Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
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: ENST00000566029
Querying Taster for transcript #2: ENST00000564845
Querying Taster for transcript #3: ENST00000398510
Querying Taster for transcript #4: ENST00000447540
MT speed 0 s - this script 4.809807 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
CHD9polymorphism_automatic0.993482320254155simple_aaeaffectedT2760Asingle base exchangers3743771show file
CHD9polymorphism_automatic0.993482320254155simple_aaeaffectedT2760Asingle base exchangers3743771show file
CHD9polymorphism_automatic0.993482320254155simple_aaeaffectedT2776Asingle base exchangers3743771show file
CHD9polymorphism_automatic0.993482320254155simple_aaeaffectedT2761Asingle base exchangers3743771show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.00651767974584477 (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) chr16:53358439A>GN/A show variant in all transcripts   IGV
HGNC symbol CHD9
Ensembl transcript ID ENST00000566029
Genbank transcript ID NM_025134
UniProt peptide Q3L8U1
alteration type single base exchange
alteration region CDS
DNA changes c.8278A>G
cDNA.8487A>G
g.269495A>G
AA changes T2760A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 2760
frameshift no
known variant Reference ID: rs3743771
databasehomozygous (G/G)heterozygousallele carriers
1000G128799927
ExAC41712250626677
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2450.964
1.4370.995
(flanking)5.7330.999
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased269501wt: 0.3976 / mu: 0.4431 (marginal change - not scored)wt: CAAGTTCTCCTTCCACATCCTCTACTGCTGCATTAAATACA
mu: CAAGTTCTCCTTCCGCATCCTCTACTGCTGCATTAAATACA		 tcct|CTAC
Acc marginally increased269503wt: 0.9260 / mu: 0.9266 (marginal change - not scored)wt: AGTTCTCCTTCCACATCCTCTACTGCTGCATTAAATACAGC
mu: AGTTCTCCTTCCGCATCCTCTACTGCTGCATTAAATACAGC		 ctct|ACTG
Acc increased269494wt: 0.79 / mu: 0.91wt: TCTGTGTCAAGTTCTCCTTCCACATCCTCTACTGCTGCATT
mu: TCTGTGTCAAGTTCTCCTTCCGCATCCTCTACTGCTGCATT		 ttcc|ACAT
Acc increased269505wt: 0.44 / mu: 0.62wt: TTCTCCTTCCACATCCTCTACTGCTGCATTAAATACAGCTG
mu: TTCTCCTTCCGCATCCTCTACTGCTGCATTAAATACAGCTG		 ctac|TGCT
distance from splice site 508
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      2760GGENSVSSSPSTSSTAALNTAAAA
mutated  not conserved    2760GGENSVSSSPSASSTAALNTAAA
Ptroglodytes  all identical  ENSPTRG00000008113  2761TSSTAALNTAAA
Mmulatta  all identical  ENSMMUG00000016310  2776GGENSVSSSPSTSSTAALNTAAA
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000056608  2765GGERCVPGSPSTSSTAALSSAAA
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000009125  2303--TSSSSSSSATPSSAS
Drerio  not conserved  ENSDARG00000074498  2841TTSNQTSAS------------AS
Dmelanogaster  no alignment  FBgn0086902  n/a
Celegans  no alignment  T04D1.4  n/a
Xtropicalis  all identical  ENSXETG00000000349  2759ANQN--TSPPSTST----GMAVT
protein features
start (aa)end (aa)featuredetails 
27592759CONFLICTS -> N (in Ref. 3; AAT66509).might get lost (downstream of altered splice site)
27762776CONFLICTT -> A (in Ref. 1; AAQ24287 and 6; BAA20767).might get lost (downstream of altered splice site)
27852788COMPBIASPoly-Ala.might get lost (downstream of altered splice site)
27932798MOTIFLXXLL motif 5.might get lost (downstream of altered splice site)
28782888COMPBIASPoly-Ser.might get lost (downstream of altered splice site)
28792879MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
28832883MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
28912891MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 8646 / 8646
position (AA) of stopcodon in wt / mu AA sequence 2882 / 2882
position of stopcodon in wt / mu cDNA 8855 / 8855
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 210 / 210
chromosome 16
strand 1
last intron/exon boundary 7980
theoretical NMD boundary in CDS 7720
length of CDS 8646
coding sequence (CDS) position 8278
cDNA position
(for ins/del: last normal base / first normal base)		 8487
gDNA position
(for ins/del: last normal base / first normal base)		 269495
chromosomal position
(for ins/del: last normal base / first normal base)		 53358439
original gDNA sequence snippet CTGTGTCAAGTTCTCCTTCCACATCCTCTACTGCTGCATTA
altered gDNA sequence snippet CTGTGTCAAGTTCTCCTTCCGCATCCTCTACTGCTGCATTA
original cDNA sequence snippet CTGTGTCAAGTTCTCCTTCCACATCCTCTACTGCTGCATTA
altered cDNA sequence snippet CTGTGTCAAGTTCTCCTTCCGCATCCTCTACTGCTGCATTA
wildtype AA sequence MTDPMMDFFD DANLFGETLE GLSDDAFVQP GPVSLVDELN LGAEFEPLHI DSLNHVQGTP
THQKMTDFEQ LNQFDSIKFH HVNQSFGSPA EHVLSPHSQF NCSPIHPQNQ PNGLFPDVSD
GSPMWGHQTA TTISNQNGSP FHQQGHSHSM HQNKSFVAHH DFALFQANEQ QTQCTSLRSQ
QNRNNLNPGQ NSLSQSKNFM NVSGPHRVNV NHPPQMTNAS NSQQSISMQQ FSQTSNPSAH
FHKCSSHQEG NFNGPSPNMT SCSVSNSQQF SSHYSFSSNH ISPNSLLQSS AVLASNHTNQ
TLSDFTGSNS FSPHRGIKQE STQHILNPNT SLNSNNFQIL HSSHPQGNYS NSKLSPVHMN
FPDPVDSGTQ MGHFNDHVET NGFSSLEENL LHQVESQTEP FTGLDPEDLL QEGLLPHFDE
STFGQDNSSH ILDHDLDRQF TSHLVTRPSD MAQTQLQSQA RSWHSSFSNH QHLHDRNHLC
LQRQPPSSKK SDGSGTYTKL QNTQVRVMSE KKQRKKVESE SKQEKANRII SEAIAKAKER
GERNIPRVMS PENFPTASVE GKEEKKGRRM KSKPKDKDSK KTKTCSKLKE KTKIGKLIIT
LGKKQKRKNE SSDEISDAEQ MPQHTLKDQD SQKRRSNRQI KRKKYAEDIE GKQSEEEVKG
SMKIKKNSAP LPGEQPLQLF VENPSEEDAA IVDKILSSRT VKKEISPGVM IDTEEFFVKY
KNYSYLHCEW ATEEQLLKDK RIQQKIKRFK LRQAQRAHFF ADMEEEPFNP DYVEVDRVLE
VSFCEDKDTG EPVIYYLVKW CSLPYEDSTW ELKEDVDLAK IEEFEQLQAS RPDTRRLDRP
PSNIWKKIDQ SRDYKNGNQL REYQLEGLNW LLFNWYNRRN CILADEMGLG KTIQSITFLY
EILLTGIRGP FLIIAPLSTI ANWEREFRTW TDINVVVYHG SLISRQMIQQ YEMYFRDSQG
RIIRGAYRFQ AIITTFEMIL GGCGELNAIE WRCVIIDEAH RLKNKNCKLL EGLKLMNLEH
KVLLTGTPLQ NTVEELFSLL HFLEPLRFPS ESTFMQEFGD LKTEEQVQKL QAILKPMMLR
RLKEDVEKKL APKEETIIEV ELTNIQKKYY RAILEKNFSF LSKGAGQTNV PNLVNTMMEL
RKCCNHPYLI KGAEEKILGE FRDTYNPAAS DFHLQAMIQS AGKLVLIDKL LPKMKAGGHK
VLIFSQMVRC LDILEDYLIH KRYLYERIDG RVRGNLRQAA IDRFSKPDSD RFVFLLCTRA
GGLGINLTAA DTCIIFDSDW NPQNDLQAQA RCHRIGQNKA VKVYRLVTRN SYEREMFDRA
SLKLGLDKAV LQSMSGRESN VGGIQQLSKK EIEDLLRRGA YGAIMEEEDE GSKFCEEDID
QILLRRTKTI TIESEGRGST FAKASFVASG NRTDISLDDP NFWQKWAKKA EIDIEAISGR
NSLVIDTPRI RKQTRPFSAT KDELAELSEA ESEGDEKPKL RRPCDRSNGY GRTECFRVEK
NLLVYGWGRW REILSHGRFK RQLNEHDVEI ICRALLAYCL VHYRGDEKIK GFIWDLITPT
EDGQTRELQN HLGLSAPVPR GRKGKKVKTQ TSSFDIQKAE WLRKYNPEQL LQDEGYKKHI
KHHCNKVLLR VRMLYYLKQE VIGNECQKVF DGVDASDIDV WVPEPDHSEV PAEWWDFDAD
KSLLIGVFKH GYEKYNTIRA DPALCFLERV GKPDEKAVAA EQRANDYMDG DVEDPEYKPA
PAIFKDDIED DVSSPGDLVI ADGDGQLMEG DKVYWPTQSA LTTRLRRLIT AYQRTNKNRQ
IQQIQPTFSV PTSVMQPIYE EATLNPKMAA KIERQQRWTR REEADFYRVV STFGVVFDPD
RGQFDWTKFR AMARLHKKTD DSLEKYLYAF MSMCRRVCRL PSKEELVDPN IFIQPITEER
ASRTLYRIEL LRKVREQALR HPQLFERLKL CHPNPDLPVW WECGPHDRDL LIGAAKHGVS
RTDYHILRDP ELSFMAAQRN YSQSKMAHSR TSTPLLQQYQ VALSASPLTS LPRLLDAKGI
ILEEMKVKSE NLKEEPQSSE EESMSSVETR TLIKSEPVSP KNGVLPQATG DQKSGGKCET
DRRMVAARTE PLTPNPASKK PRVHKRGSES SSDSDSDSER SSCSSRSSSS SSSSSCSHSR
SGSSSSSSSS CSSASSSSSS STSSSSSSSS SSSEESDSDE EEAQKRESTT HMKAYDEESV
ASLSTTQDET QDSFQMNNGT PESAYILQGG YMLAASYWPK DRVMINRLDS ICQTVLKGKW
PSARRSYDAN TVASFYTTKL LDSPGAATEY SDPSVPTPPG AGVKEEHDQS TQMSKEGGLK
LTFQKQGLAQ KRPFDGEDGA LGQQQYLTRL RELQSASETS LVNFPKSIPV SGTSIQPTLG
ANGVILDNQP IVKKRRGRRK NVEGVDIFFF NRNKPPNHVS LGLTSSQIST GINPALSYTQ
PQGIPDTESP VPVINLKDGT RLAGDDAPKR KDLEKWLKEH PGYVEDLGAF IPRMQLHEGR
PKQKRHRCRN PNKLDVNSLT GEERVQLINR RNARKVGGAF APPLKDLCRF LKENSEYGVA
PEWGDVVKQS GFLPESMYER ILTGPVVREE VSRRGRRPKS GIAKATAAAA AASATSVSGN
PLLANGLLPG VDLTTLQALQ QNLQNLQSLQ VTAGLMGMPT GLPSGGEAKN MAAMFPMLLS
GMAGLPNLLG MGGLLTKPTE SGTEDKKGSD SKESEGKTER TESQSSENGG ENSVSSSPST
SSTAALNTAA AANPLALNPL LLSNILYPGM LLTPGLNLHI PTLSQSNTFD VQNKNSDLGS
SKSVEVKEED SRIKDQEDKG GTEPSPLNEN STDEGSEKAD ASSGSDSTSS SSEDSDSSNE
D*
mutated AA sequence MTDPMMDFFD DANLFGETLE GLSDDAFVQP GPVSLVDELN LGAEFEPLHI DSLNHVQGTP
THQKMTDFEQ LNQFDSIKFH HVNQSFGSPA EHVLSPHSQF NCSPIHPQNQ PNGLFPDVSD
GSPMWGHQTA TTISNQNGSP FHQQGHSHSM HQNKSFVAHH DFALFQANEQ QTQCTSLRSQ
QNRNNLNPGQ NSLSQSKNFM NVSGPHRVNV NHPPQMTNAS NSQQSISMQQ FSQTSNPSAH
FHKCSSHQEG NFNGPSPNMT SCSVSNSQQF SSHYSFSSNH ISPNSLLQSS AVLASNHTNQ
TLSDFTGSNS FSPHRGIKQE STQHILNPNT SLNSNNFQIL HSSHPQGNYS NSKLSPVHMN
FPDPVDSGTQ MGHFNDHVET NGFSSLEENL LHQVESQTEP FTGLDPEDLL QEGLLPHFDE
STFGQDNSSH ILDHDLDRQF TSHLVTRPSD MAQTQLQSQA RSWHSSFSNH QHLHDRNHLC
LQRQPPSSKK SDGSGTYTKL QNTQVRVMSE KKQRKKVESE SKQEKANRII SEAIAKAKER
GERNIPRVMS PENFPTASVE GKEEKKGRRM KSKPKDKDSK KTKTCSKLKE KTKIGKLIIT
LGKKQKRKNE SSDEISDAEQ MPQHTLKDQD SQKRRSNRQI KRKKYAEDIE GKQSEEEVKG
SMKIKKNSAP LPGEQPLQLF VENPSEEDAA IVDKILSSRT VKKEISPGVM IDTEEFFVKY
KNYSYLHCEW ATEEQLLKDK RIQQKIKRFK LRQAQRAHFF ADMEEEPFNP DYVEVDRVLE
VSFCEDKDTG EPVIYYLVKW CSLPYEDSTW ELKEDVDLAK IEEFEQLQAS RPDTRRLDRP
PSNIWKKIDQ SRDYKNGNQL REYQLEGLNW LLFNWYNRRN CILADEMGLG KTIQSITFLY
EILLTGIRGP FLIIAPLSTI ANWEREFRTW TDINVVVYHG SLISRQMIQQ YEMYFRDSQG
RIIRGAYRFQ AIITTFEMIL GGCGELNAIE WRCVIIDEAH RLKNKNCKLL EGLKLMNLEH
KVLLTGTPLQ NTVEELFSLL HFLEPLRFPS ESTFMQEFGD LKTEEQVQKL QAILKPMMLR
RLKEDVEKKL APKEETIIEV ELTNIQKKYY RAILEKNFSF LSKGAGQTNV PNLVNTMMEL
RKCCNHPYLI KGAEEKILGE FRDTYNPAAS DFHLQAMIQS AGKLVLIDKL LPKMKAGGHK
VLIFSQMVRC LDILEDYLIH KRYLYERIDG RVRGNLRQAA IDRFSKPDSD RFVFLLCTRA
GGLGINLTAA DTCIIFDSDW NPQNDLQAQA RCHRIGQNKA VKVYRLVTRN SYEREMFDRA
SLKLGLDKAV LQSMSGRESN VGGIQQLSKK EIEDLLRRGA YGAIMEEEDE GSKFCEEDID
QILLRRTKTI TIESEGRGST FAKASFVASG NRTDISLDDP NFWQKWAKKA EIDIEAISGR
NSLVIDTPRI RKQTRPFSAT KDELAELSEA ESEGDEKPKL RRPCDRSNGY GRTECFRVEK
NLLVYGWGRW REILSHGRFK RQLNEHDVEI ICRALLAYCL VHYRGDEKIK GFIWDLITPT
EDGQTRELQN HLGLSAPVPR GRKGKKVKTQ TSSFDIQKAE WLRKYNPEQL LQDEGYKKHI
KHHCNKVLLR VRMLYYLKQE VIGNECQKVF DGVDASDIDV WVPEPDHSEV PAEWWDFDAD
KSLLIGVFKH GYEKYNTIRA DPALCFLERV GKPDEKAVAA EQRANDYMDG DVEDPEYKPA
PAIFKDDIED DVSSPGDLVI ADGDGQLMEG DKVYWPTQSA LTTRLRRLIT AYQRTNKNRQ
IQQIQPTFSV PTSVMQPIYE EATLNPKMAA KIERQQRWTR REEADFYRVV STFGVVFDPD
RGQFDWTKFR AMARLHKKTD DSLEKYLYAF MSMCRRVCRL PSKEELVDPN IFIQPITEER
ASRTLYRIEL LRKVREQALR HPQLFERLKL CHPNPDLPVW WECGPHDRDL LIGAAKHGVS
RTDYHILRDP ELSFMAAQRN YSQSKMAHSR TSTPLLQQYQ VALSASPLTS LPRLLDAKGI
ILEEMKVKSE NLKEEPQSSE EESMSSVETR TLIKSEPVSP KNGVLPQATG DQKSGGKCET
DRRMVAARTE PLTPNPASKK PRVHKRGSES SSDSDSDSER SSCSSRSSSS SSSSSCSHSR
SGSSSSSSSS CSSASSSSSS STSSSSSSSS SSSEESDSDE EEAQKRESTT HMKAYDEESV
ASLSTTQDET QDSFQMNNGT PESAYILQGG YMLAASYWPK DRVMINRLDS ICQTVLKGKW
PSARRSYDAN TVASFYTTKL LDSPGAATEY SDPSVPTPPG AGVKEEHDQS TQMSKEGGLK
LTFQKQGLAQ KRPFDGEDGA LGQQQYLTRL RELQSASETS LVNFPKSIPV SGTSIQPTLG
ANGVILDNQP IVKKRRGRRK NVEGVDIFFF NRNKPPNHVS LGLTSSQIST GINPALSYTQ
PQGIPDTESP VPVINLKDGT RLAGDDAPKR KDLEKWLKEH PGYVEDLGAF IPRMQLHEGR
PKQKRHRCRN PNKLDVNSLT GEERVQLINR RNARKVGGAF APPLKDLCRF LKENSEYGVA
PEWGDVVKQS GFLPESMYER ILTGPVVREE VSRRGRRPKS GIAKATAAAA AASATSVSGN
PLLANGLLPG VDLTTLQALQ QNLQNLQSLQ VTAGLMGMPT GLPSGGEAKN MAAMFPMLLS
GMAGLPNLLG MGGLLTKPTE SGTEDKKGSD SKESEGKTER TESQSSENGG ENSVSSSPSA
SSTAALNTAA AANPLALNPL LLSNILYPGM LLTPGLNLHI PTLSQSNTFD VQNKNSDLGS
SKSVEVKEED SRIKDQEDKG GTEPSPLNEN STDEGSEKAD ASSGSDSTSS SSEDSDSSNE
D*
speed 0.96 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.00651767974584476 (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) chr16:53358439A>GN/A show variant in all transcripts   IGV
HGNC symbol CHD9
Ensembl transcript ID ENST00000564845
Genbank transcript ID N/A
UniProt peptide Q3L8U1
alteration type single base exchange
alteration region CDS
DNA changes c.8278A>G
cDNA.8580A>G
g.269495A>G
AA changes T2760A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 2760
frameshift no
known variant Reference ID: rs3743771
databasehomozygous (G/G)heterozygousallele carriers
1000G128799927
ExAC41712250626677
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2450.964
1.4370.995
(flanking)5.7330.999
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased269501wt: 0.3976 / mu: 0.4431 (marginal change - not scored)wt: CAAGTTCTCCTTCCACATCCTCTACTGCTGCATTAAATACA
mu: CAAGTTCTCCTTCCGCATCCTCTACTGCTGCATTAAATACA		 tcct|CTAC
Acc marginally increased269503wt: 0.9260 / mu: 0.9266 (marginal change - not scored)wt: AGTTCTCCTTCCACATCCTCTACTGCTGCATTAAATACAGC
mu: AGTTCTCCTTCCGCATCCTCTACTGCTGCATTAAATACAGC		 ctct|ACTG
Acc increased269494wt: 0.79 / mu: 0.91wt: TCTGTGTCAAGTTCTCCTTCCACATCCTCTACTGCTGCATT
mu: TCTGTGTCAAGTTCTCCTTCCGCATCCTCTACTGCTGCATT		 ttcc|ACAT
Acc increased269505wt: 0.44 / mu: 0.62wt: TTCTCCTTCCACATCCTCTACTGCTGCATTAAATACAGCTG
mu: TTCTCCTTCCGCATCCTCTACTGCTGCATTAAATACAGCTG		 ctac|TGCT
distance from splice site 508
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      2760GGENSVSSSPSTSSTAALNTAAAA
mutated  not conserved    2760GGENSVSSSPSASSTAALNTAAA
Ptroglodytes  all identical  ENSPTRG00000008113  2761TSSTAALNTAAA
Mmulatta  all identical  ENSMMUG00000016310  2776GGENSVSSSPSTSSTAALNTAAA
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000056608  2765GGERCVPGSPSTSSTAALSSAAA
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000009125  2303--TSSSSSSSATPSSAS
Drerio  not conserved  ENSDARG00000074498  2841TTSNQTSAS------------AS
Dmelanogaster  no alignment  FBgn0086902  n/a
Celegans  no alignment  T04D1.4  n/a
Xtropicalis  all identical  ENSXETG00000000349  2759ANQN--TSPPSTST----GMAVT
protein features
start (aa)end (aa)featuredetails 
27592759CONFLICTS -> N (in Ref. 3; AAT66509).might get lost (downstream of altered splice site)
27762776CONFLICTT -> A (in Ref. 1; AAQ24287 and 6; BAA20767).might get lost (downstream of altered splice site)
27852788COMPBIASPoly-Ala.might get lost (downstream of altered splice site)
27932798MOTIFLXXLL motif 5.might get lost (downstream of altered splice site)
28782888COMPBIASPoly-Ser.might get lost (downstream of altered splice site)
28792879MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
28832883MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
28912891MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 8646 / 8646
position (AA) of stopcodon in wt / mu AA sequence 2882 / 2882
position of stopcodon in wt / mu cDNA 8948 / 8948
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 303 / 303
chromosome 16
strand 1
last intron/exon boundary 8073
theoretical NMD boundary in CDS 7720
length of CDS 8646
coding sequence (CDS) position 8278
cDNA position
(for ins/del: last normal base / first normal base)		 8580
gDNA position
(for ins/del: last normal base / first normal base)		 269495
chromosomal position
(for ins/del: last normal base / first normal base)		 53358439
original gDNA sequence snippet CTGTGTCAAGTTCTCCTTCCACATCCTCTACTGCTGCATTA
altered gDNA sequence snippet CTGTGTCAAGTTCTCCTTCCGCATCCTCTACTGCTGCATTA
original cDNA sequence snippet CTGTGTCAAGTTCTCCTTCCACATCCTCTACTGCTGCATTA
altered cDNA sequence snippet CTGTGTCAAGTTCTCCTTCCGCATCCTCTACTGCTGCATTA
wildtype AA sequence MTDPMMDFFD DANLFGETLE GLSDDAFVQP GPVSLVDELN LGAEFEPLHI DSLNHVQGTP
THQKMTDFEQ LNQFDSIKFH HVNQSFGSPA EHVLSPHSQF NCSPIHPQNQ PNGLFPDVSD
GSPMWGHQTA TTISNQNGSP FHQQGHSHSM HQNKSFVAHH DFALFQANEQ QTQCTSLRSQ
QNRNNLNPGQ NSLSQSKNFM NVSGPHRVNV NHPPQMTNAS NSQQSISMQQ FSQTSNPSAH
FHKCSSHQEG NFNGPSPNMT SCSVSNSQQF SSHYSFSSNH ISPNSLLQSS AVLASNHTNQ
TLSDFTGSNS FSPHRGIKQE STQHILNPNT SLNSNNFQIL HSSHPQGNYS NSKLSPVHMN
FPDPVDSGTQ MGHFNDHVET NGFSSLEENL LHQVESQTEP FTGLDPEDLL QEGLLPHFDE
STFGQDNSSH ILDHDLDRQF TSHLVTRPSD MAQTQLQSQA RSWHSSFSNH QHLHDRNHLC
LQRQPPSSKK SDGSGTYTKL QNTQVRVMSE KKQRKKVESE SKQEKANRII SEAIAKAKER
GERNIPRVMS PENFPTASVE GKEEKKGRRM KSKPKDKDSK KTKTCSKLKE KTKIGKLIIT
LGKKQKRKNE SSDEISDAEQ MPQHTLKDQD SQKRRSNRQI KRKKYAEDIE GKQSEEEVKG
SMKIKKNSAP LPGEQPLQLF VENPSEEDAA IVDKILSSRT VKKEISPGVM IDTEEFFVKY
KNYSYLHCEW ATEEQLLKDK RIQQKIKRFK LRQAQRAHFF ADMEEEPFNP DYVEVDRVLE
VSFCEDKDTG EPVIYYLVKW CSLPYEDSTW ELKEDVDLAK IEEFEQLQAS RPDTRRLDRP
PSNIWKKIDQ SRDYKNGNQL REYQLEGLNW LLFNWYNRRN CILADEMGLG KTIQSITFLY
EILLTGIRGP FLIIAPLSTI ANWEREFRTW TDINVVVYHG SLISRQMIQQ YEMYFRDSQG
RIIRGAYRFQ AIITTFEMIL GGCGELNAIE WRCVIIDEAH RLKNKNCKLL EGLKLMNLEH
KVLLTGTPLQ NTVEELFSLL HFLEPLRFPS ESTFMQEFGD LKTEEQVQKL QAILKPMMLR
RLKEDVEKKL APKEETIIEV ELTNIQKKYY RAILEKNFSF LSKGAGQTNV PNLVNTMMEL
RKCCNHPYLI KGAEEKILGE FRDTYNPAAS DFHLQAMIQS AGKLVLIDKL LPKMKAGGHK
VLIFSQMVRC LDILEDYLIH KRYLYERIDG RVRGNLRQAA IDRFSKPDSD RFVFLLCTRA
GGLGINLTAA DTCIIFDSDW NPQNDLQAQA RCHRIGQNKA VKVYRLVTRN SYEREMFDRA
SLKLGLDKAV LQSMSGRESN VGGIQQLSKK EIEDLLRRGA YGAIMEEEDE GSKFCEEDID
QILLRRTKTI TIESEGRGST FAKASFVASG NRTDISLDDP NFWQKWAKKA EIDIEAISGR
NSLVIDTPRI RKQTRPFSAT KDELAELSEA ESEGDEKPKL RRPCDRSNGY GRTECFRVEK
NLLVYGWGRW REILSHGRFK RQLNEHDVEI ICRALLAYCL VHYRGDEKIK GFIWDLITPT
EDGQTRELQN HLGLSAPVPR GRKGKKVKTQ TSSFDIQKAE WLRKYNPEQL LQDEGYKKHI
KHHCNKVLLR VRMLYYLKQE VIGNECQKVF DGVDASDIDV WVPEPDHSEV PAEWWDFDAD
KSLLIGVFKH GYEKYNTIRA DPALCFLERV GKPDEKAVAA EQRANDYMDG DVEDPEYKPA
PAIFKDDIED DVSSPGDLVI ADGDGQLMEG DKVYWPTQSA LTTRLRRLIT AYQRTNKNRQ
IQQIQPTFSV PTSVMQPIYE EATLNPKMAA KIERQQRWTR REEADFYRVV STFGVVFDPD
RGQFDWTKFR AMARLHKKTD DSLEKYLYAF MSMCRRVCRL PSKEELVDPN IFIQPITEER
ASRTLYRIEL LRKVREQALR HPQLFERLKL CHPNPDLPVW WECGPHDRDL LIGAAKHGVS
RTDYHILRDP ELSFMAAQRN YSQSKMAHSR TSTPLLQQYQ VALSASPLTS LPRLLDAKGI
ILEEMKVKSE NLKEEPQSSE EESMSSVETR TLIKSEPVSP KNGVLPQATG DQKSGGKCET
DRRMVAARTE PLTPNPASKK PRVHKRGSES SSDSDSDSER SSCSSRSSSS SSSSSCSHSR
SGSSSSSSSS CSSASSSSSS STSSSSSSSS SSSEESDSDE EEAQKRESTT HMKAYDEESV
ASLSTTQDET QDSFQMNNGT PESAYILQGG YMLAASYWPK DRVMINRLDS ICQTVLKGKW
PSARRSYDAN TVASFYTTKL LDSPGAATEY SDPSVPTPPG AGVKEEHDQS TQMSKEGGLK
LTFQKQGLAQ KRPFDGEDGA LGQQQYLTRL RELQSASETS LVNFPKSIPV SGTSIQPTLG
ANGVILDNQP IVKKRRGRRK NVEGVDIFFF NRNKPPNHVS LGLTSSQIST GINPALSYTQ
PQGIPDTESP VPVINLKDGT RLAGDDAPKR KDLEKWLKEH PGYVEDLGAF IPRMQLHEGR
PKQKRHRCRN PNKLDVNSLT GEERVQLINR RNARKVGGAF APPLKDLCRF LKENSEYGVA
PEWGDVVKQS GFLPESMYER ILTGPVVREE VSRRGRRPKS GIAKATAAAA AASATSVSGN
PLLANGLLPG VDLTTLQALQ QNLQNLQSLQ VTAGLMGMPT GLPSGGEAKN MAAMFPMLLS
GMAGLPNLLG MGGLLTKPTE SGTEDKKGSD SKESEGKTER TESQSSENGG ENSVSSSPST
SSTAALNTAA AANPLALNPL LLSNILYPGM LLTPGLNLHI PTLSQSNTFD VQNKNSDLGS
SKSVEVKEED SRIKDQEDKG GTEPSPLNEN STDEGSEKAD ASSGSDSTSS SSEDSDSSNE
D*
mutated AA sequence MTDPMMDFFD DANLFGETLE GLSDDAFVQP GPVSLVDELN LGAEFEPLHI DSLNHVQGTP
THQKMTDFEQ LNQFDSIKFH HVNQSFGSPA EHVLSPHSQF NCSPIHPQNQ PNGLFPDVSD
GSPMWGHQTA TTISNQNGSP FHQQGHSHSM HQNKSFVAHH DFALFQANEQ QTQCTSLRSQ
QNRNNLNPGQ NSLSQSKNFM NVSGPHRVNV NHPPQMTNAS NSQQSISMQQ FSQTSNPSAH
FHKCSSHQEG NFNGPSPNMT SCSVSNSQQF SSHYSFSSNH ISPNSLLQSS AVLASNHTNQ
TLSDFTGSNS FSPHRGIKQE STQHILNPNT SLNSNNFQIL HSSHPQGNYS NSKLSPVHMN
FPDPVDSGTQ MGHFNDHVET NGFSSLEENL LHQVESQTEP FTGLDPEDLL QEGLLPHFDE
STFGQDNSSH ILDHDLDRQF TSHLVTRPSD MAQTQLQSQA RSWHSSFSNH QHLHDRNHLC
LQRQPPSSKK SDGSGTYTKL QNTQVRVMSE KKQRKKVESE SKQEKANRII SEAIAKAKER
GERNIPRVMS PENFPTASVE GKEEKKGRRM KSKPKDKDSK KTKTCSKLKE KTKIGKLIIT
LGKKQKRKNE SSDEISDAEQ MPQHTLKDQD SQKRRSNRQI KRKKYAEDIE GKQSEEEVKG
SMKIKKNSAP LPGEQPLQLF VENPSEEDAA IVDKILSSRT VKKEISPGVM IDTEEFFVKY
KNYSYLHCEW ATEEQLLKDK RIQQKIKRFK LRQAQRAHFF ADMEEEPFNP DYVEVDRVLE
VSFCEDKDTG EPVIYYLVKW CSLPYEDSTW ELKEDVDLAK IEEFEQLQAS RPDTRRLDRP
PSNIWKKIDQ SRDYKNGNQL REYQLEGLNW LLFNWYNRRN CILADEMGLG KTIQSITFLY
EILLTGIRGP FLIIAPLSTI ANWEREFRTW TDINVVVYHG SLISRQMIQQ YEMYFRDSQG
RIIRGAYRFQ AIITTFEMIL GGCGELNAIE WRCVIIDEAH RLKNKNCKLL EGLKLMNLEH
KVLLTGTPLQ NTVEELFSLL HFLEPLRFPS ESTFMQEFGD LKTEEQVQKL QAILKPMMLR
RLKEDVEKKL APKEETIIEV ELTNIQKKYY RAILEKNFSF LSKGAGQTNV PNLVNTMMEL
RKCCNHPYLI KGAEEKILGE FRDTYNPAAS DFHLQAMIQS AGKLVLIDKL LPKMKAGGHK
VLIFSQMVRC LDILEDYLIH KRYLYERIDG RVRGNLRQAA IDRFSKPDSD RFVFLLCTRA
GGLGINLTAA DTCIIFDSDW NPQNDLQAQA RCHRIGQNKA VKVYRLVTRN SYEREMFDRA
SLKLGLDKAV LQSMSGRESN VGGIQQLSKK EIEDLLRRGA YGAIMEEEDE GSKFCEEDID
QILLRRTKTI TIESEGRGST FAKASFVASG NRTDISLDDP NFWQKWAKKA EIDIEAISGR
NSLVIDTPRI RKQTRPFSAT KDELAELSEA ESEGDEKPKL RRPCDRSNGY GRTECFRVEK
NLLVYGWGRW REILSHGRFK RQLNEHDVEI ICRALLAYCL VHYRGDEKIK GFIWDLITPT
EDGQTRELQN HLGLSAPVPR GRKGKKVKTQ TSSFDIQKAE WLRKYNPEQL LQDEGYKKHI
KHHCNKVLLR VRMLYYLKQE VIGNECQKVF DGVDASDIDV WVPEPDHSEV PAEWWDFDAD
KSLLIGVFKH GYEKYNTIRA DPALCFLERV GKPDEKAVAA EQRANDYMDG DVEDPEYKPA
PAIFKDDIED DVSSPGDLVI ADGDGQLMEG DKVYWPTQSA LTTRLRRLIT AYQRTNKNRQ
IQQIQPTFSV PTSVMQPIYE EATLNPKMAA KIERQQRWTR REEADFYRVV STFGVVFDPD
RGQFDWTKFR AMARLHKKTD DSLEKYLYAF MSMCRRVCRL PSKEELVDPN IFIQPITEER
ASRTLYRIEL LRKVREQALR HPQLFERLKL CHPNPDLPVW WECGPHDRDL LIGAAKHGVS
RTDYHILRDP ELSFMAAQRN YSQSKMAHSR TSTPLLQQYQ VALSASPLTS LPRLLDAKGI
ILEEMKVKSE NLKEEPQSSE EESMSSVETR TLIKSEPVSP KNGVLPQATG DQKSGGKCET
DRRMVAARTE PLTPNPASKK PRVHKRGSES SSDSDSDSER SSCSSRSSSS SSSSSCSHSR
SGSSSSSSSS CSSASSSSSS STSSSSSSSS SSSEESDSDE EEAQKRESTT HMKAYDEESV
ASLSTTQDET QDSFQMNNGT PESAYILQGG YMLAASYWPK DRVMINRLDS ICQTVLKGKW
PSARRSYDAN TVASFYTTKL LDSPGAATEY SDPSVPTPPG AGVKEEHDQS TQMSKEGGLK
LTFQKQGLAQ KRPFDGEDGA LGQQQYLTRL RELQSASETS LVNFPKSIPV SGTSIQPTLG
ANGVILDNQP IVKKRRGRRK NVEGVDIFFF NRNKPPNHVS LGLTSSQIST GINPALSYTQ
PQGIPDTESP VPVINLKDGT RLAGDDAPKR KDLEKWLKEH PGYVEDLGAF IPRMQLHEGR
PKQKRHRCRN PNKLDVNSLT GEERVQLINR RNARKVGGAF APPLKDLCRF LKENSEYGVA
PEWGDVVKQS GFLPESMYER ILTGPVVREE VSRRGRRPKS GIAKATAAAA AASATSVSGN
PLLANGLLPG VDLTTLQALQ QNLQNLQSLQ VTAGLMGMPT GLPSGGEAKN MAAMFPMLLS
GMAGLPNLLG MGGLLTKPTE SGTEDKKGSD SKESEGKTER TESQSSENGG ENSVSSSPSA
SSTAALNTAA AANPLALNPL LLSNILYPGM LLTPGLNLHI PTLSQSNTFD VQNKNSDLGS
SKSVEVKEED SRIKDQEDKG GTEPSPLNEN STDEGSEKAD ASSGSDSTSS SSEDSDSSNE
D*
speed 1.37 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.00651767974584477 (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) chr16:53358439A>GN/A show variant in all transcripts   IGV
HGNC symbol CHD9
Ensembl transcript ID ENST00000398510
Genbank transcript ID N/A
UniProt peptide Q3L8U1
alteration type single base exchange
alteration region CDS
DNA changes c.8326A>G
cDNA.8413A>G
g.269495A>G
AA changes T2776A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 2776
frameshift no
known variant Reference ID: rs3743771
databasehomozygous (G/G)heterozygousallele carriers
1000G128799927
ExAC41712250626677
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2450.964
1.4370.995
(flanking)5.7330.999
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased269501wt: 0.3976 / mu: 0.4431 (marginal change - not scored)wt: CAAGTTCTCCTTCCACATCCTCTACTGCTGCATTAAATACA
mu: CAAGTTCTCCTTCCGCATCCTCTACTGCTGCATTAAATACA		 tcct|CTAC
Acc marginally increased269503wt: 0.9260 / mu: 0.9266 (marginal change - not scored)wt: AGTTCTCCTTCCACATCCTCTACTGCTGCATTAAATACAGC
mu: AGTTCTCCTTCCGCATCCTCTACTGCTGCATTAAATACAGC		 ctct|ACTG
Acc increased269494wt: 0.79 / mu: 0.91wt: TCTGTGTCAAGTTCTCCTTCCACATCCTCTACTGCTGCATT
mu: TCTGTGTCAAGTTCTCCTTCCGCATCCTCTACTGCTGCATT		 ttcc|ACAT
Acc increased269505wt: 0.44 / mu: 0.62wt: TTCTCCTTCCACATCCTCTACTGCTGCATTAAATACAGCTG
mu: TTCTCCTTCCGCATCCTCTACTGCTGCATTAAATACAGCTG		 ctac|TGCT
distance from splice site 508
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      2776GGENSVSSSPSTSSTAALNTAAAA
mutated  not conserved    2776GGENSVSSSPSASSTAALNTAAA
Ptroglodytes  all identical  ENSPTRG00000008113  2761GGENSVSSSPSTSSTAALNTAAA
Mmulatta  all identical  ENSMMUG00000016310  2776GGENSVSSSPSTSSTAALNTAAA
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000056608  2765GGERCVPGSPSTSSTAALSSAAA
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000009125  2298SSSSSSATPSSASAASAAS
Drerio  not conserved  ENSDARG00000074498  2835TTSNQTSAS------------AS
Dmelanogaster  no alignment  FBgn0086902  n/a
Celegans  no alignment  T04D1.4  n/a
Xtropicalis  all identical  ENSXETG00000000349  2759ANQN--TSPPSTST----GMAVT
protein features
start (aa)end (aa)featuredetails 
27762776CONFLICTT -> A (in Ref. 1; AAQ24287 and 6; BAA20767).lost
27852788COMPBIASPoly-Ala.might get lost (downstream of altered splice site)
27932798MOTIFLXXLL motif 5.might get lost (downstream of altered splice site)
28782888COMPBIASPoly-Ser.might get lost (downstream of altered splice site)
28792879MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
28832883MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
28912891MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 8694 / 8694
position (AA) of stopcodon in wt / mu AA sequence 2898 / 2898
position of stopcodon in wt / mu cDNA 8781 / 8781
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 88 / 88
chromosome 16
strand 1
last intron/exon boundary 7906
theoretical NMD boundary in CDS 7768
length of CDS 8694
coding sequence (CDS) position 8326
cDNA position
(for ins/del: last normal base / first normal base)		 8413
gDNA position
(for ins/del: last normal base / first normal base)		 269495
chromosomal position
(for ins/del: last normal base / first normal base)		 53358439
original gDNA sequence snippet CTGTGTCAAGTTCTCCTTCCACATCCTCTACTGCTGCATTA
altered gDNA sequence snippet CTGTGTCAAGTTCTCCTTCCGCATCCTCTACTGCTGCATTA
original cDNA sequence snippet CTGTGTCAAGTTCTCCTTCCACATCCTCTACTGCTGCATTA
altered cDNA sequence snippet CTGTGTCAAGTTCTCCTTCCGCATCCTCTACTGCTGCATTA
wildtype AA sequence MTDPMMDFFD DANLFGETLE GLSDDAFVQP GPVSLVDELN LGAEFEPLHI DSLNHVQGTP
THQKMTDFEQ LNQFDSIKFH HVNQSFGSPA EHVLSPHSQF NCSPIHPQNQ PNGLFPDVSD
GSPMWGHQTA TTISNQNGSP FHQQGHSHSM HQNKSFVAHH DFALFQANEQ QTQCTSLRSQ
QNRNNLNPGQ NSLSQSKNFM NVSGPHRVNV NHPPQMTNAS NSQQSISMQQ FSQTSNPSAH
FHKCSSHQEG NFNGPSPNMT SCSVSNSQQF SSHYSFSSNH ISPNSLLQSS AVLASNHTNQ
TLSDFTGSNS FSPHRGIKQE STQHILNPNT SLNSNNFQIL HSSHPQGNYS NSKLSPVHMN
FPDPVDSGTQ MGHFNDHVET NGFSSLEENL LHQVESQTEP FTGLDPEDLL QEGLLPHFDE
STFGQDNSSH ILDHDLDRQF TSHLVTRPSD MAQTQLQSQA RSWHSSFSNH QHLHDRNHLC
LQRQPPSSKK SDGSGTYTKL QNTQVRVMSE KKQRKKVESE SKQEKANRII SEAIAKAKER
GERNIPRVMS PENFPTASVE GKEEKKGRRM KSKPKDKDSK KTKTCSKLKE KTKIGKLIIT
LGKKQKRKNE SSDEISDAEQ MPQHTLKDQD SQKRRSNRQI KRKKYAEDIE GKQSEEEVKG
SMKIKKNSAP LPGEQPLQLF VENPSEEDAA IVDKILSSRT VKKEISPGVM IDTEEFFVKY
KNYSYLHCEW ATEEQLLKDK RIQQKIKRFK LRQAQRAHFF ADMEEEPFNP DYVEVDRVLE
VSFCEDKDTG EPVIYYLVKW CSLPYEDSTW ELKEDVDLAK IEEFEQLQAS RPDTRRLDRP
PSNIWKKIDQ SRDYKNGNQL REYQLEGLNW LLFNWYNRRN CILADEMGLG KTIQSITFLY
EILLTGIRGP FLIIAPLSTI ANWEREFRTW TDINVVVYHG SLISRQMIQQ YEMYFRDSQG
RIIRGAYRFQ AIITTFEMIL GGCGELNAIE WRCVIIDEAH RLKNKNCKLL EGLKLMNLEH
KVLLTGTPLQ NTVEELFSLL HFLEPLRFPS ESTFMQEFGD LKTEEQVQKL QAILKPMMLR
RLKEDVEKKL APKEETIIEV ELTNIQKKYY RAILEKNFSF LSKGAGQTNV PNLVNTMMEL
RKCCNHPYLI KGAEEKILGE FRDTYNPAAS DFHLQAMIQS AGKLVLIDKL LPKMKAGGHK
VLIFSQMVRC LDILEDYLIH KRYLYERIDG RVRGNLRQAA IDRFSKPDSD RFVFLLCTRA
GGLGINLTAA DTCIIFDSDW NPQNDLQAQA RCHRIGQNKA VKVYRLVTRN SYEREMFDRA
SLKLGLDKAV LQSMSGRESN VGGIQQLSKK EIEDLLRRGA YGAIMEEEDE GSKFCEEDID
QILLRRTKTI TIESEGRGST FAKASFVASG NRTDISLDDP NFWQKWAKKA EIDIEAISGR
NSLVIDTPRI RKQTRPFSAT KDELAELSEA ESEGDEKPKL RRPCDRSNGY GRTECFRVEK
NLLVYGWGRW REILSHGRFK RQLNEHDVEI ICRALLAYCL VHYRGDEKIK GFIWDLITPT
EDGQTRELQN HLGLSAPVPR GRKGKKVKTQ TSSFDIQKAE WLRKYNPEQL LQDEGYKKHI
KHHCNKVLLR VRMLYYLKQE VIGNECQKVF DGVDASDIDV WVPEPDHSEV PAEWWDFDAD
KSLLIGVFKH GYEKYNTIRA DPALCFLERV GKPDEKAVAA EQRANDYMDG DVEDPEYKPA
PAIFKDDIED DVSSPGDLVI ADGDGQLMEG DKVYWPTQSA LTTRLRRLIT AYQRTNKNRQ
IQQIQPTFSV PTSVMQPIYE EATLNPKMAA KIERQQRWTR REEADFYRVV STFGVVFDPD
RGQFDWTKFR AMARLHKKTD DSLEKYLYAF MSMCRRVCRL PSKEELVDPN IFIQPITEER
ASRTLYRIEL LRKVREQALR HPQLFERLKL CHPNPDLPVW WECGPHDRDL LIGAAKHGVS
RTDYHILRDP ELSFMAAQRN YSQSKMAHSR TSTPLLQQYQ VALSASPLTS LPRLLDAKGI
ILEEMKVKSE NLKEEPQSSE EESMSSVETR TLIKSEPVSP KNGVLPQATG DQKSGGKCET
DRRMVAARTE PLTPNPASKK PRVHKRGSES SSDSDSDSER SSCSSRSSSS SSSSSCSHSR
SGSSSSSSSS CSSASSSSSS STSSSSSSSS SSSEESDSDE EEAQKRESTT HMKAYDEESV
ASLSTTQDET QDSFQMNNGT PESAYILQGG YMLAASYWPK DRVMINRLDS ICQTVLKGKW
PSARRSYDAN TVASFYTTKL LDSPGAATEY SDPSVPTPPG AGVKEEHDQS TQMSKVKKHV
REKEFTVKIK DEGGLKLTFQ KQGLAQKRPF DGEDGALGQQ QYLTRLRELQ SASETSLVNF
PKSIPVSGTS IQPTLGANGV ILDNQPIVKK RRGRRKNVEG VDIFFFNRNK PPNHVSLGLT
SSQISTGINP ALSYTQPQGI PDTESPVPVI NLKDGTRLAG DDAPKRKDLE KWLKEHPGYV
EDLGAFIPRM QLHEGRPKQK RHRCRNPNKL DVNSLTGEER VQLINRRNAR KVGGAFAPPL
KDLCRFLKEN SEYGVAPEWG DVVKQSGFLP ESMYERILTG PVVREEVSRR GRRPKSGIAK
ATAAAAAASA TSVSGNPLLA NGLLPGVDLT TLQALQQNLQ NLQSLQVTAG LMGMPTGLPS
GGEAKNMAAM FPMLLSGMAG LPNLLGMGGL LTKPTESGTE DKKGSDSKES EGKTERTESQ
SSENGGENSV SSSPSTSSTA ALNTAAAANP LALNPLLLSN ILYPGMLLTP GLNLHIPTLS
QSNTFDVQNK NSDLGSSKSV EVKEEDSRIK DQEDKGGTEP SPLNENSTDE GSEKADASSG
SDSTSSSSED SDSSNED*
mutated AA sequence MTDPMMDFFD DANLFGETLE GLSDDAFVQP GPVSLVDELN LGAEFEPLHI DSLNHVQGTP
THQKMTDFEQ LNQFDSIKFH HVNQSFGSPA EHVLSPHSQF NCSPIHPQNQ PNGLFPDVSD
GSPMWGHQTA TTISNQNGSP FHQQGHSHSM HQNKSFVAHH DFALFQANEQ QTQCTSLRSQ
QNRNNLNPGQ NSLSQSKNFM NVSGPHRVNV NHPPQMTNAS NSQQSISMQQ FSQTSNPSAH
FHKCSSHQEG NFNGPSPNMT SCSVSNSQQF SSHYSFSSNH ISPNSLLQSS AVLASNHTNQ
TLSDFTGSNS FSPHRGIKQE STQHILNPNT SLNSNNFQIL HSSHPQGNYS NSKLSPVHMN
FPDPVDSGTQ MGHFNDHVET NGFSSLEENL LHQVESQTEP FTGLDPEDLL QEGLLPHFDE
STFGQDNSSH ILDHDLDRQF TSHLVTRPSD MAQTQLQSQA RSWHSSFSNH QHLHDRNHLC
LQRQPPSSKK SDGSGTYTKL QNTQVRVMSE KKQRKKVESE SKQEKANRII SEAIAKAKER
GERNIPRVMS PENFPTASVE GKEEKKGRRM KSKPKDKDSK KTKTCSKLKE KTKIGKLIIT
LGKKQKRKNE SSDEISDAEQ MPQHTLKDQD SQKRRSNRQI KRKKYAEDIE GKQSEEEVKG
SMKIKKNSAP LPGEQPLQLF VENPSEEDAA IVDKILSSRT VKKEISPGVM IDTEEFFVKY
KNYSYLHCEW ATEEQLLKDK RIQQKIKRFK LRQAQRAHFF ADMEEEPFNP DYVEVDRVLE
VSFCEDKDTG EPVIYYLVKW CSLPYEDSTW ELKEDVDLAK IEEFEQLQAS RPDTRRLDRP
PSNIWKKIDQ SRDYKNGNQL REYQLEGLNW LLFNWYNRRN CILADEMGLG KTIQSITFLY
EILLTGIRGP FLIIAPLSTI ANWEREFRTW TDINVVVYHG SLISRQMIQQ YEMYFRDSQG
RIIRGAYRFQ AIITTFEMIL GGCGELNAIE WRCVIIDEAH RLKNKNCKLL EGLKLMNLEH
KVLLTGTPLQ NTVEELFSLL HFLEPLRFPS ESTFMQEFGD LKTEEQVQKL QAILKPMMLR
RLKEDVEKKL APKEETIIEV ELTNIQKKYY RAILEKNFSF LSKGAGQTNV PNLVNTMMEL
RKCCNHPYLI KGAEEKILGE FRDTYNPAAS DFHLQAMIQS AGKLVLIDKL LPKMKAGGHK
VLIFSQMVRC LDILEDYLIH KRYLYERIDG RVRGNLRQAA IDRFSKPDSD RFVFLLCTRA
GGLGINLTAA DTCIIFDSDW NPQNDLQAQA RCHRIGQNKA VKVYRLVTRN SYEREMFDRA
SLKLGLDKAV LQSMSGRESN VGGIQQLSKK EIEDLLRRGA YGAIMEEEDE GSKFCEEDID
QILLRRTKTI TIESEGRGST FAKASFVASG NRTDISLDDP NFWQKWAKKA EIDIEAISGR
NSLVIDTPRI RKQTRPFSAT KDELAELSEA ESEGDEKPKL RRPCDRSNGY GRTECFRVEK
NLLVYGWGRW REILSHGRFK RQLNEHDVEI ICRALLAYCL VHYRGDEKIK GFIWDLITPT
EDGQTRELQN HLGLSAPVPR GRKGKKVKTQ TSSFDIQKAE WLRKYNPEQL LQDEGYKKHI
KHHCNKVLLR VRMLYYLKQE VIGNECQKVF DGVDASDIDV WVPEPDHSEV PAEWWDFDAD
KSLLIGVFKH GYEKYNTIRA DPALCFLERV GKPDEKAVAA EQRANDYMDG DVEDPEYKPA
PAIFKDDIED DVSSPGDLVI ADGDGQLMEG DKVYWPTQSA LTTRLRRLIT AYQRTNKNRQ
IQQIQPTFSV PTSVMQPIYE EATLNPKMAA KIERQQRWTR REEADFYRVV STFGVVFDPD
RGQFDWTKFR AMARLHKKTD DSLEKYLYAF MSMCRRVCRL PSKEELVDPN IFIQPITEER
ASRTLYRIEL LRKVREQALR HPQLFERLKL CHPNPDLPVW WECGPHDRDL LIGAAKHGVS
RTDYHILRDP ELSFMAAQRN YSQSKMAHSR TSTPLLQQYQ VALSASPLTS LPRLLDAKGI
ILEEMKVKSE NLKEEPQSSE EESMSSVETR TLIKSEPVSP KNGVLPQATG DQKSGGKCET
DRRMVAARTE PLTPNPASKK PRVHKRGSES SSDSDSDSER SSCSSRSSSS SSSSSCSHSR
SGSSSSSSSS CSSASSSSSS STSSSSSSSS SSSEESDSDE EEAQKRESTT HMKAYDEESV
ASLSTTQDET QDSFQMNNGT PESAYILQGG YMLAASYWPK DRVMINRLDS ICQTVLKGKW
PSARRSYDAN TVASFYTTKL LDSPGAATEY SDPSVPTPPG AGVKEEHDQS TQMSKVKKHV
REKEFTVKIK DEGGLKLTFQ KQGLAQKRPF DGEDGALGQQ QYLTRLRELQ SASETSLVNF
PKSIPVSGTS IQPTLGANGV ILDNQPIVKK RRGRRKNVEG VDIFFFNRNK PPNHVSLGLT
SSQISTGINP ALSYTQPQGI PDTESPVPVI NLKDGTRLAG DDAPKRKDLE KWLKEHPGYV
EDLGAFIPRM QLHEGRPKQK RHRCRNPNKL DVNSLTGEER VQLINRRNAR KVGGAFAPPL
KDLCRFLKEN SEYGVAPEWG DVVKQSGFLP ESMYERILTG PVVREEVSRR GRRPKSGIAK
ATAAAAAASA TSVSGNPLLA NGLLPGVDLT TLQALQQNLQ NLQSLQVTAG LMGMPTGLPS
GGEAKNMAAM FPMLLSGMAG LPNLLGMGGL LTKPTESGTE DKKGSDSKES EGKTERTESQ
SSENGGENSV SSSPSASSTA ALNTAAAANP LALNPLLLSN ILYPGMLLTP GLNLHIPTLS
QSNTFDVQNK NSDLGSSKSV EVKEEDSRIK DQEDKGGTEP SPLNENSTDE GSEKADASSG
SDSTSSSSED SDSSNED*
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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.00651767974584476 (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
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr16:53358439A>GN/A show variant in all transcripts   IGV
HGNC symbol CHD9
Ensembl transcript ID ENST00000447540
Genbank transcript ID N/A
UniProt peptide Q3L8U1
alteration type single base exchange
alteration region CDS
DNA changes c.8281A>G
cDNA.8490A>G
g.269495A>G
AA changes T2761A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 2761
frameshift no
known variant Reference ID: rs3743771
databasehomozygous (G/G)heterozygousallele carriers
1000G128799927
ExAC41712250626677
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2450.964
1.4370.995
(flanking)5.7330.999
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased269501wt: 0.3976 / mu: 0.4431 (marginal change - not scored)wt: CAAGTTCTCCTTCCACATCCTCTACTGCTGCATTAAATACA
mu: CAAGTTCTCCTTCCGCATCCTCTACTGCTGCATTAAATACA		 tcct|CTAC
Acc marginally increased269503wt: 0.9260 / mu: 0.9266 (marginal change - not scored)wt: AGTTCTCCTTCCACATCCTCTACTGCTGCATTAAATACAGC
mu: AGTTCTCCTTCCGCATCCTCTACTGCTGCATTAAATACAGC		 ctct|ACTG
Acc increased269494wt: 0.79 / mu: 0.91wt: TCTGTGTCAAGTTCTCCTTCCACATCCTCTACTGCTGCATT
mu: TCTGTGTCAAGTTCTCCTTCCGCATCCTCTACTGCTGCATT		 ttcc|ACAT
Acc increased269505wt: 0.44 / mu: 0.62wt: TTCTCCTTCCACATCCTCTACTGCTGCATTAAATACAGCTG
mu: TTCTCCTTCCGCATCCTCTACTGCTGCATTAAATACAGCTG		 ctac|TGCT
distance from splice site 508
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      2761GGENSVSSSPSTSSTAALNTAAAA
mutated  not conserved    2761ASSTAALNTAAA
Ptroglodytes  all identical  ENSPTRG00000008113  2761STSSTAALNTAAA
Mmulatta  all identical  ENSMMUG00000016310  2776GGENSVSSSPSTSSTAALNTAAA
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000056608  2765GGERCVPGSPSTSSTAALSSAAA
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000009125  2303--TSSSSSSSATPSSAS
Drerio  not conserved  ENSDARG00000074498  2841TTSNQTSAS------------AS
Dmelanogaster  no alignment  FBgn0086902  n/a
Celegans  no alignment  T04D1.4  n/a
Xtropicalis  all identical  ENSXETG00000000349  2759ANQN--TSPPSTST----GMAVT
protein features
start (aa)end (aa)featuredetails 
27762776CONFLICTT -> A (in Ref. 1; AAQ24287 and 6; BAA20767).might get lost (downstream of altered splice site)
27852788COMPBIASPoly-Ala.might get lost (downstream of altered splice site)
27932798MOTIFLXXLL motif 5.might get lost (downstream of altered splice site)
28782888COMPBIASPoly-Ser.might get lost (downstream of altered splice site)
28792879MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
28832883MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
28912891MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 8649 / 8649
position (AA) of stopcodon in wt / mu AA sequence 2883 / 2883
position of stopcodon in wt / mu cDNA 8858 / 8858
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 210 / 210
chromosome 16
strand 1
last intron/exon boundary 7983
theoretical NMD boundary in CDS 7723
length of CDS 8649
coding sequence (CDS) position 8281
cDNA position
(for ins/del: last normal base / first normal base)		 8490
gDNA position
(for ins/del: last normal base / first normal base)		 269495
chromosomal position
(for ins/del: last normal base / first normal base)		 53358439
original gDNA sequence snippet CTGTGTCAAGTTCTCCTTCCACATCCTCTACTGCTGCATTA
altered gDNA sequence snippet CTGTGTCAAGTTCTCCTTCCGCATCCTCTACTGCTGCATTA
original cDNA sequence snippet CTGTGTCAAGTTCTCCTTCCACATCCTCTACTGCTGCATTA
altered cDNA sequence snippet CTGTGTCAAGTTCTCCTTCCGCATCCTCTACTGCTGCATTA
wildtype AA sequence MTDPMMDFFD DANLFGETLE GLSDDAFVQP GPVSLVDELN LGAEFEPLHI DSLNHVQGTP
THQKMTDFEQ LNQFDSIKFH HVNQSFGSPA EHVLSPHSQF NCSPIHPQNQ PNGLFPDVSD
GSPMWGHQTA TTISNQNGSP FHQQGHSHSM HQNKSFVAHH DFALFQANEQ QTQCTSLRSQ
QNRNNLNPGQ NSLSQSKNFM NVSGPHRVNV NHPPQMTNAS NSQQSISMQQ FSQTSNPSAH
FHKCSSHQEG NFNGPSPNMT SCSVSNSQQF SSHYSFSSNH ISPNSLLQSS AVLASNHTNQ
TLSDFTGSNS FSPHRGIKQE STQHILNPNT SLNSNNFQIL HSSHPQGNYS NSKLSPVHMN
FPDPVDSGTQ MGHFNDHVET NGFSSLEENL LHQVESQTEP FTGLDPEDLL QEGLLPHFDE
STFGQDNSSH ILDHDLDRQF TSHLVTRPSD MAQTQLQSQA RSWHSSFSNH QHLHDRNHLC
LQRQPPSSKK SDGSGTYTKL QNTQVRVMSE KKQRKKVESE SKQEKANRII SEAIAKAKER
GERNIPRVMS PENFPTASVE GKEEKKGRRM KSKPKDKDSK KTKTCSKLKE KTKIGKLIIT
LGKKQKRKNE SSDEISDAEQ MPQHTLKDQD SQKRRSNRQI KRKKYAEDIE GKQSEEEVKG
SMKIKKNSAP LPGEQPLQLF VENPSEEDAA IVDKILSSRT VKKEISPGVM IDTEEFFVKY
KNYSYLHCEW ATEEQLLKDK RIQQKIKRFK LRQAQRAHFF ADMEEEPFNP DYVEVDRVLE
VSFCEDKDTG EPVIYYLVKW CSLPYEDSTW ELKEDVDLAK IEEFEQLQAS RPDTRRLDRP
PSNIWKKIDQ SRDYKNGNQL REYQLEGLNW LLFNWYNRRN CILADEMGLG KTIQSITFLY
EILLTGIRGP FLIIAPLSTI ANWEREFRTW TDINVVVYHG SLISRQMIQQ YEMYFRDSQG
RIIRGAYRFQ AIITTFEMIL GGCGELNAIE WRCVIIDEAH RLKNKNCKLL EGLKLMNLEH
KVLLTGTPLQ NTVEELFSLL HFLEPLRFPS ESTFMQEFGD LKTEEQVQKL QAILKPMMLR
RLKEDVEKKL APKEETIIEV ELTNIQKKYY RAILEKNFSF LSKGAGQTNV PNLVNTMMEL
RKCCNHPYLI KGAEEKILGE FRDTYNPAAS DFHLQAMIQS AGKLVLIDKL LPKMKAGGHK
VLIFSQMVRC LDILEDYLIH KRYLYERIDG RVRGNLRQAA IDRFSKPDSD RFVFLLCTRA
GGLGINLTAA DTCIIFDSDW NPQNDLQAQA RCHRIGQNKA VKVYRLVTRN SYEREMFDRA
SLKLGLDKAV LQSMSGRESN VGGIQQLSKK EIEDLLRRGA YGAIMEEEDE GSKFCEEDID
QILLRRTKTI TIESEGRGST FAKASFVASG NRTDISLDDP NFWQKWAKKA EIDIEAISGR
NSLVIDTPRI RKQTRPFSAT KDELAELSEA ESEGDEKPKL RRPCDRSNGY GRTECFRVEK
NLLVYGWGRW REILSHGRFK RQLNEHDVEI ICRALLAYCL VHYRGDEKIK GFIWDLITPT
EDGQTRELQN HLGLSAPVPR GRKGKKVKTQ TSSFDIQKAE WLRKYNPEQL LQDEGYKKHI
KHHCNKVLLR VRMLYYLKQE VIGNECQKVF DGVDASDIDV WVPEPDHSEV PAEWWDFDAD
KSLLIGVFKH GYEKYNTIRA DPALCFLERV GKPDEKAVAA EQRANDYMDG DVEDPEYKPA
PAIFKDDIED DVSSPGDLVI ADGDGQLMEG DKVYWPTQSA LTTRLRRLIT AYQRTNKNRQ
IQQIQPTFSV PTSVMQPIYE EATLNPKMAA KIERQQRWTR REEADFYRVV STFGVVFDPD
RGQFDWTKFR AMARLHKKTD DSLEKYLYAF MSMCRRVCRL PSKEELVDPN IFIQPITEER
ASRTLYRIEL LRKVREQALR HPQLFERLKL CHPNPDLPVW WECGPHDRDL LIGAAKHGVS
RTDYHILRDP ELSFMAAQRN YSQSKMAHSR TSTPLLQQYQ VALSASPLTS LPRLLDAKGI
ILEEMKVKSE NLKEEPQSSE EESMSSVETR TLIKSEPVSP KNGVLPQATG DQKSGGKCET
DRRMVAARTE PLTPNPASKK PRVHKRGSES SSDSDSDSER SSCSSRSSSS SSSSSCSHSR
SGSSSSSSSS CSSASSSSSS STSSSSSSSS SSSEESDSDE EEAQKRAEST THMKAYDEES
VASLSTTQDE TQDSFQMNNG TPESAYILQG GYMLAASYWP KDRVMINRLD SICQTVLKGK
WPSARRSYDA NTVASFYTTK LLDSPGAATE YSDPSVPTPP GAGVKEEHDQ STQMSKEGGL
KLTFQKQGLA QKRPFDGEDG ALGQQQYLTR LRELQSASET SLVNFPKSIP VSGTSIQPTL
GANGVILDNQ PIVKKRRGRR KNVEGVDIFF FNRNKPPNHV SLGLTSSQIS TGINPALSYT
QPQGIPDTES PVPVINLKDG TRLAGDDAPK RKDLEKWLKE HPGYVEDLGA FIPRMQLHEG
RPKQKRHRCR NPNKLDVNSL TGEERVQLIN RRNARKVGGA FAPPLKDLCR FLKENSEYGV
APEWGDVVKQ SGFLPESMYE RILTGPVVRE EVSRRGRRPK SGIAKATAAA AAASATSVSG
NPLLANGLLP GVDLTTLQAL QQNLQNLQSL QVTAGLMGMP TGLPSGGEAK NMAAMFPMLL
SGMAGLPNLL GMGGLLTKPT ESGTEDKKGS DSKESEGKTE RTESQSSENG GENSVSSSPS
TSSTAALNTA AAANPLALNP LLLSNILYPG MLLTPGLNLH IPTLSQSNTF DVQNKNSDLG
SSKSVEVKEE DSRIKDQEDK GGTEPSPLNE NSTDEGSEKA DASSGSDSTS SSSEDSDSSN
ED*
mutated AA sequence MTDPMMDFFD DANLFGETLE GLSDDAFVQP GPVSLVDELN LGAEFEPLHI DSLNHVQGTP
THQKMTDFEQ LNQFDSIKFH HVNQSFGSPA EHVLSPHSQF NCSPIHPQNQ PNGLFPDVSD
GSPMWGHQTA TTISNQNGSP FHQQGHSHSM HQNKSFVAHH DFALFQANEQ QTQCTSLRSQ
QNRNNLNPGQ NSLSQSKNFM NVSGPHRVNV NHPPQMTNAS NSQQSISMQQ FSQTSNPSAH
FHKCSSHQEG NFNGPSPNMT SCSVSNSQQF SSHYSFSSNH ISPNSLLQSS AVLASNHTNQ
TLSDFTGSNS FSPHRGIKQE STQHILNPNT SLNSNNFQIL HSSHPQGNYS NSKLSPVHMN
FPDPVDSGTQ MGHFNDHVET NGFSSLEENL LHQVESQTEP FTGLDPEDLL QEGLLPHFDE
STFGQDNSSH ILDHDLDRQF TSHLVTRPSD MAQTQLQSQA RSWHSSFSNH QHLHDRNHLC
LQRQPPSSKK SDGSGTYTKL QNTQVRVMSE KKQRKKVESE SKQEKANRII SEAIAKAKER
GERNIPRVMS PENFPTASVE GKEEKKGRRM KSKPKDKDSK KTKTCSKLKE KTKIGKLIIT
LGKKQKRKNE SSDEISDAEQ MPQHTLKDQD SQKRRSNRQI KRKKYAEDIE GKQSEEEVKG
SMKIKKNSAP LPGEQPLQLF VENPSEEDAA IVDKILSSRT VKKEISPGVM IDTEEFFVKY
KNYSYLHCEW ATEEQLLKDK RIQQKIKRFK LRQAQRAHFF ADMEEEPFNP DYVEVDRVLE
VSFCEDKDTG EPVIYYLVKW CSLPYEDSTW ELKEDVDLAK IEEFEQLQAS RPDTRRLDRP
PSNIWKKIDQ SRDYKNGNQL REYQLEGLNW LLFNWYNRRN CILADEMGLG KTIQSITFLY
EILLTGIRGP FLIIAPLSTI ANWEREFRTW TDINVVVYHG SLISRQMIQQ YEMYFRDSQG
RIIRGAYRFQ AIITTFEMIL GGCGELNAIE WRCVIIDEAH RLKNKNCKLL EGLKLMNLEH
KVLLTGTPLQ NTVEELFSLL HFLEPLRFPS ESTFMQEFGD LKTEEQVQKL QAILKPMMLR
RLKEDVEKKL APKEETIIEV ELTNIQKKYY RAILEKNFSF LSKGAGQTNV PNLVNTMMEL
RKCCNHPYLI KGAEEKILGE FRDTYNPAAS DFHLQAMIQS AGKLVLIDKL LPKMKAGGHK
VLIFSQMVRC LDILEDYLIH KRYLYERIDG RVRGNLRQAA IDRFSKPDSD RFVFLLCTRA
GGLGINLTAA DTCIIFDSDW NPQNDLQAQA RCHRIGQNKA VKVYRLVTRN SYEREMFDRA
SLKLGLDKAV LQSMSGRESN VGGIQQLSKK EIEDLLRRGA YGAIMEEEDE GSKFCEEDID
QILLRRTKTI TIESEGRGST FAKASFVASG NRTDISLDDP NFWQKWAKKA EIDIEAISGR
NSLVIDTPRI RKQTRPFSAT KDELAELSEA ESEGDEKPKL RRPCDRSNGY GRTECFRVEK
NLLVYGWGRW REILSHGRFK RQLNEHDVEI ICRALLAYCL VHYRGDEKIK GFIWDLITPT
EDGQTRELQN HLGLSAPVPR GRKGKKVKTQ TSSFDIQKAE WLRKYNPEQL LQDEGYKKHI
KHHCNKVLLR VRMLYYLKQE VIGNECQKVF DGVDASDIDV WVPEPDHSEV PAEWWDFDAD
KSLLIGVFKH GYEKYNTIRA DPALCFLERV GKPDEKAVAA EQRANDYMDG DVEDPEYKPA
PAIFKDDIED DVSSPGDLVI ADGDGQLMEG DKVYWPTQSA LTTRLRRLIT AYQRTNKNRQ
IQQIQPTFSV PTSVMQPIYE EATLNPKMAA KIERQQRWTR REEADFYRVV STFGVVFDPD
RGQFDWTKFR AMARLHKKTD DSLEKYLYAF MSMCRRVCRL PSKEELVDPN IFIQPITEER
ASRTLYRIEL LRKVREQALR HPQLFERLKL CHPNPDLPVW WECGPHDRDL LIGAAKHGVS
RTDYHILRDP ELSFMAAQRN YSQSKMAHSR TSTPLLQQYQ VALSASPLTS LPRLLDAKGI
ILEEMKVKSE NLKEEPQSSE EESMSSVETR TLIKSEPVSP KNGVLPQATG DQKSGGKCET
DRRMVAARTE PLTPNPASKK PRVHKRGSES SSDSDSDSER SSCSSRSSSS SSSSSCSHSR
SGSSSSSSSS CSSASSSSSS STSSSSSSSS SSSEESDSDE EEAQKRAEST THMKAYDEES
VASLSTTQDE TQDSFQMNNG TPESAYILQG GYMLAASYWP KDRVMINRLD SICQTVLKGK
WPSARRSYDA NTVASFYTTK LLDSPGAATE YSDPSVPTPP GAGVKEEHDQ STQMSKEGGL
KLTFQKQGLA QKRPFDGEDG ALGQQQYLTR LRELQSASET SLVNFPKSIP VSGTSIQPTL
GANGVILDNQ PIVKKRRGRR KNVEGVDIFF FNRNKPPNHV SLGLTSSQIS TGINPALSYT
QPQGIPDTES PVPVINLKDG TRLAGDDAPK RKDLEKWLKE HPGYVEDLGA FIPRMQLHEG
RPKQKRHRCR NPNKLDVNSL TGEERVQLIN RRNARKVGGA FAPPLKDLCR FLKENSEYGV
APEWGDVVKQ SGFLPESMYE RILTGPVVRE EVSRRGRRPK SGIAKATAAA AAASATSVSG
NPLLANGLLP GVDLTTLQAL QQNLQNLQSL QVTAGLMGMP TGLPSGGEAK NMAAMFPMLL
SGMAGLPNLL GMGGLLTKPT ESGTEDKKGS DSKESEGKTE RTESQSSENG GENSVSSSPS
ASSTAALNTA AAANPLALNP LLLSNILYPG MLLTPGLNLH IPTLSQSNTF DVQNKNSDLG
SSKSVEVKEE DSRIKDQEDK GGTEPSPLNE NSTDEGSEKA DASSGSDSTS SSSEDSDSSN
ED*
speed 0.48 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
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