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: ENST00000447313
Querying Taster for transcript #2: ENST00000303868
MT speed 2.09 s - this script 4.125363 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
WDR87	polymorphism_automatic	4.57300863843102e-12	simple_aae		affected		R1622Q	single base exchange	rs6508750		show file
WDR87	polymorphism_automatic	4.57300863843102e-12	simple_aae		affected		R1583Q	single base exchange	rs6508750		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999995427 (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)

chr19:38379446C>TN/A show variant in all transcripts IGV

HGNC symbol

WDR87

Ensembl transcript ID

ENST00000447313

Genbank transcript ID

N/A

UniProt peptide

Q6ZQQ6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.4865G>A
cDNA.5026G>A
g.17872G>A

AA changes

R1622Q Score: 43 explain score(s)

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

1622

frameshift

known variant

Reference ID: rs6508750

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	3192	5314	8506

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.256	0
	-0.219	0
(flanking)	0.009	0.004

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	17876	wt: 0.9124 / mu: 0.9484 (marginal change - not scored)	wt: CGAGCTGAAAAAAAA mu: CAAGCTGAAAAAAAA	AGCT\|gaaa
Donor increased	17868	wt: 0.75 / mu: 0.99	wt: AACGAGCCCGAGCTG mu: AACGAGCCCAAGCTG	CGAG\|cccg
Donor increased	17873	wt: 0.77 / mu: 0.96	wt: GCCCGAGCTGAAAAA mu: GCCCAAGCTGAAAAA	CCGA\|gctg
Donor gained	17874	0.43	mu: CCCAAGCTGAAAAAA	CAAG\|ctga

distance from splice site

1471

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1622

mutated

all conserved

1622

Ptroglodytes

all identical

ENSPTRG00000029026

1622

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000074224

1668

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1419	2347	COMPBIAS	Glu-rich.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

8739 / 8739

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

2913 / 2913

position of stopcodon in wt / mu cDNA

8900 / 8900

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

162 / 162

chromosome

strand

-1

last intron/exon boundary

3556

theoretical NMD boundary in CDS

3344

length of CDS

8739

coding sequence (CDS) position

4865

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

5026

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

17872

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

38379446

original gDNA sequence snippet

AATACACAGGAAACGAGCCCGAGCTGAAAAAAAACGAGCCC

altered gDNA sequence snippet

AATACACAGGAAACGAGCCCAAGCTGAAAAAAAACGAGCCC

original cDNA sequence snippet

AATACACAGGAAACGAGCCCGAGCTGAAAAAAAACGAGCCC

altered cDNA sequence snippet

AATACACAGGAAACGAGCCCAAGCTGAAAAAAAACGAGCCC

wildtype AA sequence

MSSPRLIPLW KDLKLLLNDT INKSKQPSED PKNCLIVLSD RSQVLFKESR YPQNMPCVCY
YFSDAHFFAS LSWVTSNTKE IQAVAWMKSK TEDMVEKRTF SMTERLPPIQ SMVHAGSFHI
LVVYCGDLIL RLFGDHFRAF KPLGKVPCRF NISCLCYDPE MKMLLSGILG AVVTWVIELG
GTGLQIAHMV SMPGDELVQD IVLNGPSGSL LALCETVVRV LMHQGKGQLG EVKRFTSTSS
GSSITCCFTC FDQGFLYAGN QAGEIQVWSL QQGHPLHSFQ AHQSGVICIR SRPEAHTLLT
AGSDSLIKEW NLTSGSLLRR LELGEELYRL QFIDSITFFC QTAHSFSLHR LPCFYSLFNV
CGSAPQQLRR VCCGNNWFRI LCTTEDGLLR FVSPVTGDLL VITWPFSILD QAVDWAYDPG
KEELFVATGS SEVLVFDTTR CPCPAKYLLG TSPNSQDFVQ CLAYGHFNLG RGLEGLIFSG
HQSGVIRVLS QHSCARLEKF MHFGAVLALS TLSGGIFGGQ GNSLLCSYGM DDYVHLSEAV
LDGVKVQLRP LASILSSCHL THLILLPKSV GAITETNCLR LWKFHDFLSS GSQNGLKFIE
TLPLHLCAIT SFDVCLSLSL FVTGSADGSV RIWDFHGRLI GILDSSLHFG PVCFANDRGD
LLVTFNQSLY LVSCLKLLPP ALLTRLSFMS ISDEVLEVPK PFIPSFFFSF ETMFVPKYIY
PGQAQQKLVG LEKLVNNRAI AFDHSVPHVI EEDEEGSPVL LRSSMHYSLQ DMEDWMQVSK
RYQCHYVLPP QLQLTSWDGL NPYQILRYYF GHGREWLFAP DCYIPNSVIR ARLWPEGTPI
YLQCNLHAPQ RELEWDRSQE FFFWHSRVRA ISNTEYPKNK EEDEHFLEMR LSKDVTYSVL
TDGANRSWLG RKMSEITINS MIETMLNIMV HASLLKYQCC VGALGQIFAS YQVSPALRSE
TARRLLNDTT NSNPLIRELA WEGLKRLGMI THLFAMPLAQ GLMDKDERVR IKTLSLMAEI
GIHSRTSLLQ LTQKQETFRE MQQQMIGEEP LDHLLGMRAT DLQILSTQVE QRLNENLTLS
HRDEKPAFSL DVSMPSELKS SLKPPTVSEE SEVAIKPSKG QRRGQAGVKK HSQKWLRGLK
KTKERDSKQM STEPGLLEDE SGTEAAPIEM EEASVYSQWS SSTSVIKLSK DVDSQEKDIS
KDHIALTLKR LQKIRDKRDK KATAQKLKKK HKKKGKEAKV INEETTPPVM EQPVTKKVKI
QGRGASGISG RRSTAGDGSS WRDDLCRLMA LRISGSQTKM SENLNAELVT FAQEMLVDRH
PSWELFQEIC PLLKKESKVL LEDLDWDVVP PEKKPIFIQE GAIREDMIQG VTQEVIRHKE
VMPREEEQAQ KKARDMLGLE ETQVILKKGK KVIFLEPGNV TMGKEISKKE EKKTFQKSPK
QGRKAVQKER KVGKIKREMT KEERDMSEEV EEMATLEEKV VKQEGKLVMI ERTPSWQDWK
KAWDEWKQVH GETRKSWKAW KEEWEKRLLQ EEEKLHQAGE KLSPEEEMLQ EDKKLKWEEW
KQVWENMLSS KSKEQQYKDE EEVTLEEEVS REGEEKEQQV TEEQRHIQEE HKWARIHRKR
ARAEKKRAQE ERKLAQEEEK LAQEERQLAQ EERKLAQAYV KITQDDREMA QAEGKFAQKE
ETLAQRGEKL SQEAEKLAQK RKKLAKKWEK VAREEEKLAK KGGKLAEVKN ILAQKVEELP
QREQNLDWQE KELAQELEEL EWDMEELSWK EEELNQEEGK LVEEKKKLAE EEEALAWQRE
KLSEEETKLA QEEELLIQEK EKLAQHKEKM PEEEERLGRK REQLIEKKMK LAQKRERWIN
SMEELTKNKM ILYQKKNLAQ EKKNLAQEKE KLAQRKENLL YNKERLTHSK KQLVQVKNKL
GMFNKILAQV EEKLTQEKET VIKKKEKLAE TEKKLVQVED SLAKKQEKLA QEKMKLALEK
AMVQGKKRLR GELDIAKEEK ALNLEMKRLA EEKMRLVEGK ETLSKGETPE TSRQRKMTQV
EQELFERKLS LEEKILLHED RILAMEESEI AKGKLEFTRG QRIFVQGQRK LAKASRKLIK
KRESLSKEPA KLNKILKALQ KLTRDERKLT QEEIKMTKMK RALFVKERRL SIEQSKLDIK
EWDFSEKRSE LTKDEKKLAR KQRKLANKMR RMINKEEKMT EEESKLARKH SEVILDDEEE
GGIEEEEVIP FLKRRWRKRK EAKRGDKPKE KFSSQVDEVE SEEHFSEEME SLLDELEKQE
SLSSEEEEER EEEEEREEEE VREEEEERKE EEEGEEKQVE KEEEEKKKKK KEKKKEEVQE
KEEVFEEKEE IMSEEETESL SDEEEEEESC SLEEEVDREK EILKKEKQFK LQEQRRKSLR
GRERVLSILR GVPHGKGRAI RLGVLKSPLK KLMSTALEMK EKTPVPVPEK QISWEDKKAT
VVEIPRKFLG TMDKEREVMG KYEPIPPHVL GTVLESQAQD LKTPFMSHIL RRTVEAEELQ
HKPLGAWWKW FLQHPPLMGQ TEVQLPLSQI PAKEQHADVS LSDVEWIRHV LERMEAGEQL
SRDGFHRLCQ LLKDLASKGN LEWLHLAKHE AIVYRHRQAL ESQDTRISSR QSMSPKYLKV
IPPIKAKEKE SWPKPLAVPT QKSPLATKRI PDPRAKNWHL LGEPYRSERA QQISIAHKEM
EMQYFYPATR DIFPSAHASV EKQTLALMFQ KDFWDFKDKR RFPKLPKLEK KTQPISKKKE
ELPLWETFVA LYHVLRMLQQ RYPKDSTAWM EQFYQLMDLY QLKSPRIQKL LQELLMREEP
QPQEIIYEEA LKATELVPGE RLFCCLFCGS SHTPRSPQEF QGAVPLPWQN CVRTILPVGI
ARYGILELAW KSLPEADLHL TKALTHTVAP TL*

mutated AA sequence

MSSPRLIPLW KDLKLLLNDT INKSKQPSED PKNCLIVLSD RSQVLFKESR YPQNMPCVCY
YFSDAHFFAS LSWVTSNTKE IQAVAWMKSK TEDMVEKRTF SMTERLPPIQ SMVHAGSFHI
LVVYCGDLIL RLFGDHFRAF KPLGKVPCRF NISCLCYDPE MKMLLSGILG AVVTWVIELG
GTGLQIAHMV SMPGDELVQD IVLNGPSGSL LALCETVVRV LMHQGKGQLG EVKRFTSTSS
GSSITCCFTC FDQGFLYAGN QAGEIQVWSL QQGHPLHSFQ AHQSGVICIR SRPEAHTLLT
AGSDSLIKEW NLTSGSLLRR LELGEELYRL QFIDSITFFC QTAHSFSLHR LPCFYSLFNV
CGSAPQQLRR VCCGNNWFRI LCTTEDGLLR FVSPVTGDLL VITWPFSILD QAVDWAYDPG
KEELFVATGS SEVLVFDTTR CPCPAKYLLG TSPNSQDFVQ CLAYGHFNLG RGLEGLIFSG
HQSGVIRVLS QHSCARLEKF MHFGAVLALS TLSGGIFGGQ GNSLLCSYGM DDYVHLSEAV
LDGVKVQLRP LASILSSCHL THLILLPKSV GAITETNCLR LWKFHDFLSS GSQNGLKFIE
TLPLHLCAIT SFDVCLSLSL FVTGSADGSV RIWDFHGRLI GILDSSLHFG PVCFANDRGD
LLVTFNQSLY LVSCLKLLPP ALLTRLSFMS ISDEVLEVPK PFIPSFFFSF ETMFVPKYIY
PGQAQQKLVG LEKLVNNRAI AFDHSVPHVI EEDEEGSPVL LRSSMHYSLQ DMEDWMQVSK
RYQCHYVLPP QLQLTSWDGL NPYQILRYYF GHGREWLFAP DCYIPNSVIR ARLWPEGTPI
YLQCNLHAPQ RELEWDRSQE FFFWHSRVRA ISNTEYPKNK EEDEHFLEMR LSKDVTYSVL
TDGANRSWLG RKMSEITINS MIETMLNIMV HASLLKYQCC VGALGQIFAS YQVSPALRSE
TARRLLNDTT NSNPLIRELA WEGLKRLGMI THLFAMPLAQ GLMDKDERVR IKTLSLMAEI
GIHSRTSLLQ LTQKQETFRE MQQQMIGEEP LDHLLGMRAT DLQILSTQVE QRLNENLTLS
HRDEKPAFSL DVSMPSELKS SLKPPTVSEE SEVAIKPSKG QRRGQAGVKK HSQKWLRGLK
KTKERDSKQM STEPGLLEDE SGTEAAPIEM EEASVYSQWS SSTSVIKLSK DVDSQEKDIS
KDHIALTLKR LQKIRDKRDK KATAQKLKKK HKKKGKEAKV INEETTPPVM EQPVTKKVKI
QGRGASGISG RRSTAGDGSS WRDDLCRLMA LRISGSQTKM SENLNAELVT FAQEMLVDRH
PSWELFQEIC PLLKKESKVL LEDLDWDVVP PEKKPIFIQE GAIREDMIQG VTQEVIRHKE
VMPREEEQAQ KKARDMLGLE ETQVILKKGK KVIFLEPGNV TMGKEISKKE EKKTFQKSPK
QGRKAVQKER KVGKIKREMT KEERDMSEEV EEMATLEEKV VKQEGKLVMI ERTPSWQDWK
KAWDEWKQVH GETRKSWKAW KEEWEKRLLQ EEEKLHQAGE KLSPEEEMLQ EDKKLKWEEW
KQVWENMLSS KSKEQQYKDE EEVTLEEEVS REGEEKEQQV TEEQRHIQEE HKWARIHRKR
AQAEKKRAQE ERKLAQEEEK LAQEERQLAQ EERKLAQAYV KITQDDREMA QAEGKFAQKE
ETLAQRGEKL SQEAEKLAQK RKKLAKKWEK VAREEEKLAK KGGKLAEVKN ILAQKVEELP
QREQNLDWQE KELAQELEEL EWDMEELSWK EEELNQEEGK LVEEKKKLAE EEEALAWQRE
KLSEEETKLA QEEELLIQEK EKLAQHKEKM PEEEERLGRK REQLIEKKMK LAQKRERWIN
SMEELTKNKM ILYQKKNLAQ EKKNLAQEKE KLAQRKENLL YNKERLTHSK KQLVQVKNKL
GMFNKILAQV EEKLTQEKET VIKKKEKLAE TEKKLVQVED SLAKKQEKLA QEKMKLALEK
AMVQGKKRLR GELDIAKEEK ALNLEMKRLA EEKMRLVEGK ETLSKGETPE TSRQRKMTQV
EQELFERKLS LEEKILLHED RILAMEESEI AKGKLEFTRG QRIFVQGQRK LAKASRKLIK
KRESLSKEPA KLNKILKALQ KLTRDERKLT QEEIKMTKMK RALFVKERRL SIEQSKLDIK
EWDFSEKRSE LTKDEKKLAR KQRKLANKMR RMINKEEKMT EEESKLARKH SEVILDDEEE
GGIEEEEVIP FLKRRWRKRK EAKRGDKPKE KFSSQVDEVE SEEHFSEEME SLLDELEKQE
SLSSEEEEER EEEEEREEEE VREEEEERKE EEEGEEKQVE KEEEEKKKKK KEKKKEEVQE
KEEVFEEKEE IMSEEETESL SDEEEEEESC SLEEEVDREK EILKKEKQFK LQEQRRKSLR
GRERVLSILR GVPHGKGRAI RLGVLKSPLK KLMSTALEMK EKTPVPVPEK QISWEDKKAT
VVEIPRKFLG TMDKEREVMG KYEPIPPHVL GTVLESQAQD LKTPFMSHIL RRTVEAEELQ
HKPLGAWWKW FLQHPPLMGQ TEVQLPLSQI PAKEQHADVS LSDVEWIRHV LERMEAGEQL
SRDGFHRLCQ LLKDLASKGN LEWLHLAKHE AIVYRHRQAL ESQDTRISSR QSMSPKYLKV
IPPIKAKEKE SWPKPLAVPT QKSPLATKRI PDPRAKNWHL LGEPYRSERA QQISIAHKEM
EMQYFYPATR DIFPSAHASV EKQTLALMFQ KDFWDFKDKR RFPKLPKLEK KTQPISKKKE
ELPLWETFVA LYHVLRMLQQ RYPKDSTAWM EQFYQLMDLY QLKSPRIQKL LQELLMREEP
QPQEIIYEEA LKATELVPGE RLFCCLFCGS SHTPRSPQEF QGAVPLPWQN CVRTILPVGI
ARYGILELAW KSLPEADLHL TKALTHTVAP TL*

speed

0.89 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: 0.999999999995427 (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)

chr19:38379446C>TN/A show variant in all transcripts IGV

HGNC symbol

WDR87

Ensembl transcript ID

ENST00000303868

Genbank transcript ID

NM_031951

UniProt peptide

Q6ZQQ6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.4748G>A
cDNA.4973G>A
g.17872G>A

AA changes

R1583Q Score: 43 explain score(s)

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

1583

frameshift

known variant

Reference ID: rs6508750

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	3192	5314	8506

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.256	0
	-0.219	0
(flanking)	0.009	0.004

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	17876	wt: 0.9124 / mu: 0.9484 (marginal change - not scored)	wt: CGAGCTGAAAAAAAA mu: CAAGCTGAAAAAAAA	AGCT\|gaaa
Donor increased	17868	wt: 0.75 / mu: 0.99	wt: AACGAGCCCGAGCTG mu: AACGAGCCCAAGCTG	CGAG\|cccg
Donor increased	17873	wt: 0.77 / mu: 0.96	wt: GCCCGAGCTGAAAAA mu: GCCCAAGCTGAAAAA	CCGA\|gctg
Donor gained	17874	0.43	mu: CCCAAGCTGAAAAAA	CAAG\|ctga

distance from splice site

1471

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1583

mutated

all conserved

1583

Ptroglodytes

all identical

ENSPTRG00000029026

1622

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000074224

1668

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1419	2347	COMPBIAS	Glu-rich.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

8622 / 8622

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

2874 / 2874

position of stopcodon in wt / mu cDNA

8847 / 8847

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

226 / 226

chromosome

strand

-1

last intron/exon boundary

3503

theoretical NMD boundary in CDS

3227

length of CDS

8622

coding sequence (CDS) position

4748

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

4973

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

17872

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

38379446

original gDNA sequence snippet

AATACACAGGAAACGAGCCCGAGCTGAAAAAAAACGAGCCC

altered gDNA sequence snippet

AATACACAGGAAACGAGCCCAAGCTGAAAAAAAACGAGCCC

original cDNA sequence snippet

AATACACAGGAAACGAGCCCGAGCTGAAAAAAAACGAGCCC

altered cDNA sequence snippet

AATACACAGGAAACGAGCCCAAGCTGAAAAAAAACGAGCCC

wildtype AA sequence

MSSPRLIPLW KDLKLLLNDT INKSKQPSED PKNCLIVLSD RSQAVAWMKS KTEDMVEKRT
FSMTERLPPI QSMVHAGSFH ILVVYCGDLI LRLFGDHFRA FKPLGKVPCR FNISCLCYDP
EMKMLLSGIL GAVVTWVIEL GGTGLQIAHM VSMPGDELVQ DIVLNGPSGS LLALCETVVR
VLMHQGKGQL GEVKRFTSTS SGSSITCCFT CFDQGFLYAG NQAGEIQVWS LQQGHPLHSF
QAHQSGVICI RSRPEAHTLL TAGSDSLIKE WNLTSGSLLR RLELGEELYR LQFIDSITFF
CQTAHSFSLH RLPCFYSLFN VCGSAPQQLR RVCCGNNWFR ILCTTEDGLL RFVSPVTGDL
LVITWPFSIL DQAVDWAYDP GKEELFVATG SSEVLVFDTT RCPCPAKYLL GTSPNSQDFV
QCLAYGHFNL GRGLEGLIFS GHQSGVIRVL SQHSCARLEK FMHFGAVLAL STLSGGIFGG
QGNSLLCSYG MDDYVHLSEA VLDGVKVQLR PLASILSSCH LTHLILLPKS VGAITETNCL
RLWKFHDFLS SGSQNGLKFI ETLPLHLCAI TSFDVCLSLS LFVTGSADGS VRIWDFHGRL
IGILDSSLHF GPVCFANDRG DLLVTFNQSL YLVSCLKLLP PALLTRLSFM SISDEVLEVP
KPFIPSFFFS FETMFVPKYI YPGQAQQKLV GLEKLVNNRA IAFDHSVPHV IEEDEEGSPV
LLRSSMHYSL QDMEDWMQVS KRYQCHYVLP PQLQLTSWDG LNPYQILRYY FGHGREWLFA
PDCYIPNSVI RARLWPEGTP IYLQCNLHAP QRELEWDRSQ EFFFWHSRVR AISNTEYPKN
KEEDEHFLEM RLSKDVTYSV LTDGANRSWL GRKMSEITIN SMIETMLNIM VHASLLKYQC
CVGALGQIFA SYQVSPALRS ETARRLLNDT TNSNPLIREL AWEGLKRLGM ITHLFAMPLA
QGLMDKDERV RIKTLSLMAE IGIHSRTSLL QLTQKQETFR EMQQQMIGEE PLDHLLGMRA
TDLQILSTQV EQRLNENLTL SHRDEKPAFS LDVSMPSELK SSLKPPTVSE ESEVAIKPSK
GQRRGQAGVK KHSQKWLRGL KKTKERDSKQ MSTEPGLLED ESGTEAAPIE MEEASVYSQW
SSSTSVIKLS KDVDSQEKDI SKDHIALTLK RLQKIRDKRD KKATAQKLKK KHKKKGKEAK
VINEETTPPV MEQPVTKKVK IQGRGASGIS GRRSTAGDGS SWRDDLCRLM ALRISGSQTK
MSENLNAELV TFAQEMLVDR HPSWELFQEI CPLLKKESKV LLEDLDWDVV PPEKKPIFIQ
EGAIREDMIQ GVTQEVIRHK EVMPREEEQA QKKARDMLGL EETQVILKKG KKVIFLEPGN
VTMGKEISKK EEKKTFQKSP KQGRKAVQKE RKVGKIKREM TKEERDMSEE VEEMATLEEK
VVKQEGKLVM IERTPSWQDW KKAWDEWKQV HGETRKSWKA WKEEWEKRLL QEEEKLHQAG
EKLSPEEEML QEDKKLKWEE WKQVWENMLS SKSKEQQYKD EEEVTLEEEV SREGEEKEQQ
VTEEQRHIQE EHKWARIHRK RARAEKKRAQ EERKLAQEEE KLAQEERQLA QEERKLAQAY
VKITQDDREM AQAEGKFAQK EETLAQRGEK LSQEAEKLAQ KRKKLAKKWE KVAREEEKLA
KKGGKLAEVK NILAQKVEEL PQREQNLDWQ EKELAQELEE LEWDMEELSW KEEELNQEEG
KLVEEKKKLA EEEEALAWQR EKLSEEETKL AQEEELLIQE KEKLAQHKEK MPEEEERLGR
KREQLIEKKM KLAQKRERWI NSMEELTKNK MILYQKKNLA QEKKNLAQEK EKLAQRKENL
LYNKERLTHS KKQLVQVKNK LGMFNKILAQ VEEKLTQEKE TVIKKKEKLA ETEKKLVQVE
DSLAKKQEKL AQEKMKLALE KAMVQGKKRL RGELDIAKEE KALNLEMKRL AEEKMRLVEG
KETLSKGETP ETSRQRKMTQ VEQELFERKL SLEEKILLHE DRILAMEESE IAKGKLEFTR
GQRIFVQGQR KLAKASRKLI KKRESLSKEP AKLNKILKAL QKLTRDERKL TQEEIKMTKM
KRALFVKERR LSIEQSKLDI KEWDFSEKRS ELTKDEKKLA RKQRKLANKM RRMINKEEKM
TEEESKLARK HSEVILDDEE EGGIEEEEVI PFLKRRWRKR KEAKRGDKPK EKFSSQVDEV
ESEEHFSEEM ESLLDELEKQ ESLSSEEEEE REEEEEREEE EVREEEEERK EEEEGEEKQV
EKEEEEKKKK KKEKKKEEVQ EKEEVFEEKE EIMSEEETES LSDEEEEEES CSLEEEVDRE
KEILKKEKQF KLQEQRRKSL RGRERVLSIL RGVPHGKGRA IRLGVLKSPL KKLMSTALEM
KEKTPVPVPE KQISWEDKKA TVVEIPRKFL GTMDKEREVM GKYEPIPPHV LGTVLESQAQ
DLKTPFMSHI LRRTVEAEEL QHKPLGAWWK WFLQHPPLMG QTEVQLPLSQ IPAKEQHADV
SLSDVEWIRH VLERMEAGEQ LSRDGFHRLC QLLKDLASKG NLEWLHLAKH EAIVYRHRQA
LESQDTRISS RQSMSPKYLK VIPPIKAKEK ESWPKPLAVP TQKSPLATKR IPDPRAKNWH
LLGEPYRSER AQQISIAHKE MEMQYFYPAT RDIFPSAHAS VEKQTLALMF QKDFWDFKDK
RRFPKLPKLE KKTQPISKKK EELPLWETFV ALYHVLRMLQ QRYPKDSTAW MEQFYQLMDL
YQLKSPRIQK LLQELLMREE PQPQEIIYEE ALKATELVPG ERLFCCLFCG SSHTPRSPQE
FQGAVPLPWQ NCVRTILPVG IARYGILELA WKSLPEADLH LTKALTHTVA PTL*

mutated AA sequence

MSSPRLIPLW KDLKLLLNDT INKSKQPSED PKNCLIVLSD RSQAVAWMKS KTEDMVEKRT
FSMTERLPPI QSMVHAGSFH ILVVYCGDLI LRLFGDHFRA FKPLGKVPCR FNISCLCYDP
EMKMLLSGIL GAVVTWVIEL GGTGLQIAHM VSMPGDELVQ DIVLNGPSGS LLALCETVVR
VLMHQGKGQL GEVKRFTSTS SGSSITCCFT CFDQGFLYAG NQAGEIQVWS LQQGHPLHSF
QAHQSGVICI RSRPEAHTLL TAGSDSLIKE WNLTSGSLLR RLELGEELYR LQFIDSITFF
CQTAHSFSLH RLPCFYSLFN VCGSAPQQLR RVCCGNNWFR ILCTTEDGLL RFVSPVTGDL
LVITWPFSIL DQAVDWAYDP GKEELFVATG SSEVLVFDTT RCPCPAKYLL GTSPNSQDFV
QCLAYGHFNL GRGLEGLIFS GHQSGVIRVL SQHSCARLEK FMHFGAVLAL STLSGGIFGG
QGNSLLCSYG MDDYVHLSEA VLDGVKVQLR PLASILSSCH LTHLILLPKS VGAITETNCL
RLWKFHDFLS SGSQNGLKFI ETLPLHLCAI TSFDVCLSLS LFVTGSADGS VRIWDFHGRL
IGILDSSLHF GPVCFANDRG DLLVTFNQSL YLVSCLKLLP PALLTRLSFM SISDEVLEVP
KPFIPSFFFS FETMFVPKYI YPGQAQQKLV GLEKLVNNRA IAFDHSVPHV IEEDEEGSPV
LLRSSMHYSL QDMEDWMQVS KRYQCHYVLP PQLQLTSWDG LNPYQILRYY FGHGREWLFA
PDCYIPNSVI RARLWPEGTP IYLQCNLHAP QRELEWDRSQ EFFFWHSRVR AISNTEYPKN
KEEDEHFLEM RLSKDVTYSV LTDGANRSWL GRKMSEITIN SMIETMLNIM VHASLLKYQC
CVGALGQIFA SYQVSPALRS ETARRLLNDT TNSNPLIREL AWEGLKRLGM ITHLFAMPLA
QGLMDKDERV RIKTLSLMAE IGIHSRTSLL QLTQKQETFR EMQQQMIGEE PLDHLLGMRA
TDLQILSTQV EQRLNENLTL SHRDEKPAFS LDVSMPSELK SSLKPPTVSE ESEVAIKPSK
GQRRGQAGVK KHSQKWLRGL KKTKERDSKQ MSTEPGLLED ESGTEAAPIE MEEASVYSQW
SSSTSVIKLS KDVDSQEKDI SKDHIALTLK RLQKIRDKRD KKATAQKLKK KHKKKGKEAK
VINEETTPPV MEQPVTKKVK IQGRGASGIS GRRSTAGDGS SWRDDLCRLM ALRISGSQTK
MSENLNAELV TFAQEMLVDR HPSWELFQEI CPLLKKESKV LLEDLDWDVV PPEKKPIFIQ
EGAIREDMIQ GVTQEVIRHK EVMPREEEQA QKKARDMLGL EETQVILKKG KKVIFLEPGN
VTMGKEISKK EEKKTFQKSP KQGRKAVQKE RKVGKIKREM TKEERDMSEE VEEMATLEEK
VVKQEGKLVM IERTPSWQDW KKAWDEWKQV HGETRKSWKA WKEEWEKRLL QEEEKLHQAG
EKLSPEEEML QEDKKLKWEE WKQVWENMLS SKSKEQQYKD EEEVTLEEEV SREGEEKEQQ
VTEEQRHIQE EHKWARIHRK RAQAEKKRAQ EERKLAQEEE KLAQEERQLA QEERKLAQAY
VKITQDDREM AQAEGKFAQK EETLAQRGEK LSQEAEKLAQ KRKKLAKKWE KVAREEEKLA
KKGGKLAEVK NILAQKVEEL PQREQNLDWQ EKELAQELEE LEWDMEELSW KEEELNQEEG
KLVEEKKKLA EEEEALAWQR EKLSEEETKL AQEEELLIQE KEKLAQHKEK MPEEEERLGR
KREQLIEKKM KLAQKRERWI NSMEELTKNK MILYQKKNLA QEKKNLAQEK EKLAQRKENL
LYNKERLTHS KKQLVQVKNK LGMFNKILAQ VEEKLTQEKE TVIKKKEKLA ETEKKLVQVE
DSLAKKQEKL AQEKMKLALE KAMVQGKKRL RGELDIAKEE KALNLEMKRL AEEKMRLVEG
KETLSKGETP ETSRQRKMTQ VEQELFERKL SLEEKILLHE DRILAMEESE IAKGKLEFTR
GQRIFVQGQR KLAKASRKLI KKRESLSKEP AKLNKILKAL QKLTRDERKL TQEEIKMTKM
KRALFVKERR LSIEQSKLDI KEWDFSEKRS ELTKDEKKLA RKQRKLANKM RRMINKEEKM
TEEESKLARK HSEVILDDEE EGGIEEEEVI PFLKRRWRKR KEAKRGDKPK EKFSSQVDEV
ESEEHFSEEM ESLLDELEKQ ESLSSEEEEE REEEEEREEE EVREEEEERK EEEEGEEKQV
EKEEEEKKKK KKEKKKEEVQ EKEEVFEEKE EIMSEEETES LSDEEEEEES CSLEEEVDRE
KEILKKEKQF KLQEQRRKSL RGRERVLSIL RGVPHGKGRA IRLGVLKSPL KKLMSTALEM
KEKTPVPVPE KQISWEDKKA TVVEIPRKFL GTMDKEREVM GKYEPIPPHV LGTVLESQAQ
DLKTPFMSHI LRRTVEAEEL QHKPLGAWWK WFLQHPPLMG QTEVQLPLSQ IPAKEQHADV
SLSDVEWIRH VLERMEAGEQ LSRDGFHRLC QLLKDLASKG NLEWLHLAKH EAIVYRHRQA
LESQDTRISS RQSMSPKYLK VIPPIKAKEK ESWPKPLAVP TQKSPLATKR IPDPRAKNWH
LLGEPYRSER AQQISIAHKE MEMQYFYPAT RDIFPSAHAS VEKQTLALMF QKDFWDFKDK
RRFPKLPKLE KKTQPISKKK EELPLWETFV ALYHVLRMLQ QRYPKDSTAW MEQFYQLMDL
YQLKSPRIQK LLQELLMREE PQPQEIIYEE ALKATELVPG ERLFCCLFCG SSHTPRSPQE
FQGAVPLPWQ NCVRTILPVG IARYGILELA WKSLPEADLH LTKALTHTVA PTL*

speed

1.20 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems