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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000544484
Querying Taster for transcript #2: ENST00000544040
Querying Taster for transcript #3: ENST00000309577
Querying Taster for transcript #4: ENST00000357008
MT speed 0 s - this script 4.502418 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CHD4	polymorphism_automatic	8.66235353309541e-05	simple_aae				E136D	single base exchange	rs1639122		show file
CHD4	polymorphism_automatic	8.66235353309541e-05	simple_aae				E139D	single base exchange	rs1639122		show file
CHD4	polymorphism_automatic	8.66235353309541e-05	simple_aae				E139D	single base exchange	rs1639122		show file
CHD4	polymorphism_automatic	0.000347242677905979	simple_aae				E132D	single base exchange	rs1639122		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999913376464669 (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)

chr12:6711147C>AN/A show variant in all transcripts IGV

HGNC symbol

CHD4

Ensembl transcript ID

ENST00000544484

Genbank transcript ID

N/A

UniProt peptide

Q14839

alteration type

single base exchange

alteration region

CDS

DNA changes

c.408G>T
cDNA.555G>T
g.5496G>T

AA changes

E136D Score: 45 explain score(s)

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

136

frameshift

known variant

Reference ID: rs1639122

database	homozygous (A/A)	heterozygous	allele carriers
1000G	890	990	1880
ExAC	8150	16467	24617

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.925	0.964
	-1.489	0.204
(flanking)	4.621	0.998

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

136

mutated

all conserved

136

Ptroglodytes

no homologue

Mmulatta

all conserved

ENSMMUG00000018685

139

Fcatus

all conserved

ENSFCAG00000006877

105

Mmusculus

all identical

ENSMUSG00000063870

139

Ggallus

all identical

ENSGALG00000013565

109

Trubripes

no homologue

Drerio

all identical

ENSDARG00000063535

126

Dmelanogaster

not conserved

FBgn0262519

128

Celegans

not conserved

T14G8.1

Xtropicalis

all conserved

ENSXETG00000018961

107

protein features

start (aa)	end (aa)	feature	details
134	138	COMPBIAS	Poly-Glu.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5814 / 5814

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

1938 / 1938

position of stopcodon in wt / mu cDNA

5961 / 5961

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

148 / 148

chromosome

strand

-1

last intron/exon boundary

5944

theoretical NMD boundary in CDS

5746

length of CDS

5814

coding sequence (CDS) position

408

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

555

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

5496

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

6711147

original gDNA sequence snippet

AAGGAGGAGGAGGAGGAGGAGGATGATGATGATGATTCAAA

altered gDNA sequence snippet

AAGGAGGAGGAGGAGGAGGATGATGATGATGATGATTCAAA

original cDNA sequence snippet

AAGGAGGAGGAGGAGGAGGAGGATGATGATGATGATTCAAA

altered cDNA sequence snippet

AAGGAGGAGGAGGAGGAGGATGATGATGATGATGATTCAAA

wildtype AA sequence

MASGLGSPSP CSAGSEEEDM DALLNNSLPP PHPEDPEEDL SETETPKLKK KKKPKKPRDP
KIPKSKRQKK ERMLLCRQLG DSSGEGPEFV EEEEEVALRS DSEGSDYTPG KKKKKKLGPK
KEKKSKSKRK EEEEEEDDDD DSKEPKSSAQ LLEDWGMEDI DHVFSEEDYR TLTNYKAFSQ
FVRPLIAAKN PKIAVSKMMM VLGAKWREFS TNNPFKGSSG ASVAAAAAAA VAVVESMVTA
TEVAPPPPPV EVPIRKAKTK EGKGPNARRK PKGSPRVPDA KKPKPKKVAP LKIKLGGFGS
KRKRSSSEDD DLDVESDFDD ASINSYSVSD GSTSRSSRSR KKLRTTKKKK KGEEEVTAVD
GYETDHQDYC EVCQQGGEII LCDTCPRAYH MVCLDPDMEK APEGKWSCPH CEKEGIQWEA
KEDNSEGEEI LEEVGGDLEE EDDHHMEFCR VCKDGGELLC CDTCPSSYHI HCLNPPLPEI
PNGEWLCPRC TCPALKGKVQ KILIWKWGQP PSPTPVPRPP DADPNTPSPK PLEGRPERQF
FVKWQGMSYW HCSWVSELQL ELHCQVMFRN YQRKNDMDEP PSGDFGGDEE KSRKRKNKDP
KFAEMEERFY RYGIKPEWMM IHRILNHSVD KKGHVHYLIK WRDLPYDQAS WESEDVEIQD
YDLFKQSYWN HRELMRGEEG RPGKKLKKVK LRKLERPPET PTVDPTVKYE RQPEYLDATG
GTLHPYQMEG LNWLRFSWAQ GTDTILADEM GLGKTVQTAV FLYSLYKEGH SKGPFLVSAP
LSTIINWERE FEMWAPDMYV VTYVGDKDSR AIIRENEFSF EDNAIRGGKK ASRMKKEASV
KFHVLLTSYE LITIDMAILG SIDWACLIVD EAHRLKNNQS KFFRVLNGYS LQHKLLLTGT
PLQNNLEELF HLLNFLTPER FHNLEGFLEE FADIAKEDQI KKLHDMLGPH MLRRLKADVF
KNMPSKTELI VRVELSPMQK KYYKYILTRN FEALNARGGG NQVSLLNVVM DLKKCCNHPY
LFPVAAMEAP KMPNGMYDGS ALIRASGKLL LLQKMLKNLK EGGHRVLIFS QMTKMLDLLE
DFLEHEGYKY ERIDGGITGN MRQEAIDRFN APGAQQFCFL LSTRAGGLGI NLATADTVII
YDSDWNPHND IQAFSRAHRI GQNKKVMIYR FVTRASVEER ITQVAKKKMM LTHLVVRPGL
GSKTGSMSKQ ELDDILKFGT EELFKDEATD GGGDNKEGED SSVIHYDDKA IERLLDRNQD
ETEDTELQGM NEYLSSFKVA QYVVREEEMG EEEEVEREII KQEESVDPDY WEKLLRHHYE
QQQEDLARNL GKGKRIRKQV NYNDGSQEDR GVCGRPRPPP MGRSTRAVGP AHLPSLPPDW
QDDQSDNQSD YSVASEEGDE DFDERSEAPR RPSRKGLRND KDKPLPPLLA RVGGNIEVLG
FNARQRKAFL NAIMRYGMPP QDAFTTQWLV RDLRGKSEKE FKAYVSLFMR HLCEPGADGA
ETFADGVPRE GLSRQHVLTR IGVMSLIRKK VQEFEHVNGR WSMPELAEVE ENKKMSQPGS
PSPKTPTPST PGDTQPNTPA PVPPAEDGIK IEENSLKEEE SIEGEKEVKS TAPETAIECT
QAPAPASEDE KVVVEPPEGE EKVEKAEVKE RTEEPMETEP KGAADVEKVE EKSAIDLTPI
VVEDKEEKKE EEEKKEVMLQ NGETPKDLND EKQKKNIKQR FMFNIADGGF TELHSLWQNE
ERAATVTKKT YEIWHRRHDY WLLAGIINHG YARWQDIQND PRYAILNEPF KGEMNRGNFL
EIKNKFLARR FKLLEQALVI EEQLRRAAYL NMSEDPSHPS MALNTRFAEV ECLAESHQHL
SKESMAGNKP ANAVLHKVLK QLEELLSDMK ADVTRLPATI ARIPPVAVRL QMSERNILSR
LANRAPEPTP QQVAQQQ*

mutated AA sequence

MASGLGSPSP CSAGSEEEDM DALLNNSLPP PHPEDPEEDL SETETPKLKK KKKPKKPRDP
KIPKSKRQKK ERMLLCRQLG DSSGEGPEFV EEEEEVALRS DSEGSDYTPG KKKKKKLGPK
KEKKSKSKRK EEEEEDDDDD DSKEPKSSAQ LLEDWGMEDI DHVFSEEDYR TLTNYKAFSQ
FVRPLIAAKN PKIAVSKMMM VLGAKWREFS TNNPFKGSSG ASVAAAAAAA VAVVESMVTA
TEVAPPPPPV EVPIRKAKTK EGKGPNARRK PKGSPRVPDA KKPKPKKVAP LKIKLGGFGS
KRKRSSSEDD DLDVESDFDD ASINSYSVSD GSTSRSSRSR KKLRTTKKKK KGEEEVTAVD
GYETDHQDYC EVCQQGGEII LCDTCPRAYH MVCLDPDMEK APEGKWSCPH CEKEGIQWEA
KEDNSEGEEI LEEVGGDLEE EDDHHMEFCR VCKDGGELLC CDTCPSSYHI HCLNPPLPEI
PNGEWLCPRC TCPALKGKVQ KILIWKWGQP PSPTPVPRPP DADPNTPSPK PLEGRPERQF
FVKWQGMSYW HCSWVSELQL ELHCQVMFRN YQRKNDMDEP PSGDFGGDEE KSRKRKNKDP
KFAEMEERFY RYGIKPEWMM IHRILNHSVD KKGHVHYLIK WRDLPYDQAS WESEDVEIQD
YDLFKQSYWN HRELMRGEEG RPGKKLKKVK LRKLERPPET PTVDPTVKYE RQPEYLDATG
GTLHPYQMEG LNWLRFSWAQ GTDTILADEM GLGKTVQTAV FLYSLYKEGH SKGPFLVSAP
LSTIINWERE FEMWAPDMYV VTYVGDKDSR AIIRENEFSF EDNAIRGGKK ASRMKKEASV
KFHVLLTSYE LITIDMAILG SIDWACLIVD EAHRLKNNQS KFFRVLNGYS LQHKLLLTGT
PLQNNLEELF HLLNFLTPER FHNLEGFLEE FADIAKEDQI KKLHDMLGPH MLRRLKADVF
KNMPSKTELI VRVELSPMQK KYYKYILTRN FEALNARGGG NQVSLLNVVM DLKKCCNHPY
LFPVAAMEAP KMPNGMYDGS ALIRASGKLL LLQKMLKNLK EGGHRVLIFS QMTKMLDLLE
DFLEHEGYKY ERIDGGITGN MRQEAIDRFN APGAQQFCFL LSTRAGGLGI NLATADTVII
YDSDWNPHND IQAFSRAHRI GQNKKVMIYR FVTRASVEER ITQVAKKKMM LTHLVVRPGL
GSKTGSMSKQ ELDDILKFGT EELFKDEATD GGGDNKEGED SSVIHYDDKA IERLLDRNQD
ETEDTELQGM NEYLSSFKVA QYVVREEEMG EEEEVEREII KQEESVDPDY WEKLLRHHYE
QQQEDLARNL GKGKRIRKQV NYNDGSQEDR GVCGRPRPPP MGRSTRAVGP AHLPSLPPDW
QDDQSDNQSD YSVASEEGDE DFDERSEAPR RPSRKGLRND KDKPLPPLLA RVGGNIEVLG
FNARQRKAFL NAIMRYGMPP QDAFTTQWLV RDLRGKSEKE FKAYVSLFMR HLCEPGADGA
ETFADGVPRE GLSRQHVLTR IGVMSLIRKK VQEFEHVNGR WSMPELAEVE ENKKMSQPGS
PSPKTPTPST PGDTQPNTPA PVPPAEDGIK IEENSLKEEE SIEGEKEVKS TAPETAIECT
QAPAPASEDE KVVVEPPEGE EKVEKAEVKE RTEEPMETEP KGAADVEKVE EKSAIDLTPI
VVEDKEEKKE EEEKKEVMLQ NGETPKDLND EKQKKNIKQR FMFNIADGGF TELHSLWQNE
ERAATVTKKT YEIWHRRHDY WLLAGIINHG YARWQDIQND PRYAILNEPF KGEMNRGNFL
EIKNKFLARR FKLLEQALVI EEQLRRAAYL NMSEDPSHPS MALNTRFAEV ECLAESHQHL
SKESMAGNKP ANAVLHKVLK QLEELLSDMK ADVTRLPATI ARIPPVAVRL QMSERNILSR
LANRAPEPTP QQVAQQQ*

speed

0.80 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: 0.999913376464669 (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)

chr12:6711147C>AN/A show variant in all transcripts IGV

HGNC symbol

CHD4

Ensembl transcript ID

ENST00000309577

Genbank transcript ID

N/A

UniProt peptide

Q14839

alteration type

single base exchange

alteration region

CDS

DNA changes

c.417G>T
cDNA.581G>T
g.5496G>T

AA changes

E139D Score: 45 explain score(s)

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

139

frameshift

known variant

Reference ID: rs1639122

database	homozygous (A/A)	heterozygous	allele carriers
1000G	890	990	1880
ExAC	8150	16467	24617

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.925	0.964
	-1.489	0.204
(flanking)	4.621	0.998

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

139

mutated

all conserved

139

Ptroglodytes

no homologue

Mmulatta

all conserved

ENSMMUG00000018685

139

Fcatus

all conserved

ENSFCAG00000006877

105

Mmusculus

all identical

ENSMUSG00000063870

139

Ggallus

all identical

ENSGALG00000013565

109

Trubripes

no homologue

Drerio

all identical

ENSDARG00000063535

123

Dmelanogaster

not conserved

FBgn0262519

137

Celegans

not conserved

T14G8.1

Xtropicalis

all conserved

ENSXETG00000018961

107

protein features

start (aa)	end (aa)	feature	details
139	144	COMPBIAS	Poly-Asp.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5823 / 5823

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

1941 / 1941

position of stopcodon in wt / mu cDNA

5987 / 5987

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

165 / 165

chromosome

strand

-1

last intron/exon boundary

5970

theoretical NMD boundary in CDS

5755

length of CDS

5823

coding sequence (CDS) position

417

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

581

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

5496

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

6711147

original gDNA sequence snippet

AAGGAGGAGGAGGAGGAGGAGGATGATGATGATGATTCAAA

altered gDNA sequence snippet

AAGGAGGAGGAGGAGGAGGATGATGATGATGATGATTCAAA

original cDNA sequence snippet

AAGGAGGAGGAGGAGGAGGAGGATGATGATGATGATTCAAA

altered cDNA sequence snippet

AAGGAGGAGGAGGAGGAGGATGATGATGATGATGATTCAAA

wildtype AA sequence

MASGLGSPSP CSAGSEEEDM DALLNNSLPP PHPENEEDPE EDLSETETPK LKKKKKPKKP
RDPKIPKSKR QKKERMLLCR QLGDSSGEGP EFVEEEEEVA LRSDSEGSDY TPGKKKKKKL
GPKKEKKSKS KRKEEEEEED DDDDSKEPKS SAQLLEDWGM EDIDHVFSEE DYRTLTNYKA
FSQFVRPLIA AKNPKIAVSK MMMVLGAKWR EFSTNNPFKG SSGASVAAAA AAAVAVVESM
VTATEVAPPP PPVEVPIRKA KTKEGKGPNA RRKPKGSPRV PDAKKPKPKK VAPLKIKLGG
FGSKRKRSSS EDDDLDVESD FDDASINSYS VSDGSTSRSS RSRKKLRTTK KKKKGEEEVT
AVDGYETDHQ DYCEVCQQGG EIILCDTCPR AYHMVCLDPD MEKAPEGKWS CPHCEKEGIQ
WEAKEDNSEG EEILEEVGGD LEEEDDHHME FCRVCKDGGE LLCCDTCPSS YHIHCLNPPL
PEIPNGEWLC PRCTCPALKG KVQKILIWKW GQPPSPTPVP RPPDADPNTP SPKPLEGRPE
RQFFVKWQGM SYWHCSWVSE LQLELHCQVM FRNYQRKNDM DEPPSGDFGG DEEKSRKRKN
KDPKFAEMEE RFYRYGIKPE WMMIHRILNH SVDKKGHVHY LIKWRDLPYD QASWESEDVE
IQDYDLFKQS YWNHRELMRG EEGRPGKKLK KVKLRKLERP PETPTVDPTV KYERQPEYLD
ATGGTLHPYQ MEGLNWLRFS WAQGTDTILA DEMGLGKTVQ TAVFLYSLYK EGHSKGPFLV
SAPLSTIINW EREFEMWAPD MYVVTYVGDK DSRAIIRENE FSFEDNAIRG GKKASRMKKE
ASVKFHVLLT SYELITIDMA ILGSIDWACL IVDEAHRLKN NQSKFFRVLN GYSLQHKLLL
TGTPLQNNLE ELFHLLNFLT PERFHNLEGF LEEFADIAKE DQIKKLHDML GPHMLRRLKA
DVFKNMPSKT ELIVRVELSP MQKKYYKYIL TRNFEALNAR GGGNQVSLLN VVMDLKKCCN
HPYLFPVAAM EAPKMPNGMY DGSALIRASG KLLLLQKMLK NLKEGGHRVL IFSQMTKMLD
LLEDFLEHEG YKYERIDGGI TGNMRQEAID RFNAPGAQQF CFLLSTRAGG LGINLATADT
VIIYDSDWNP HNDIQAFSRA HRIGQNKKVM IYRFVTRASV EERITQVAKK KMMLTHLVVR
PGLGSKTGSM SKQELDDILK FGTEELFKDE ATDGGGDNKE GEDSSVIHYD DKAIERLLDR
NQDETEDTEL QGMNEYLSSF KVAQYVVREE EMGEEEEVER EIIKQEESVD PDYWEKLLRH
HYEQQQEDLA RNLGKGKRIR KQVNYNDGSQ EDRGVCGRPR PPPMGRSTRA VGPAHLPSLP
PDWQDDQSDN QSDYSVASEE GDEDFDERSE APRRPSRKGL RNDKDKPLPP LLARVGGNIE
VLGFNARQRK AFLNAIMRYG MPPQDAFTTQ WLVRDLRGKS EKEFKAYVSL FMRHLCEPGA
DGAETFADGV PREGLSRQHV LTRIGVMSLI RKKVQEFEHV NGRWSMPELA EVEENKKMSQ
PGSPSPKTPT PSTPGDTQPN TPAPVPPAED GIKIEENSLK EEESIEGEKE VKSTAPETAI
ECTQAPAPAS EDEKVVVEPP EGEEKVEKAE VKERTEEPME TEPKGAADVE KVEEKSAIDL
TPIVVEDKEE KKEEEEKKEV MLQNGETPKD LNDEKQKKNI KQRFMFNIAD GGFTELHSLW
QNEERAATVT KKTYEIWHRR HDYWLLAGII NHGYARWQDI QNDPRYAILN EPFKGEMNRG
NFLEIKNKFL ARRFKLLEQA LVIEEQLRRA AYLNMSEDPS HPSMALNTRF AEVECLAESH
QHLSKESMAG NKPANAVLHK VLKQLEELLS DMKADVTRLP ATIARIPPVA VRLQMSERNI
LSRLANRAPE PTPQQVAQQQ *

mutated AA sequence

MASGLGSPSP CSAGSEEEDM DALLNNSLPP PHPENEEDPE EDLSETETPK LKKKKKPKKP
RDPKIPKSKR QKKERMLLCR QLGDSSGEGP EFVEEEEEVA LRSDSEGSDY TPGKKKKKKL
GPKKEKKSKS KRKEEEEEDD DDDDSKEPKS SAQLLEDWGM EDIDHVFSEE DYRTLTNYKA
FSQFVRPLIA AKNPKIAVSK MMMVLGAKWR EFSTNNPFKG SSGASVAAAA AAAVAVVESM
VTATEVAPPP PPVEVPIRKA KTKEGKGPNA RRKPKGSPRV PDAKKPKPKK VAPLKIKLGG
FGSKRKRSSS EDDDLDVESD FDDASINSYS VSDGSTSRSS RSRKKLRTTK KKKKGEEEVT
AVDGYETDHQ DYCEVCQQGG EIILCDTCPR AYHMVCLDPD MEKAPEGKWS CPHCEKEGIQ
WEAKEDNSEG EEILEEVGGD LEEEDDHHME FCRVCKDGGE LLCCDTCPSS YHIHCLNPPL
PEIPNGEWLC PRCTCPALKG KVQKILIWKW GQPPSPTPVP RPPDADPNTP SPKPLEGRPE
RQFFVKWQGM SYWHCSWVSE LQLELHCQVM FRNYQRKNDM DEPPSGDFGG DEEKSRKRKN
KDPKFAEMEE RFYRYGIKPE WMMIHRILNH SVDKKGHVHY LIKWRDLPYD QASWESEDVE
IQDYDLFKQS YWNHRELMRG EEGRPGKKLK KVKLRKLERP PETPTVDPTV KYERQPEYLD
ATGGTLHPYQ MEGLNWLRFS WAQGTDTILA DEMGLGKTVQ TAVFLYSLYK EGHSKGPFLV
SAPLSTIINW EREFEMWAPD MYVVTYVGDK DSRAIIRENE FSFEDNAIRG GKKASRMKKE
ASVKFHVLLT SYELITIDMA ILGSIDWACL IVDEAHRLKN NQSKFFRVLN GYSLQHKLLL
TGTPLQNNLE ELFHLLNFLT PERFHNLEGF LEEFADIAKE DQIKKLHDML GPHMLRRLKA
DVFKNMPSKT ELIVRVELSP MQKKYYKYIL TRNFEALNAR GGGNQVSLLN VVMDLKKCCN
HPYLFPVAAM EAPKMPNGMY DGSALIRASG KLLLLQKMLK NLKEGGHRVL IFSQMTKMLD
LLEDFLEHEG YKYERIDGGI TGNMRQEAID RFNAPGAQQF CFLLSTRAGG LGINLATADT
VIIYDSDWNP HNDIQAFSRA HRIGQNKKVM IYRFVTRASV EERITQVAKK KMMLTHLVVR
PGLGSKTGSM SKQELDDILK FGTEELFKDE ATDGGGDNKE GEDSSVIHYD DKAIERLLDR
NQDETEDTEL QGMNEYLSSF KVAQYVVREE EMGEEEEVER EIIKQEESVD PDYWEKLLRH
HYEQQQEDLA RNLGKGKRIR KQVNYNDGSQ EDRGVCGRPR PPPMGRSTRA VGPAHLPSLP
PDWQDDQSDN QSDYSVASEE GDEDFDERSE APRRPSRKGL RNDKDKPLPP LLARVGGNIE
VLGFNARQRK AFLNAIMRYG MPPQDAFTTQ WLVRDLRGKS EKEFKAYVSL FMRHLCEPGA
DGAETFADGV PREGLSRQHV LTRIGVMSLI RKKVQEFEHV NGRWSMPELA EVEENKKMSQ
PGSPSPKTPT PSTPGDTQPN TPAPVPPAED GIKIEENSLK EEESIEGEKE VKSTAPETAI
ECTQAPAPAS EDEKVVVEPP EGEEKVEKAE VKERTEEPME TEPKGAADVE KVEEKSAIDL
TPIVVEDKEE KKEEEEKKEV MLQNGETPKD LNDEKQKKNI KQRFMFNIAD GGFTELHSLW
QNEERAATVT KKTYEIWHRR HDYWLLAGII NHGYARWQDI QNDPRYAILN EPFKGEMNRG
NFLEIKNKFL ARRFKLLEQA LVIEEQLRRA AYLNMSEDPS HPSMALNTRF AEVECLAESH
QHLSKESMAG NKPANAVLHK VLKQLEELLS DMKADVTRLP ATIARIPPVA VRLQMSERNI
LSRLANRAPE PTPQQVAQQQ *

speed

0.86 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999913376464669 (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)

chr12:6711147C>AN/A show variant in all transcripts IGV

HGNC symbol

CHD4

Ensembl transcript ID

ENST00000357008

Genbank transcript ID

NM_001273

UniProt peptide

Q14839

alteration type

single base exchange

alteration region

CDS

DNA changes

c.417G>T
cDNA.581G>T
g.5496G>T

AA changes

E139D Score: 45 explain score(s)

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

139

frameshift

known variant

Reference ID: rs1639122

database	homozygous (A/A)	heterozygous	allele carriers
1000G	890	990	1880
ExAC	8150	16467	24617

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.925	0.964
	-1.489	0.204
(flanking)	4.621	0.998

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

139

mutated

all conserved

139

Ptroglodytes

no homologue

Mmulatta

all conserved

ENSMMUG00000018685

139

Fcatus

all conserved

ENSFCAG00000006877

105

Mmusculus

all identical

ENSMUSG00000063870

139

Ggallus

all identical

ENSGALG00000013565

109

Trubripes

no homologue

Drerio

all identical

ENSDARG00000063535

123

Dmelanogaster

not conserved

FBgn0262519

137

Celegans

not conserved

T14G8.1

Xtropicalis

all conserved

ENSXETG00000018961

107

protein features

start (aa)	end (aa)	feature	details
139	144	COMPBIAS	Poly-Asp.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5739 / 5739

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

1913 / 1913

position of stopcodon in wt / mu cDNA

5903 / 5903

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

165 / 165

chromosome

strand

-1

last intron/exon boundary

5886

theoretical NMD boundary in CDS

5671

length of CDS

5739

coding sequence (CDS) position

417

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

581

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

5496

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

6711147

original gDNA sequence snippet

AAGGAGGAGGAGGAGGAGGAGGATGATGATGATGATTCAAA

altered gDNA sequence snippet

AAGGAGGAGGAGGAGGAGGATGATGATGATGATGATTCAAA

original cDNA sequence snippet

AAGGAGGAGGAGGAGGAGGAGGATGATGATGATGATTCAAA

altered cDNA sequence snippet

AAGGAGGAGGAGGAGGAGGATGATGATGATGATGATTCAAA

wildtype AA sequence

MASGLGSPSP CSAGSEEEDM DALLNNSLPP PHPENEEDPE EDLSETETPK LKKKKKPKKP
RDPKIPKSKR QKKERMLLCR QLGDSSGEGP EFVEEEEEVA LRSDSEGSDY TPGKKKKKKL
GPKKEKKSKS KRKEEEEEED DDDDSKEPKS SAQLLEDWGM EDIDHVFSEE DYRTLTNYKA
FSQFVRPLIA AKNPKIAVSK MMMVLGAKWR EFSTNNPFKG SSGASVAAAA AAAVAVVESM
VTATEVAPPP PPVEVPIRKA KTKEGKGPNA RRKPKGSPRV PDAKKPKPKK VAPLKIKLGG
FGSKRKRSSS EDDDLDVESD FDDASINSYS VSDGSTSRSS RSRKKLRTTK KKKKGEEEVT
AVDGYETDHQ DYCEVCQQGG EIILCDTCPR AYHMVCLDPD MEKAPEGKWS CPHCEKEGIQ
WEAKEDNSEG EEILEEVGGD LEEEDDHHME FCRVCKDGGE LLCCDTCPSS YHIHCLNPPL
PEIPNGEWLC PRCTCPALKG KVQKILIWKW GQPPSPTPVP RPPDADPNTP SPKPLEGRPE
RQFFVKWQGM SYWHCSWVSE LQLELHCQVM FRNYQRKNDM DEPPSGDFGG DEEKSRKRKN
KDPKFAEMEE RFYRYGIKPE WMMIHRILNH SVDKKGHVHY LIKWRDLPYD QASWESEDVE
IQDYDLFKQS YWNHRELMRG EEGRPGKKLK KVKLRKLERP PETPTVDPTV KYERQPEYLD
ATGGTLHPYQ MEGLNWLRFS WAQGTDTILA DEMGLGKTVQ TAVFLYSLYK EGHSKGPFLV
SAPLSTIINW EREFEMWAPD MYVVTYVGDK DSRAIIRENE FSFEDNAIRG GKKASRMKKE
ASVKFHVLLT SYELITIDMA ILGSIDWACL IVDEAHRLKN NQSKFFRVLN GYSLQHKLLL
TGTPLQNNLE ELFHLLNFLT PERFHNLEGF LEEFADIAKE DQIKKLHDML GPHMLRRLKA
DVFKNMPSKT ELIVRVELSP MQKKYYKYIL TRNFEALNAR GGGNQVSLLN VVMDLKKCCN
HPYLFPVAAM EAPKMPNGMY DGSALIRASG KLLLLQKMLK NLKEGGHRVL IFSQMTKMLD
LLEDFLEHEG YKYERIDGGI TGNMRQEAID RFNAPGAQQF CFLLSTRAGG LGINLATADT
VIIYDSDWNP HNDIQAFSRA HRIGQNKKVM IYRFVTRASV EERITQVAKK KMMLTHLVVR
PGLGSKTGSM SKQELDDILK FGTEELFKDE ATDGGGDNKE GEDSSVIHYD DKAIERLLDR
NQDETEDTEL QGMNEYLSSF KVAQYVVREE EMGEEEEVER EIIKQEESVD PDYWEKLLRH
HYEQQQEDLA RNLGKGKRIR KQVNYNDGSQ EDRDWQDDQS DNQSDYSVAS EEGDEDFDER
SEAPRRPSRK GLRNDKDKPL PPLLARVGGN IEVLGFNARQ RKAFLNAIMR YGMPPQDAFT
TQWLVRDLRG KSEKEFKAYV SLFMRHLCEP GADGAETFAD GVPREGLSRQ HVLTRIGVMS
LIRKKVQEFE HVNGRWSMPE LAEVEENKKM SQPGSPSPKT PTPSTPGDTQ PNTPAPVPPA
EDGIKIEENS LKEEESIEGE KEVKSTAPET AIECTQAPAP ASEDEKVVVE PPEGEEKVEK
AEVKERTEEP METEPKGAAD VEKVEEKSAI DLTPIVVEDK EEKKEEEEKK EVMLQNGETP
KDLNDEKQKK NIKQRFMFNI ADGGFTELHS LWQNEERAAT VTKKTYEIWH RRHDYWLLAG
IINHGYARWQ DIQNDPRYAI LNEPFKGEMN RGNFLEIKNK FLARRFKLLE QALVIEEQLR
RAAYLNMSED PSHPSMALNT RFAEVECLAE SHQHLSKESM AGNKPANAVL HKVLKQLEEL
LSDMKADVTR LPATIARIPP VAVRLQMSER NILSRLANRA PEPTPQQVAQ QQ*

mutated AA sequence

MASGLGSPSP CSAGSEEEDM DALLNNSLPP PHPENEEDPE EDLSETETPK LKKKKKPKKP
RDPKIPKSKR QKKERMLLCR QLGDSSGEGP EFVEEEEEVA LRSDSEGSDY TPGKKKKKKL
GPKKEKKSKS KRKEEEEEDD DDDDSKEPKS SAQLLEDWGM EDIDHVFSEE DYRTLTNYKA
FSQFVRPLIA AKNPKIAVSK MMMVLGAKWR EFSTNNPFKG SSGASVAAAA AAAVAVVESM
VTATEVAPPP PPVEVPIRKA KTKEGKGPNA RRKPKGSPRV PDAKKPKPKK VAPLKIKLGG
FGSKRKRSSS EDDDLDVESD FDDASINSYS VSDGSTSRSS RSRKKLRTTK KKKKGEEEVT
AVDGYETDHQ DYCEVCQQGG EIILCDTCPR AYHMVCLDPD MEKAPEGKWS CPHCEKEGIQ
WEAKEDNSEG EEILEEVGGD LEEEDDHHME FCRVCKDGGE LLCCDTCPSS YHIHCLNPPL
PEIPNGEWLC PRCTCPALKG KVQKILIWKW GQPPSPTPVP RPPDADPNTP SPKPLEGRPE
RQFFVKWQGM SYWHCSWVSE LQLELHCQVM FRNYQRKNDM DEPPSGDFGG DEEKSRKRKN
KDPKFAEMEE RFYRYGIKPE WMMIHRILNH SVDKKGHVHY LIKWRDLPYD QASWESEDVE
IQDYDLFKQS YWNHRELMRG EEGRPGKKLK KVKLRKLERP PETPTVDPTV KYERQPEYLD
ATGGTLHPYQ MEGLNWLRFS WAQGTDTILA DEMGLGKTVQ TAVFLYSLYK EGHSKGPFLV
SAPLSTIINW EREFEMWAPD MYVVTYVGDK DSRAIIRENE FSFEDNAIRG GKKASRMKKE
ASVKFHVLLT SYELITIDMA ILGSIDWACL IVDEAHRLKN NQSKFFRVLN GYSLQHKLLL
TGTPLQNNLE ELFHLLNFLT PERFHNLEGF LEEFADIAKE DQIKKLHDML GPHMLRRLKA
DVFKNMPSKT ELIVRVELSP MQKKYYKYIL TRNFEALNAR GGGNQVSLLN VVMDLKKCCN
HPYLFPVAAM EAPKMPNGMY DGSALIRASG KLLLLQKMLK NLKEGGHRVL IFSQMTKMLD
LLEDFLEHEG YKYERIDGGI TGNMRQEAID RFNAPGAQQF CFLLSTRAGG LGINLATADT
VIIYDSDWNP HNDIQAFSRA HRIGQNKKVM IYRFVTRASV EERITQVAKK KMMLTHLVVR
PGLGSKTGSM SKQELDDILK FGTEELFKDE ATDGGGDNKE GEDSSVIHYD DKAIERLLDR
NQDETEDTEL QGMNEYLSSF KVAQYVVREE EMGEEEEVER EIIKQEESVD PDYWEKLLRH
HYEQQQEDLA RNLGKGKRIR KQVNYNDGSQ EDRDWQDDQS DNQSDYSVAS EEGDEDFDER
SEAPRRPSRK GLRNDKDKPL PPLLARVGGN IEVLGFNARQ RKAFLNAIMR YGMPPQDAFT
TQWLVRDLRG KSEKEFKAYV SLFMRHLCEP GADGAETFAD GVPREGLSRQ HVLTRIGVMS
LIRKKVQEFE HVNGRWSMPE LAEVEENKKM SQPGSPSPKT PTPSTPGDTQ PNTPAPVPPA
EDGIKIEENS LKEEESIEGE KEVKSTAPET AIECTQAPAP ASEDEKVVVE PPEGEEKVEK
AEVKERTEEP METEPKGAAD VEKVEEKSAI DLTPIVVEDK EEKKEEEEKK EVMLQNGETP
KDLNDEKQKK NIKQRFMFNI ADGGFTELHS LWQNEERAAT VTKKTYEIWH RRHDYWLLAG
IINHGYARWQ DIQNDPRYAI LNEPFKGEMN RGNFLEIKNK FLARRFKLLE QALVIEEQLR
RAAYLNMSED PSHPSMALNT RFAEVECLAE SHQHLSKESM AGNKPANAVL HKVLKQLEEL
LSDMKADVTR LPATIARIPP VAVRLQMSER NILSRLANRA PEPTPQQVAQ QQ*

speed

0.80 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999652757322094 (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)

chr12:6711147C>AN/A show variant in all transcripts IGV

HGNC symbol

CHD4

Ensembl transcript ID

ENST00000544040

Genbank transcript ID

N/A

UniProt peptide

Q14839

alteration type

single base exchange

alteration region

CDS

DNA changes

c.396G>T
cDNA.599G>T
g.5496G>T

AA changes

E132D Score: 45 explain score(s)

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

132

frameshift

known variant

Reference ID: rs1639122

database	homozygous (A/A)	heterozygous	allele carriers
1000G	890	990	1880
ExAC	8150	16467	24617

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.925	0.964
	-1.489	0.204
(flanking)	4.621	0.998

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

132

mutated

all conserved

132

Ptroglodytes

no homologue

Mmulatta

all conserved

ENSMMUG00000018685

139

Fcatus

all conserved

ENSFCAG00000006877

105

Mmusculus

all identical

ENSMUSG00000063870

139

Ggallus

all identical

ENSGALG00000013565

109

Trubripes

no homologue

Drerio

all identical

ENSDARG00000063535

128

Dmelanogaster

not conserved

FBgn0262519

133

Celegans

not conserved

T14G8.1

Xtropicalis

all conserved

ENSXETG00000018961

107

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5718 / 5718

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

1906 / 1906

position of stopcodon in wt / mu cDNA

5921 / 5921

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

204 / 204

chromosome

strand

-1

last intron/exon boundary

5904

theoretical NMD boundary in CDS

5650

length of CDS

5718

coding sequence (CDS) position

396

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

599

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

5496

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

6711147

original gDNA sequence snippet

AAGGAGGAGGAGGAGGAGGAGGATGATGATGATGATTCAAA

altered gDNA sequence snippet

AAGGAGGAGGAGGAGGAGGATGATGATGATGATGATTCAAA

original cDNA sequence snippet

AAGGAGGAGGAGGAGGAGGAGGATGATGATGATGATTCAAA

altered cDNA sequence snippet

AAGGAGGAGGAGGAGGAGGATGATGATGATGATGATTCAAA

wildtype AA sequence

MASGLGSPSP CSAGSEEEDM DALLNNSLPP PHPENEEDPE EDLSETETPK LKKKKKPKKP
RDPKIPKSKR QKKELGDSSG EGPEFVEEEE EVALRSDSEG SDYTPGKKKK KKLGPKKEKK
SKSKRKEEEE EEDDDDDSKE PKSSAQLLED WGMEDIDHVF SEEDYRTLTN YKAFSQFVRP
LIAAKNPKIA VSKMMMVLGA KWREFSTNNP FKGSSGASVA AAAAAAVAVV ESMVTATEVA
PPPPPVEVPI RKAKTKEGKG PNARRKPKGS PRVPDAKKPK PKKVAPLKIK LGGFGSKRKR
SSSEDDDLDV ESDFDDASIN SYSVSDGSTS RSSRSRKKLR TTKKKKKGEE EVTAVDGYET
DHQDYCEVCQ QGGEIILCDT CPRAYHMVCL DPDMEKAPEG KWSCPHCEKE GIQWEAKEDN
SEGEEILEEV GGDLEEEDDH HMEFCRVCKD GGELLCCDTC PSSYHIHCLN PPLPEIPNGE
WLCPRCTCPA LKGKVQKILI WKWGQPPSPT PVPRPPDADP NTPSPKPLEG RPERQFFVKW
QGMSYWHCSW VSELQLELHC QVMFRNYQRK NDMDEPPSGD FGGDEEKSRK RKNKDPKFAE
MEERFYRYGI KPEWMMIHRI LNHSVDKKGH VHYLIKWRDL PYDQASWESE DVEIQDYDLF
KQSYWNHREL MRGEEGRPGK KLKKVKLRKL ERPPETPTVD PTVKYERQPE YLDATGGTLH
PYQMEGLNWL RFSWAQGTDT ILADEMGLGK TVQTAVFLYS LYKEGHSKGP FLVSAPLSTI
INWEREFEMW APDMYVVTYV GDKDSRAIIR ENEFSFEDNA IRGGKKASRM KKEASVKFHV
LLTSYELITI DMAILGSIDW ACLIVDEAHR LKNNQSKFFR VLNGYSLQHK LLLTGTPLQN
NLEELFHLLN FLTPERFHNL EGFLEEFADI AKEDQIKKLH DMLGPHMLRR LKADVFKNMP
SKTELIVRVE LSPMQKKYYK YILTRNFEAL NARGGGNQVS LLNVVMDLKK CCNHPYLFPV
AAMEAPKMPN GMYDGSALIR ASGKLLLLQK MLKNLKEGGH RVLIFSQMTK MLDLLEDFLE
HEGYKYERID GGITGNMRQE AIDRFNAPGA QQFCFLLSTR AGGLGINLAT ADTVIIYDSD
WNPHNDIQAF SRAHRIGQNK KVMIYRFVTR ASVEERITQV AKKKMMLTHL VVRPGLGSKT
GSMSKQELDD ILKFGTEELF KDEATDGGGD NKEGEDSSVI HYDDKAIERL LDRNQDETED
TELQGMNEYL SSFKVAQYVV REEEMGEEEE VEREIIKQEE SVDPDYWEKL LRHHYEQQQE
DLARNLGKGK RIRKQVNYND GSQEDRDWQD DQSDNQSDYS VASEEGDEDF DERSEAPRRP
SRKGLRNDKD KPLPPLLARV GGNIEVLGFN ARQRKAFLNA IMRYGMPPQD AFTTQWLVRD
LRGKSEKEFK AYVSLFMRHL CEPGADGAET FADGVPREGL SRQHVLTRIG VMSLIRKKVQ
EFEHVNGRWS MPELAEVEEN KKMSQPGSPS PKTPTPSTPG DTQPNTPAPV PPAEDGIKIE
ENSLKEEESI EGEKEVKSTA PETAIECTQA PAPASEDEKV VVEPPEGEEK VEKAEVKERT
EEPMETEPKG AADVEKVEEK SAIDLTPIVV EDKEEKKEEE EKKEVMLQNG ETPKDLNDEK
QKKNIKQRFM FNIADGGFTE LHSLWQNEER AATVTKKTYE IWHRRHDYWL LAGIINHGYA
RWQDIQNDPR YAILNEPFKG EMNRGNFLEI KNKFLARRFK LLEQALVIEE QLRRAAYLNM
SEDPSHPSMA LNTRFAEVEC LAESHQHLSK ESMAGNKPAN AVLHKVLKQL EELLSDMKAD
VTRLPATIAR IPPVAVRLQM SERNILSRLA NRAPEPTPQQ VAQQQ*

mutated AA sequence

MASGLGSPSP CSAGSEEEDM DALLNNSLPP PHPENEEDPE EDLSETETPK LKKKKKPKKP
RDPKIPKSKR QKKELGDSSG EGPEFVEEEE EVALRSDSEG SDYTPGKKKK KKLGPKKEKK
SKSKRKEEEE EDDDDDDSKE PKSSAQLLED WGMEDIDHVF SEEDYRTLTN YKAFSQFVRP
LIAAKNPKIA VSKMMMVLGA KWREFSTNNP FKGSSGASVA AAAAAAVAVV ESMVTATEVA
PPPPPVEVPI RKAKTKEGKG PNARRKPKGS PRVPDAKKPK PKKVAPLKIK LGGFGSKRKR
SSSEDDDLDV ESDFDDASIN SYSVSDGSTS RSSRSRKKLR TTKKKKKGEE EVTAVDGYET
DHQDYCEVCQ QGGEIILCDT CPRAYHMVCL DPDMEKAPEG KWSCPHCEKE GIQWEAKEDN
SEGEEILEEV GGDLEEEDDH HMEFCRVCKD GGELLCCDTC PSSYHIHCLN PPLPEIPNGE
WLCPRCTCPA LKGKVQKILI WKWGQPPSPT PVPRPPDADP NTPSPKPLEG RPERQFFVKW
QGMSYWHCSW VSELQLELHC QVMFRNYQRK NDMDEPPSGD FGGDEEKSRK RKNKDPKFAE
MEERFYRYGI KPEWMMIHRI LNHSVDKKGH VHYLIKWRDL PYDQASWESE DVEIQDYDLF
KQSYWNHREL MRGEEGRPGK KLKKVKLRKL ERPPETPTVD PTVKYERQPE YLDATGGTLH
PYQMEGLNWL RFSWAQGTDT ILADEMGLGK TVQTAVFLYS LYKEGHSKGP FLVSAPLSTI
INWEREFEMW APDMYVVTYV GDKDSRAIIR ENEFSFEDNA IRGGKKASRM KKEASVKFHV
LLTSYELITI DMAILGSIDW ACLIVDEAHR LKNNQSKFFR VLNGYSLQHK LLLTGTPLQN
NLEELFHLLN FLTPERFHNL EGFLEEFADI AKEDQIKKLH DMLGPHMLRR LKADVFKNMP
SKTELIVRVE LSPMQKKYYK YILTRNFEAL NARGGGNQVS LLNVVMDLKK CCNHPYLFPV
AAMEAPKMPN GMYDGSALIR ASGKLLLLQK MLKNLKEGGH RVLIFSQMTK MLDLLEDFLE
HEGYKYERID GGITGNMRQE AIDRFNAPGA QQFCFLLSTR AGGLGINLAT ADTVIIYDSD
WNPHNDIQAF SRAHRIGQNK KVMIYRFVTR ASVEERITQV AKKKMMLTHL VVRPGLGSKT
GSMSKQELDD ILKFGTEELF KDEATDGGGD NKEGEDSSVI HYDDKAIERL LDRNQDETED
TELQGMNEYL SSFKVAQYVV REEEMGEEEE VEREIIKQEE SVDPDYWEKL LRHHYEQQQE
DLARNLGKGK RIRKQVNYND GSQEDRDWQD DQSDNQSDYS VASEEGDEDF DERSEAPRRP
SRKGLRNDKD KPLPPLLARV GGNIEVLGFN ARQRKAFLNA IMRYGMPPQD AFTTQWLVRD
LRGKSEKEFK AYVSLFMRHL CEPGADGAET FADGVPREGL SRQHVLTRIG VMSLIRKKVQ
EFEHVNGRWS MPELAEVEEN KKMSQPGSPS PKTPTPSTPG DTQPNTPAPV PPAEDGIKIE
ENSLKEEESI EGEKEVKSTA PETAIECTQA PAPASEDEKV VVEPPEGEEK VEKAEVKERT
EEPMETEPKG AADVEKVEEK SAIDLTPIVV EDKEEKKEEE EKKEVMLQNG ETPKDLNDEK
QKKNIKQRFM FNIADGGFTE LHSLWQNEER AATVTKKTYE IWHRRHDYWL LAGIINHGYA
RWQDIQNDPR YAILNEPFKG EMNRGNFLEI KNKFLARRFK LLEQALVIEE QLRRAAYLNM
SEDPSHPSMA LNTRFAEVEC LAESHQHLSK ESMAGNKPAN AVLHKVLKQL EELLSDMKAD
VTRLPATIAR IPPVAVRLQM SERNILSRLA NRAPEPTPQQ VAQQQ*

speed

0.62 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

Problems