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: ENST00000427522
Querying Taster for transcript #2: ENST00000467148
MT speed 0 s - this script 3.473319 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
HELZ2	polymorphism_automatic	3.99680288865056e-15	simple_aae		affected		Q1480E	single base exchange	rs3810483		show file
HELZ2	polymorphism_automatic	3.99680288865056e-15	simple_aae		affected		Q2049E	single base exchange	rs3810483		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999996 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr20:62194030G>CN/A show variant in all transcripts IGV

HGNC symbol

HELZ2

Ensembl transcript ID

ENST00000427522

Genbank transcript ID

NM_033405

UniProt peptide

Q9BYK8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.4438C>G
cDNA.4862C>G
g.11563C>G

AA changes

Q1480E Score: 29 explain score(s)

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

1480

frameshift

known variant

Reference ID: rs3810483

database	homozygous (C/C)	heterozygous	allele carriers
1000G	813	1062	1875
ExAC	10064	12639	22703

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.167	0
	2.175	0.09
(flanking)	-3.577	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc marginally increased	11555	wt: 0.2645 / mu: 0.2975 (marginal change - not scored)	wt: GTATACCTGGGTGGCCCACGGGCAGACGCAGGACTGGGACC mu: GTATACCTGGGTGGCCCACGGGCAGACGGAGGACTGGGACC	acgg\|GCAG
Donor gained	11559	0.56	mu: GGGCAGACGGAGGAC	GCAG\|acgg

distance from splice site

158

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1480

mutated

all conserved

1480

Ptroglodytes

all conserved

ENSPTRG00000013743

2040

Mmulatta

all conserved

ENSMMUG00000006070

1446

Fcatus

no alignment

ENSFCAG00000008926

n/a

Mmusculus

not conserved

ENSMUSG00000027580

2277

SGDWDHELAG

Ggallus

all conserved

ENSGALG00000006138

1968

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000012600

2201

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1507	1507	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
1873	1873	CONFLICT	V -> A (in Ref. 2; BAE46995).	might get lost (downstream of altered splice site)
2012	2016	MOTIF	LXXLL motif 4.	might get lost (downstream of altered splice site)
2174	2181	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
2203	2203	CONFLICT	G -> S (in Ref. 2; BAE46995).	might get lost (downstream of altered splice site)
2229	2233	MOTIF	LXXLL motif 5.	might get lost (downstream of altered splice site)
2383	2383	CONFLICT	V -> A (in Ref. 2; BAE46995).	might get lost (downstream of altered splice site)
2626	2626	CONFLICT	F -> L (in Ref. 2; BAE46995).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

6243 / 6243

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

2081 / 2081

position of stopcodon in wt / mu cDNA

6667 / 6667

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

425 / 425

chromosome

strand

-1

last intron/exon boundary

6543

theoretical NMD boundary in CDS

6068

length of CDS

6243

coding sequence (CDS) position

4438

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

4862

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

11563

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

62194030

original gDNA sequence snippet

GGGTGGCCCACGGGCAGACGCAGGACTGGGACCAGGAGCGC

altered gDNA sequence snippet

GGGTGGCCCACGGGCAGACGGAGGACTGGGACCAGGAGCGC

original cDNA sequence snippet

GGGTGGCCCACGGGCAGACGCAGGACTGGGACCAGGAGCGC

altered cDNA sequence snippet

GGGTGGCCCACGGGCAGACGGAGGACTGGGACCAGGAGCGC

wildtype AA sequence

MSSSPSRSAA DIYIREYFHS HVSGGHPEAT PLRVMYTDRP LSQTDPVTLQ YCCLTDDRQA
FRPPTRAELA RHRVVVTTTS QARELRVPVG FFSHILIDEA AQMLECEALT PLAYASHGTR
LVLAGDHMQV TPRLFSVARA RAAEHTLLHR LFLCYQQETH EVARQSRLVF HENYRCTDAI
VSFISRHFYV AKGNPIHARG KVPPHPRHYP LMFCHVAGSP DRDMSMASWL NLAEIAQVVE
KVQEAYNTWP SCWGGREQRC ICVVSHGAQV SALRQELRRR DLGQVSVGSF EILPGRQFRV
VVLSTVHTCQ SLLSPGALAP EFFTDARVLN TVLTRAQSQL VVVGDAVALC SFGACGKLWE
SFIRECVERH SVCPEGLSME QVEQGVAQRR RWPPRGTQAG AAGNWEAAPE PVGDLAEEQA
AVVTAMVKAE PGDEALSPAS RDITATTAQT EAAAAPAGDA VKEDVVPGAC AAGAAAAAGV
ESTEAEDAEA DFWPWDGELN ADDAILRELL DESQKVMVTV GEDGLLDTVA RPESLQQARL
YENLPPAALR KLLHAEPERY RHCSFVPETF ERASAIPLDD ASSGPIQVRG RLDCGMAFAG
DEVLVQLLSG DKAPEGRLRG RVLGVLKRKR HELAFVCRMD TWDPRIMVPI NGSVTKIFVA
ELKDPSQVPI YSLRKGRLQR VGLERLTAEA RHSRLFWVQI VLWRQGFYYP LGIVREVLPE
ASTWEQGLRI LGLEYSLRVP PSDQATITKV LQKYHTELGR VAGRREDCRA FLTFTVDPQG
ACNLDDALSV RDLGPRCEVA VHITDVASFV PRDGVLDVEA RRQGAAFYAP GREPVPMLPA
SLCQDVLSLL PGRDRLAISL FLTMEKASGQ LKSLRFAPSV VQSDRQLSYE EAEEVIRQHP
GAGRELPARL DSVDACVVAA CYFSRLLRRH RLRSDCFYEQ PDEDGTLGFR AAHIMVKEYM
IQFNRLVAEF LVGSECTRTV TPLRWQPAPR SQQLKALCEK HGDRVPLSLH LGHHLHGGGG
SPPDTRLHLL ASLWKQVQFA ARTQDYEQMV DLVTTDDMHP FLAPAGRDLR KALERSAFGR
CARGHQQQGG HYSLQVDWYT WATSPIRRYL DVVLQRQILL ALGHGGSAYS ARDIDGLCQA
FSLQHALAQS YQRRARSLHL AVQLKAQPLD KLGFVVDVEA GSRCFRLLFP SNRETLPDPC
PVPYGSLQLA EHPHALAGRP GLRLLWRRRV YSAQGSSPPL PLPGTVPDPH TLAVETALWK
QLLELVELQR WPEAAALIQE KGEASQRREL VQVQRSHCGH FLEVARELGS GDTLQVQLGT
SLQHGFLVPS PQLWTVAPGF SLCLEHVERP GDCFSGRVYR APRDRYRDVD EYACVWEPFC
ALESATGAVA ENDSVTLQHL SVSWEASRTP QGQLQGAFRL EAAFLEENCA DINFSCCYLC
IRLEGLPAPT ASPRPGPSSL GPGLNVDPGT YTWVAHGQTQ DWDQERRADR QEAPRRVHLF
VHHMGMEKVP EEVLRPGTLF TVELLPKQLP DLRKEEAVRG LEEASPLVTS IALGRPVPQP
LCRVIPSRFL ERQTYNIPGG RHKLNPSQNV AVREALEKPF TVIQGPPGTG KTIVGLHIVF
WFHKSNQEQV QPGGPPRGEK RLGGPCILYC GPSNKSVDVL AGLLLRRMEL KPLRVYSEQA
EASEFPVPRV GSRKLLRKSP REGRPNQSLR SITLHHRIRQ APNPYSSEIK AFDTRLQRGE
LFSREDLVWY KKVLWEARKF ELDRHEVILC TCSCAASASL KILDVRQILV DEAGMATEPE
TLIPLVQFPQ AEKVVLLGDH KQLRPVVKNE RLQNLGLDRS LFERYHEDAH MLDTQYRMHE
GICAFPSVAF YKSKLKTWQG LRRPPSVLGH AGKESCPVIF GHVQGHERSL LVSTDEGNEN
SKANLEEVAE VVRITKQLTL GRTVEPQDIA VLTPYNAQAS EISKALRREG IAGVAVSSIT
KSQGSEWRYV LVSTVRTCAK SDLDQRPTKS WLKKFLGFVV DPNQVNVAVT RAQEGLCLIG
DHLLLRCCPL WRSLLDFCEA QQTLVPAGQV RVCRRPTMPS *

mutated AA sequence

MSSSPSRSAA DIYIREYFHS HVSGGHPEAT PLRVMYTDRP LSQTDPVTLQ YCCLTDDRQA
FRPPTRAELA RHRVVVTTTS QARELRVPVG FFSHILIDEA AQMLECEALT PLAYASHGTR
LVLAGDHMQV TPRLFSVARA RAAEHTLLHR LFLCYQQETH EVARQSRLVF HENYRCTDAI
VSFISRHFYV AKGNPIHARG KVPPHPRHYP LMFCHVAGSP DRDMSMASWL NLAEIAQVVE
KVQEAYNTWP SCWGGREQRC ICVVSHGAQV SALRQELRRR DLGQVSVGSF EILPGRQFRV
VVLSTVHTCQ SLLSPGALAP EFFTDARVLN TVLTRAQSQL VVVGDAVALC SFGACGKLWE
SFIRECVERH SVCPEGLSME QVEQGVAQRR RWPPRGTQAG AAGNWEAAPE PVGDLAEEQA
AVVTAMVKAE PGDEALSPAS RDITATTAQT EAAAAPAGDA VKEDVVPGAC AAGAAAAAGV
ESTEAEDAEA DFWPWDGELN ADDAILRELL DESQKVMVTV GEDGLLDTVA RPESLQQARL
YENLPPAALR KLLHAEPERY RHCSFVPETF ERASAIPLDD ASSGPIQVRG RLDCGMAFAG
DEVLVQLLSG DKAPEGRLRG RVLGVLKRKR HELAFVCRMD TWDPRIMVPI NGSVTKIFVA
ELKDPSQVPI YSLRKGRLQR VGLERLTAEA RHSRLFWVQI VLWRQGFYYP LGIVREVLPE
ASTWEQGLRI LGLEYSLRVP PSDQATITKV LQKYHTELGR VAGRREDCRA FLTFTVDPQG
ACNLDDALSV RDLGPRCEVA VHITDVASFV PRDGVLDVEA RRQGAAFYAP GREPVPMLPA
SLCQDVLSLL PGRDRLAISL FLTMEKASGQ LKSLRFAPSV VQSDRQLSYE EAEEVIRQHP
GAGRELPARL DSVDACVVAA CYFSRLLRRH RLRSDCFYEQ PDEDGTLGFR AAHIMVKEYM
IQFNRLVAEF LVGSECTRTV TPLRWQPAPR SQQLKALCEK HGDRVPLSLH LGHHLHGGGG
SPPDTRLHLL ASLWKQVQFA ARTQDYEQMV DLVTTDDMHP FLAPAGRDLR KALERSAFGR
CARGHQQQGG HYSLQVDWYT WATSPIRRYL DVVLQRQILL ALGHGGSAYS ARDIDGLCQA
FSLQHALAQS YQRRARSLHL AVQLKAQPLD KLGFVVDVEA GSRCFRLLFP SNRETLPDPC
PVPYGSLQLA EHPHALAGRP GLRLLWRRRV YSAQGSSPPL PLPGTVPDPH TLAVETALWK
QLLELVELQR WPEAAALIQE KGEASQRREL VQVQRSHCGH FLEVARELGS GDTLQVQLGT
SLQHGFLVPS PQLWTVAPGF SLCLEHVERP GDCFSGRVYR APRDRYRDVD EYACVWEPFC
ALESATGAVA ENDSVTLQHL SVSWEASRTP QGQLQGAFRL EAAFLEENCA DINFSCCYLC
IRLEGLPAPT ASPRPGPSSL GPGLNVDPGT YTWVAHGQTE DWDQERRADR QEAPRRVHLF
VHHMGMEKVP EEVLRPGTLF TVELLPKQLP DLRKEEAVRG LEEASPLVTS IALGRPVPQP
LCRVIPSRFL ERQTYNIPGG RHKLNPSQNV AVREALEKPF TVIQGPPGTG KTIVGLHIVF
WFHKSNQEQV QPGGPPRGEK RLGGPCILYC GPSNKSVDVL AGLLLRRMEL KPLRVYSEQA
EASEFPVPRV GSRKLLRKSP REGRPNQSLR SITLHHRIRQ APNPYSSEIK AFDTRLQRGE
LFSREDLVWY KKVLWEARKF ELDRHEVILC TCSCAASASL KILDVRQILV DEAGMATEPE
TLIPLVQFPQ AEKVVLLGDH KQLRPVVKNE RLQNLGLDRS LFERYHEDAH MLDTQYRMHE
GICAFPSVAF YKSKLKTWQG LRRPPSVLGH AGKESCPVIF GHVQGHERSL LVSTDEGNEN
SKANLEEVAE VVRITKQLTL GRTVEPQDIA VLTPYNAQAS EISKALRREG IAGVAVSSIT
KSQGSEWRYV LVSTVRTCAK SDLDQRPTKS WLKKFLGFVV DPNQVNVAVT RAQEGLCLIG
DHLLLRCCPL WRSLLDFCEA QQTLVPAGQV RVCRRPTMPS *

speed

0.47 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: 0.999999999999996 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr20:62194030G>CN/A show variant in all transcripts IGV

HGNC symbol

HELZ2

Ensembl transcript ID

ENST00000467148

Genbank transcript ID

NM_001037335

UniProt peptide

Q9BYK8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.6145C>G
cDNA.6215C>G
g.11563C>G

AA changes

Q2049E Score: 29 explain score(s)

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

2049

frameshift

known variant

Reference ID: rs3810483

database	homozygous (C/C)	heterozygous	allele carriers
1000G	813	1062	1875
ExAC	10064	12639	22703

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.167	0
	2.175	0.09
(flanking)	-3.577	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc marginally increased	11555	wt: 0.2645 / mu: 0.2975 (marginal change - not scored)	wt: GTATACCTGGGTGGCCCACGGGCAGACGCAGGACTGGGACC mu: GTATACCTGGGTGGCCCACGGGCAGACGGAGGACTGGGACC	acgg\|GCAG
Donor gained	11559	0.56	mu: GGGCAGACGGAGGAC	GCAG\|acgg

distance from splice site

158

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

2049

mutated

all conserved

2049

Ptroglodytes

all conserved

ENSPTRG00000013743

2040

Mmulatta

all conserved

ENSMMUG00000006070

1446

Fcatus

no alignment

ENSFCAG00000008926

n/a

Mmusculus

not conserved

ENSMUSG00000027580

2277

SGDWDHELAG

Ggallus

all conserved

ENSGALG00000006138

1968

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000012600

2201

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
2174	2181	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
2203	2203	CONFLICT	G -> S (in Ref. 2; BAE46995).	might get lost (downstream of altered splice site)
2229	2233	MOTIF	LXXLL motif 5.	might get lost (downstream of altered splice site)
2383	2383	CONFLICT	V -> A (in Ref. 2; BAE46995).	might get lost (downstream of altered splice site)
2626	2626	CONFLICT	F -> L (in Ref. 2; BAE46995).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

7950 / 7950

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

2650 / 2650

position of stopcodon in wt / mu cDNA

8020 / 8020

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

71 / 71

chromosome

strand

-1

last intron/exon boundary

7896

theoretical NMD boundary in CDS

7775

length of CDS

7950

coding sequence (CDS) position

6145

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

6215

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

11563

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

62194030

original gDNA sequence snippet

GGGTGGCCCACGGGCAGACGCAGGACTGGGACCAGGAGCGC

altered gDNA sequence snippet

GGGTGGCCCACGGGCAGACGGAGGACTGGGACCAGGAGCGC

original cDNA sequence snippet

GGGTGGCCCACGGGCAGACGCAGGACTGGGACCAGGAGCGC

altered cDNA sequence snippet

GGGTGGCCCACGGGCAGACGGAGGACTGGGACCAGGAGCGC

wildtype AA sequence

MAVWEAEQLG GLQRGDLLTP PAPDGDGRTA PLGQPPGAQL YCPACLVTCH SQEAFENHCA
SSEHAQMVAF DQALPWEHRS PPPGLSKFEL CPKPDLCEYG DACTKAHSAQ ELQEWVRRTQ
AVELRGQAAW QDGLVPYQER LLAEYQRSSS EVLVLAETLD GVRVTCNQPL MYQAQERKTQ
YSWTFAVHSE EPLLHVALLK QEPGADFSLV APGLPPGRLY ARGERFRVPS STADFQVGVR
VQAASFGTFE QWVVFDFGRR PVLLQKLGLQ LGQGRRPGPC RNLALGHPEE MERWHTGNRH
VVPGVERTAE QTALMAKYKG PALALEFNRS SVASGPISPT NYRQRMHQFL YEEEAAQQQL
VAKLTLRGQV FLKTALQTPA LNMLFAPPGA LYAEVPVPSS LMPDTDQGFL LGRAVSTALV
APVPAPDNTV FEVRLERRAS SEQALWLLLP ARCCLALGLQ PEARLVLEVQ FQIDPMTFRL
WHQAVDTLPE EQLVVPDLPT CALPRPWSVP PLRRGNRKQE LAVALIAGWG PGDGRRVPPL
LIYGPFGTGK TYTLAMASLE VIRRPETKVL ICTHTNSAAD IYIREYFHSH VSGGHPEATP
LRVMYTDRPL SQTDPVTLQY CCLTDDRQAF RPPTRAELAR HRVVVTTTSQ ARELRVPVGF
FSHILIDEAA QMLECEALTP LAYASHGTRL VLAGDHMQVT PRLFSVARAR AAEHTLLHRL
FLCYQQETHE VARQSRLVFH ENYRCTDAIV SFISRHFYVA KGNPIHARGK VPPHPRHYPL
MFCHVAGSPD RDMSMASWLN LAEIAQVVEK VQEAYNTWPS CWGGREQRCI CVVSHGAQVS
ALRQELRRRD LGQVSVGSFE ILPGRQFRVV VLSTVHTCQS LLSPGALAPE FFTDARVLNT
VLTRAQSQLV VVGDAVALCS FGACGKLWES FIRECVERHS VCPEGLSMEQ VEQGVAQRRR
WPPRGTQAGA AGNWEAAPEP VGDLAEEQAA VVTAMVKAEP GDEALSPASR DITATTAQTE
AAAAPAGDAV KEDVVPGACA AGAAAAAGVE STEAEDAEAD FWPWDGELNA DDAILRELLD
ESQKVMVTVG EDGLLDTVAR PESLQQARLY ENLPPAALRK LLHAEPERYR HCSFVPETFE
RASAIPLDDA SSGPIQVRGR LDCGMAFAGD EVLVQLLSGD KAPEGRLRGR VLGVLKRKRH
ELAFVCRMDT WDPRIMVPIN GSVTKIFVAE LKDPSQVPIY SLRKGRLQRV GLERLTAEAR
HSRLFWVQIV LWRQGFYYPL GIVREVLPEA STWEQGLRIL GLEYSLRVPP SDQATITKVL
QKYHTELGRV AGRREDCRAF LTFTVDPQGA CNLDDALSVR DLGPRCEVAV HITDVASFVP
RDGVLDVEAR RQGAAFYAPG REPVPMLPAS LCQDVLSLLP GRDRLAISLF LTMEKASGQL
KSLRFAPSVV QSDRQLSYEE AEEVIRQHPG AGRELPARLD SVDACVVAAC YFSRLLRRHR
LRSDCFYEQP DEDGTLGFRA AHIMVKEYMI QFNRLVAEFL VGSECTRTVT PLRWQPAPRS
QQLKALCEKH GDRVPLSLHL GHHLHGGGGS PPDTRLHLLA SLWKQVQFAA RTQDYEQMVD
LVTTDDMHPF LAPAGRDLRK ALERSAFGRC ARGHQQQGGH YSLQVDWYTW ATSPIRRYLD
VVLQRQILLA LGHGGSAYSA RDIDGLCQAF SLQHALAQSY QRRARSLHLA VQLKAQPLDK
LGFVVDVEAG SRCFRLLFPS NRETLPDPCP VPYGSLQLAE HPHALAGRPG LRLLWRRRVY
SAQGSSPPLP LPGTVPDPHT LAVETALWKQ LLELVELQRW PEAAALIQEK GEASQRRELV
QVQRSHCGHF LEVARELGSG DTLQVQLGTS LQHGFLVPSP QLWTVAPGFS LCLEHVERPG
DCFSGRVYRA PRDRYRDVDE YACVWEPFCA LESATGAVAE NDSVTLQHLS VSWEASRTPQ
GQLQGAFRLE AAFLEENCAD INFSCCYLCI RLEGLPAPTA SPRPGPSSLG PGLNVDPGTY
TWVAHGQTQD WDQERRADRQ EAPRRVHLFV HHMGMEKVPE EVLRPGTLFT VELLPKQLPD
LRKEEAVRGL EEASPLVTSI ALGRPVPQPL CRVIPSRFLE RQTYNIPGGR HKLNPSQNVA
VREALEKPFT VIQGPPGTGK TIVGLHIVFW FHKSNQEQVQ PGGPPRGEKR LGGPCILYCG
PSNKSVDVLA GLLLRRMELK PLRVYSEQAE ASEFPVPRVG SRKLLRKSPR EGRPNQSLRS
ITLHHRIRQA PNPYSSEIKA FDTRLQRGEL FSREDLVWYK KVLWEARKFE LDRHEVILCT
CSCAASASLK ILDVRQILVD EAGMATEPET LIPLVQFPQA EKVVLLGDHK QLRPVVKNER
LQNLGLDRSL FERYHEDAHM LDTQYRMHEG ICAFPSVAFY KSKLKTWQGL RRPPSVLGHA
GKESCPVIFG HVQGHERSLL VSTDEGNENS KANLEEVAEV VRITKQLTLG RTVEPQDIAV
LTPYNAQASE ISKALRREGI AGVAVSSITK SQGSEWRYVL VSTVRTCAKS DLDQRPTKSW
LKKFLGFVVD PNQVNVAVTR AQEGLCLIGD HLLLRCCPLW RSLLDFCEAQ QTLVPAGQVR
VCRRPTMPS*

mutated AA sequence

MAVWEAEQLG GLQRGDLLTP PAPDGDGRTA PLGQPPGAQL YCPACLVTCH SQEAFENHCA
SSEHAQMVAF DQALPWEHRS PPPGLSKFEL CPKPDLCEYG DACTKAHSAQ ELQEWVRRTQ
AVELRGQAAW QDGLVPYQER LLAEYQRSSS EVLVLAETLD GVRVTCNQPL MYQAQERKTQ
YSWTFAVHSE EPLLHVALLK QEPGADFSLV APGLPPGRLY ARGERFRVPS STADFQVGVR
VQAASFGTFE QWVVFDFGRR PVLLQKLGLQ LGQGRRPGPC RNLALGHPEE MERWHTGNRH
VVPGVERTAE QTALMAKYKG PALALEFNRS SVASGPISPT NYRQRMHQFL YEEEAAQQQL
VAKLTLRGQV FLKTALQTPA LNMLFAPPGA LYAEVPVPSS LMPDTDQGFL LGRAVSTALV
APVPAPDNTV FEVRLERRAS SEQALWLLLP ARCCLALGLQ PEARLVLEVQ FQIDPMTFRL
WHQAVDTLPE EQLVVPDLPT CALPRPWSVP PLRRGNRKQE LAVALIAGWG PGDGRRVPPL
LIYGPFGTGK TYTLAMASLE VIRRPETKVL ICTHTNSAAD IYIREYFHSH VSGGHPEATP
LRVMYTDRPL SQTDPVTLQY CCLTDDRQAF RPPTRAELAR HRVVVTTTSQ ARELRVPVGF
FSHILIDEAA QMLECEALTP LAYASHGTRL VLAGDHMQVT PRLFSVARAR AAEHTLLHRL
FLCYQQETHE VARQSRLVFH ENYRCTDAIV SFISRHFYVA KGNPIHARGK VPPHPRHYPL
MFCHVAGSPD RDMSMASWLN LAEIAQVVEK VQEAYNTWPS CWGGREQRCI CVVSHGAQVS
ALRQELRRRD LGQVSVGSFE ILPGRQFRVV VLSTVHTCQS LLSPGALAPE FFTDARVLNT
VLTRAQSQLV VVGDAVALCS FGACGKLWES FIRECVERHS VCPEGLSMEQ VEQGVAQRRR
WPPRGTQAGA AGNWEAAPEP VGDLAEEQAA VVTAMVKAEP GDEALSPASR DITATTAQTE
AAAAPAGDAV KEDVVPGACA AGAAAAAGVE STEAEDAEAD FWPWDGELNA DDAILRELLD
ESQKVMVTVG EDGLLDTVAR PESLQQARLY ENLPPAALRK LLHAEPERYR HCSFVPETFE
RASAIPLDDA SSGPIQVRGR LDCGMAFAGD EVLVQLLSGD KAPEGRLRGR VLGVLKRKRH
ELAFVCRMDT WDPRIMVPIN GSVTKIFVAE LKDPSQVPIY SLRKGRLQRV GLERLTAEAR
HSRLFWVQIV LWRQGFYYPL GIVREVLPEA STWEQGLRIL GLEYSLRVPP SDQATITKVL
QKYHTELGRV AGRREDCRAF LTFTVDPQGA CNLDDALSVR DLGPRCEVAV HITDVASFVP
RDGVLDVEAR RQGAAFYAPG REPVPMLPAS LCQDVLSLLP GRDRLAISLF LTMEKASGQL
KSLRFAPSVV QSDRQLSYEE AEEVIRQHPG AGRELPARLD SVDACVVAAC YFSRLLRRHR
LRSDCFYEQP DEDGTLGFRA AHIMVKEYMI QFNRLVAEFL VGSECTRTVT PLRWQPAPRS
QQLKALCEKH GDRVPLSLHL GHHLHGGGGS PPDTRLHLLA SLWKQVQFAA RTQDYEQMVD
LVTTDDMHPF LAPAGRDLRK ALERSAFGRC ARGHQQQGGH YSLQVDWYTW ATSPIRRYLD
VVLQRQILLA LGHGGSAYSA RDIDGLCQAF SLQHALAQSY QRRARSLHLA VQLKAQPLDK
LGFVVDVEAG SRCFRLLFPS NRETLPDPCP VPYGSLQLAE HPHALAGRPG LRLLWRRRVY
SAQGSSPPLP LPGTVPDPHT LAVETALWKQ LLELVELQRW PEAAALIQEK GEASQRRELV
QVQRSHCGHF LEVARELGSG DTLQVQLGTS LQHGFLVPSP QLWTVAPGFS LCLEHVERPG
DCFSGRVYRA PRDRYRDVDE YACVWEPFCA LESATGAVAE NDSVTLQHLS VSWEASRTPQ
GQLQGAFRLE AAFLEENCAD INFSCCYLCI RLEGLPAPTA SPRPGPSSLG PGLNVDPGTY
TWVAHGQTED WDQERRADRQ EAPRRVHLFV HHMGMEKVPE EVLRPGTLFT VELLPKQLPD
LRKEEAVRGL EEASPLVTSI ALGRPVPQPL CRVIPSRFLE RQTYNIPGGR HKLNPSQNVA
VREALEKPFT VIQGPPGTGK TIVGLHIVFW FHKSNQEQVQ PGGPPRGEKR LGGPCILYCG
PSNKSVDVLA GLLLRRMELK PLRVYSEQAE ASEFPVPRVG SRKLLRKSPR EGRPNQSLRS
ITLHHRIRQA PNPYSSEIKA FDTRLQRGEL FSREDLVWYK KVLWEARKFE LDRHEVILCT
CSCAASASLK ILDVRQILVD EAGMATEPET LIPLVQFPQA EKVVLLGDHK QLRPVVKNER
LQNLGLDRSL FERYHEDAHM LDTQYRMHEG ICAFPSVAFY KSKLKTWQGL RRPPSVLGHA
GKESCPVIFG HVQGHERSLL VSTDEGNENS KANLEEVAEV VRITKQLTLG RTVEPQDIAV
LTPYNAQASE ISKALRREGI AGVAVSSITK SQGSEWRYVL VSTVRTCAKS DLDQRPTKSW
LKKFLGFVVD PNQVNVAVTR AQEGLCLIGD HLLLRCCPLW RSLLDFCEAQ QTLVPAGQVR
VCRRPTMPS*

speed

1.01 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems