTS SSSSSSGVFS SSYAMEQEKS LPGVVMALVC
NVFDMLYQLA NLEEPRITLR VRKLLLLIPT DPAIQEALDQ LDSLGRKKTL LSESSSQSSK
SPSLSSKQQH QPSASSILES LFRSFAPGMS TFRVLYNLEV LSSKLMPTAD DDMARSCAKS
FCENFLKAGG LSLVVNVMQR DSIPSEVDYE TRQGVYSICL QLARFLLVGQ TMPTLLDEDL
TKDGIEALSS RPFRNVSRQT SRQMSLCGTP EKSSYRQLSV SDRSSIRVEE IIPAARVAIQ
TMEVSDFTST VACFMRLSWA AAAGRLDLVG SSQPIKESNS LCPAGIRNRL SSSGSNCSSG
SEGEPVALHA GICVRQQSVS TKDSLIAGEA LSLLVTCLQL RSQQLASFYN LPCVADFIID
ILLGSPSAEI RRVACDQLYT LSQTDTSAHP DVQKPNQFLL GVILTAQLPL WSPTSIMRGV
NQRLLSQCME YFDLRCQLLD DLTTSEMEQL RISPATMLED EITWLDNFEP NRTAECETSE
ADNILLAGHL RLIKTLLSLC GAEKEMLGSS LIKPLLDDFL FRASRIILNS HSPAGSAAIS
QQDFHPKCST ANSRLAAYEV LVMLADSSPS NLQIIIKELL SMHHQPDPAL TKEFDYLPPV
DSRSSSGFVG LRNGGATCYM NAVFQQLYMQ PGLPESLLSV DDDTDNPDDS VFYQVQSLFG
HLMESKLQYY VPENFWKIFK MWNKELYVRE QQDAYEFFTS LIDQMDEYLK KMGRDQIFKN
TFQGIYSDQK ICKDCPHRYE REEAFMALNL GVTSCQSLEI SLDQFVRGEV LEGSNAYYCE
KCKEKRITVK RTCIKSLPSV LVIHLMRFGF DWESGRSIKY DEQIRFPWML NMEPYTVSGM
ARQDSSSEVG ENGRSVDQGG GGSPRKKVAL TENYELVGVI VHSGQAHAGH YYSFIKDRRG
CGKGKWYKFN DTVIEEFDLN DETLEYECFG GEYRPKVYDQ TNPYTDVRRR YWNAYMLFYQ
RVSDQNSPVL PKKSRVSVVR QEAEDLSLSA PSSPEISPQS SPRPHRPNND RLSILTKLVK
KGEKKGLFVE KMPARIYQMV RDENLKFMKN RDVYSSDYFS FVLSLASLNA TKLKHPYYPC
MAKVSLQLAI QFLFQTYLRT KKKLRVDTEE WIATIEALLS KSFDACQWLV EYFISSEGRE
LIKIFLLECN VREVRVAVAT ILEKTLDSAL FYQDKLKSLH QLLEVLLALL DKDVPENCKN
CAQYFFLFNT FVQKQGIRAG DLLLRHSALR HMISFLLGAS RQNNQIRRWS SAQAREFGNL
HNTVALLVLH SDVSSQRNVA PGIFKQRPPI SIAPSSPLLP LHEEVEALLF MSEGKPYLLE
VMFALRELTG SLLALIEMVV YCCFCNEHFS FTMLHFIKNQ LETAPPHELK NTFQLLHEIL
VIEDPIQVER VKFVFETENG LLALMHHSNH VDSSRCYQCV KFLVTLAQKC PAAKEYFKEN
SHHWSWAVQW LQKKMSEHYW TPQSNVSNET STGKTFQRTI SAQDTLAYAT ALLNEKEQSG
SSNGSESSPA NENGDRHLQQ GSESPMMIGE LRSDLDDVDP *

mutated AA sequence

MESEEEQHMT TLLCMGFSDP ATIRKALRLA KNDINEAVAL LTNERPGLDY GGYEPMDSGG
GPSPGPGGGP RGDGGGDGGG GGPSRGGSTG GGGGFDPPPA YHEVVDAEKN DENGNCSGEG
IEFPTTNLYE LESRVLTDHW SIPYKREESL GKCLLASTYL ARLGLSESDE NCRRFMDRCM
PEAFKKLLTS SAVHKWGTEI HEGIYNMLML LIELVAERIK QDPIPTGLLG VLTMAFNPDN
EYHFKNRMKV SQRNWAEVFG EGNMFAVSPV STFQKEPHGW VVDLVNKFGE LGGFAAIQAK
LHSEDIELGA VSALIQPLGV CAEYLNSSVV QPMLDPVILT TIQDVRSVEE KDLKDKRLVS
IPELLSAVKL LCMRFQPDLV TIVDDLRLDI LLRMLKSPHF SAKMNSLKEV TKLIEDSTLS
KSVKNAIDTD RLLDWLVENS VLSIALEGNI DQAQYCDRIK GIIELLGSKL SLDELTKIWK
IQSGQSSTVI ENIHTIIAAA AVKFNSDQLN HLFVLIQKSW ETESDRVRQK LLSLIGRIGR
EARFETTSGK VLDVLWELAH LPTLPSSLIQ QALEEHLTIL SDAYAVKEAI KRSYIIKCIE
DIKRPGEWSG LEKNKKDGFK SSQLNNPQFV WVVPALRQLH EITRSFIKQT YQKQDKSIIQ
DLKKNFEIVK LVTGSLIACH RLAAAVAGPG GLSGSTLVDG RYTYREYLEA HLKFLAFFLQ
EATLYLGWNR AKEIWECLVT GQDVCELDRE MCFEWFTKGQ HDLESDVQQQ LFKEKILKLE
SYEITMNGFN LFKTFFENVN LCDHRLKRQG AQLYVEKLEL IGMDFIWKIA MESPDEEIAN
EAIQLIINYS YINLNPRLKK DSVSLHKKFI ADCYTRLEAA SSALGGPTLT HAVTRATKML
TATAMPTVAT SVQSPYRSTK LVIIERLLLL AERYVITIED FYSVPRTILP HGASFHGHLL
TLNVTYESTK DTFTVEAHSN ETIGSVRWKI AKQLCSPVDN IQIFTNDSLL TVNKDQKLLH
QLGFSDEQIL TVKTSGSGTP SGSSADSSTS SSSSSSGVFS SSYAMEQEKS LPGVVMALVC
NVFDMLYQLA NLEEPRITLR VRKLLLLIPT DPAIQEALDQ LDSLGRKKTL LSESSSQSSK
SPSLSSKQQH QPSASSILES LFRSFAPGMS TFRVLYNLEV LSSKLMPTAD DDMARSCAKS
FCENFLKAGG LSLVVNVMQR DSIPSEVDYE TRQGVYSICL QLARFLLVGQ TMPTLLDEDL
TKDGIEALSS RPFRNVSRQT SRQMSLCGTP EKSSYRQLSV SDRSSIRVEE IIPAARVAIQ
TMEVSDFTST VACFMRLSWA AAAGRLDLVG SSQPIKESNS LCPAGIRNRL SSSGSNCSSG
SEGEPVALHA GICVRQQSVS TKDSLIAGEA LSLLVTCLQL RSQQLASFYN LPCVADFIID
ILLGSPSAEI RRVACDQLYT LSQTDTSAHP DVQKPNQFLL GVILTAQLPL WSPTSIMRGV
NQRLLSQCME YFDLRCQLLD DLTTSEMEQL RISPATMLED EITWLDNFEP NRTAECETSE
ADNILLAGHL RLIKTLLSLC GAEKEMLGSS LIKPLLDDFL FRASRIILNS HSPAGSAAIS
QQDFHPKCST ANSRLAAYEV LVMLADSSPS NLQIIIKELL SMHHQPDPAL TKEFDYLPPV
DSRSSSGFVG LRNGGATCYM NAVFQQLYMQ PGLPESLLSV DDDTDNPDDS VFYQVQSLFG
HLMESKLQYY VPENFWKIFK MWNKELYVRE QQDAYEFFTS LIDQMDEYLK KMGRDQIFKN
TFQGIYSDQK ICKDCPHRYE REEAFMALNL GVTSCQSLEI SLDQFVRGEV LEGSNAYYCE
KCKEKRITVK RTCIKSLPSV LVIHLMRFGF DWESGRSIKY DEQIRFPWML NMEPYTVSGM
ARQDSSSEVG ENGRSVDQGG GGSPRKKVAL TENYELVGVI VHSGQAHAGH YYSFIKDRRG
CGKGKWYKFN DTVIEEFDLN DETLEYECFG GEYRPKVYDQ TNPYTDVRRR YWNAYMLFYQ
RVSDQNSPVL PKKSRVSVVR QEAEDLSLSA PSSPEISPQS SPRPHRPNND RLSILTKLVK
KGEKKGLFVE KMPARIYQMV RDENLKFMKN RDVYSSDYFS FVLSLASLNA TKLKHPYYPC
MAKVSLQLAI QFLFQTYLRT KKKLRVDTEE WIATIEALLS KSFDACQWLV EYFISSEGRE
LIKIFLLECN VREVRVAVAT ILEKTLDSAL FYQDKLKSLH QLLEVLLALL DKDVPENCKN
CAQYFFLFNT FVQKQGIRAG DLLLRHSALR HMISFLLGAS RQNNQIRRWS SAQAREFGNL
HNTVALLVLH SDVSSQRNVA PGIFKQRPPI SIAPSSPLLP LHEEVEALLF MSEGKPYLLE
VMFALRELTG SLLALIEMVV YCCFCNEHFS FTMLHFIKNQ LETAPPHELK NTFQLLHEIL
VIEDPIQAER VKFVFETENG LLALMHHSNH VDSSRCYQCV KFLVTLAQKC PAAKEYFKEN
SHHWSWAVQW LQKKMSEHYW TPQSNVSNET STGKTFQRTI SAQDTLAYAT ALLNEKEQSG
SSNGSESSPA NENGDRHLQQ GSESPMMIGE LRSDLDDVDP *

speed

0.72 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems