| Transcript | Gene symbol | Prediction | Tree vote | Model | Prediction problem | Splice site change | Known ClinVar disease mutation | Potential ClinVar disease mutation | Amino acid changes | Variant type | dbSNP ID | Protein length | Features at a glance |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENST00000367797(MANE Select) | F5 | Deleterious | 84|16 | simple_ | No | Single base exchange | Normal |
| |||||
| F5 | Deleterious | 87|13 | simple_ | No | Single base exchange | Normal |
|
| Analysed issue | Analysis result | |||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr1:169549811C>A (GRCh38) | |||||||||||||||||||||||||||||||
| Gene symbol | F5 | |||||||||||||||||||||||||||||||
| Gene constraints | LOEUF: 0.70, LOF (oe): 0.61, misssense (oe): 0.85, synonymous (oe): 0.94 (gnomAD) | |||||||||||||||||||||||||||||||
| Ensembl transcript ID | ENST00000367797.9 | |||||||||||||||||||||||||||||||
| Genbank transcript ID | NM_000130 (exact from MANE) | |||||||||||||||||||||||||||||||
| UniProt / AlphaMissense peptide | FA5_HUMAN | AlphaMissense: transcript, gene | |||||||||||||||||||||||||||||||
| Variant type | Single base exchange | |||||||||||||||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||||||||||||||
| DNA changes | c.1601G>T g.36778G>T | |||||||||||||||||||||||||||||||
| AA changes |
| |||||||||||||||||||||||||||||||
| Frameshift | No | |||||||||||||||||||||||||||||||
| Length of protein | Normal | |||||||||||||||||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||||||||||||||||||||
| Variant DBs |
| |||||||||||||||||||||||||||||||
| Protein conservation | ||||||||||||||||||||||||||||||||
| Protein features |
| |||||||||||||||||||||||||||||||
| Phylogenetic conservation |
| |||||||||||||||||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||||||||||||||||||||
| Distance from splice site | 11 | |||||||||||||||||||||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||||||||||||||||||||
| poly(A) signal | N/A | |||||||||||||||||||||||||||||||
| AA sequence altered | Yes | |||||||||||||||||||||||||||||||
| Chromosome | 1 | |||||||||||||||||||||||||||||||
| Strand | -1 | |||||||||||||||||||||||||||||||
| Original gDNA sequence snippet | GAGCAGATCCCTGGACAGGCGAGGAATACAGGTATTTTGTC | |||||||||||||||||||||||||||||||
| Altered gDNA sequence snippet | GAGCAGATCCCTGGACAGGCTAGGAATACAGGTATTTTGTC | |||||||||||||||||||||||||||||||
| Original cDNA sequence snippet | GAGCAGATCCCTGGACAGGCGAGGAATACAGAGGGCAGCAG | |||||||||||||||||||||||||||||||
| Altered cDNA sequence snippet | GAGCAGATCCCTGGACAGGCTAGGAATACAGAGGGCAGCAG | |||||||||||||||||||||||||||||||
| Wildtype AA sequence | MFPGCPRLWV LVVLGTSWVG WGSQGTEAAQ LRQFYVAAQG ISWSYRPEPT NSSLNLSVTS FKKIVYREYE PYFKKEKPQS TISGLLGPTL YAEVGDIIKV HFKNKADKPL SIHPQGIRYS KLSEGASYLD HTFPAEKMDD AVAPGREYTY EWSISEDSGP THDDPPCLTH IYYSHENLIE DFNSGLIGPL LICKKGTLTE GGTQKTFDKQ IVLLFAVFDE SKSWSQSSSL MYTVNGYVNG TMPDITVCAH DHISWHLLGM SSGPELFSIH FNGQVLEQNH HKVSAITLVS ATSTTANMTV GPEGKWIISS LTPKHLQAGM QAYIDIKNCP KKTRNLKKIT REQRRHMKRW EYFIAAEEVI WDYAPVIPAN MDKKYRSQHL DNFSNQIGKH YKKVMYTQYE DESFTKHTVN PNMKEDGILG PIIRAQVRDT LKIVFKNMAS RPYSIYPHGV TFSPYEDEVN SSFTSGRNNT MIRAVQPGET YTYKWNILEF DEPTENDAQC LTRPYYSDVD IMRDIASGLI GLLLICKSRS LDRRGIQRAA DIEQQAVFAV FDENKSWYLE DNINKFCENP DEVKRDDPKF YESNIMSTIN GYVPESITTL GFCFDDTVQW HFCSVGTQNE ILTIHFTGHS FIYGKRHEDT LTLFPMRGES VTVTMDNVGT WMLTSMNSSP RSKKLRLKFR DVKCIPDDDE DSYEIFEPPE STVMATRKMH DRLEPEDEES DADYDYQNRL AAALGIRSFR NSSLNQEEEE FNLTALALEN GTEFVSSNTD IIVGSNYSSP SNISKFTVNN LAEPQKAPSH QQATTAGSPL RHLIGKNSVL NSSTAEHSSP YSEDPIEDPL QPDVTGIRLL SLGAGEFKSQ EHAKHKGPKV ERDQAAKHRF SWMKLLAHKV GRHLSQDTGS PSGMRPWEDL PSQDTGSPSR MRPWKDPPSD LLLLKQSNSS KILVGRWHLA SEKGSYEIIQ DTDEDTAVNN WLISPQNASR AWGESTPLAN KPGKQSGHPK FPRVRHKSLQ VRQDGGKSRL KKSQFLIKTR KKKKEKHTHH APLSPRTFHP LRSEAYNTFS ERRLKHSLVL HKSNETSLPT DLNQTLPSMD FGWIASLPDH NQNSSNDTGQ ASCPPGLYQT VPPEEHYQTF PIQDPDQMHS TSDPSHRSSS PELSEMLEYD RSHKSFPTDI SQMSPSSEHE VWQTVISPDL SQVTLSPELS QTNLSPDLSH TTLSPELIQR NLSPALGQMP ISPDLSHTTL SPDLSHTTLS LDLSQTNLSP ELSQTNLSPA LGQMPLSPDL SHTTLSLDFS QTNLSPELSH MTLSPELSQT NLSPALGQMP ISPDLSHTTL SLDFSQTNLS PELSQTNLSP ALGQMPLSPD PSHTTLSLDL SQTNLSPELS QTNLSPDLSE MPLFADLSQI PLTPDLDQMT LSPDLGETDL SPNFGQMSLS PDLSQVTLSP DISDTTLLPD LSQISPPPDL DQIFYPSESS QSLLLQEFNE SFPYPDLGQM PSPSSPTLND TFLSKEFNPL VIVGLSKDGT DYIEIIPKEE VQSSEDDYAE IDYVPYDDPY KTDVRTNINS SRDPDNIAAW YLRSNNGNRR NYYIAAEEIS WDYSEFVQRE TDIEDSDDIP EDTTYKKVVF RKYLDSTFTK RDPRGEYEEH LGILGPIIRA EVDDVIQVRF KNLASRPYSL HAHGLSYEKS SEGKTYEDDS PEWFKEDNAV QPNSSYTYVW HATERSGPES PGSACRAWAY YSAVNPEKDI HSGLIGPLLI CQKGILHKDS NMPMDMREFV LLFMTFDEKK SWYYEKKSRS SWRLTSSEMK KSHEFHAING MIYSLPGLKM YEQEWVRLHL LNIGGSQDIH VVHFHGQTLL ENGNKQHQLG VWPLLPGSFK TLEMKASKPG WWLLNTEVGE NQRAGMQTPF LIMDRDCRMP MGLSTGIISD SQIKASEFLG YWEPRLARLN NGGSYNAWSV EKLAAEFASK PWIQVDMQKE VIITGIQTQG AKHYLKSCYT TEFYVAYSSN QINWQIFKGN STRNVMYFNG NSDASTIKEN QFDPPIVARY IRISPTRAYN RPTLRLELQG CEVNGCSTPL GMENGKIENK QITASSFKKS WWGDYWEPFR ARLNAQGRVN AWQAKANNNK QWLEIDLLKI KKITAIITQG CKSLSSEMYV KSYTIHYSEQ GVEWKPYRLK SSMVDKIFEG NTNTKGHVKN FFNPPIISRF IRVIPKTWNQ SIALRLELFG CDIY* | |||||||||||||||||||||||||||||||
| Mutated AA sequence | MFPGCPRLWV LVVLGTSWVG WGSQGTEAAQ LRQFYVAAQG ISWSYRPEPT NSSLNLSVTS FKKIVYREYE PYFKKEKPQS TISGLLGPTL YAEVGDIIKV HFKNKADKPL SIHPQGIRYS KLSEGASYLD HTFPAEKMDD AVAPGREYTY EWSISEDSGP THDDPPCLTH IYYSHENLIE DFNSGLIGPL LICKKGTLTE GGTQKTFDKQ IVLLFAVFDE SKSWSQSSSL MYTVNGYVNG TMPDITVCAH DHISWHLLGM SSGPELFSIH FNGQVLEQNH HKVSAITLVS ATSTTANMTV GPEGKWIISS LTPKHLQAGM QAYIDIKNCP KKTRNLKKIT REQRRHMKRW EYFIAAEEVI WDYAPVIPAN MDKKYRSQHL DNFSNQIGKH YKKVMYTQYE DESFTKHTVN PNMKEDGILG PIIRAQVRDT LKIVFKNMAS RPYSIYPHGV TFSPYEDEVN SSFTSGRNNT MIRAVQPGET YTYKWNILEF DEPTENDAQC LTRPYYSDVD IMRDIASGLI GLLLICKSRS LDRLGIQRAA DIEQQAVFAV FDENKSWYLE DNINKFCENP DEVKRDDPKF YESNIMSTIN GYVPESITTL GFCFDDTVQW HFCSVGTQNE ILTIHFTGHS FIYGKRHEDT LTLFPMRGES VTVTMDNVGT WMLTSMNSSP RSKKLRLKFR DVKCIPDDDE DSYEIFEPPE STVMATRKMH DRLEPEDEES DADYDYQNRL AAALGIRSFR NSSLNQEEEE FNLTALALEN GTEFVSSNTD IIVGSNYSSP SNISKFTVNN LAEPQKAPSH QQATTAGSPL RHLIGKNSVL NSSTAEHSSP YSEDPIEDPL QPDVTGIRLL SLGAGEFKSQ EHAKHKGPKV ERDQAAKHRF SWMKLLAHKV GRHLSQDTGS PSGMRPWEDL PSQDTGSPSR MRPWKDPPSD LLLLKQSNSS KILVGRWHLA SEKGSYEIIQ DTDEDTAVNN WLISPQNASR AWGESTPLAN KPGKQSGHPK FPRVRHKSLQ VRQDGGKSRL KKSQFLIKTR KKKKEKHTHH APLSPRTFHP LRSEAYNTFS ERRLKHSLVL HKSNETSLPT DLNQTLPSMD FGWIASLPDH NQNSSNDTGQ ASCPPGLYQT VPPEEHYQTF PIQDPDQMHS TSDPSHRSSS PELSEMLEYD RSHKSFPTDI SQMSPSSEHE VWQTVISPDL SQVTLSPELS QTNLSPDLSH TTLSPELIQR NLSPALGQMP ISPDLSHTTL SPDLSHTTLS LDLSQTNLSP ELSQTNLSPA LGQMPLSPDL SHTTLSLDFS QTNLSPELSH MTLSPELSQT NLSPALGQMP ISPDLSHTTL SLDFSQTNLS PELSQTNLSP ALGQMPLSPD PSHTTLSLDL SQTNLSPELS QTNLSPDLSE MPLFADLSQI PLTPDLDQMT LSPDLGETDL SPNFGQMSLS PDLSQVTLSP DISDTTLLPD LSQISPPPDL DQIFYPSESS QSLLLQEFNE SFPYPDLGQM PSPSSPTLND TFLSKEFNPL VIVGLSKDGT DYIEIIPKEE VQSSEDDYAE IDYVPYDDPY KTDVRTNINS SRDPDNIAAW YLRSNNGNRR NYYIAAEEIS WDYSEFVQRE TDIEDSDDIP EDTTYKKVVF RKYLDSTFTK RDPRGEYEEH LGILGPIIRA EVDDVIQVRF KNLASRPYSL HAHGLSYEKS SEGKTYEDDS PEWFKEDNAV QPNSSYTYVW HATERSGPES PGSACRAWAY YSAVNPEKDI HSGLIGPLLI CQKGILHKDS NMPMDMREFV LLFMTFDEKK SWYYEKKSRS SWRLTSSEMK KSHEFHAING MIYSLPGLKM YEQEWVRLHL LNIGGSQDIH VVHFHGQTLL ENGNKQHQLG VWPLLPGSFK TLEMKASKPG WWLLNTEVGE NQRAGMQTPF LIMDRDCRMP MGLSTGIISD SQIKASEFLG YWEPRLARLN NGGSYNAWSV EKLAAEFASK PWIQVDMQKE VIITGIQTQG AKHYLKSCYT TEFYVAYSSN QINWQIFKGN STRNVMYFNG NSDASTIKEN QFDPPIVARY IRISPTRAYN RPTLRLELQG CEVNGCSTPL GMENGKIENK QITASSFKKS WWGDYWEPFR ARLNAQGRVN AWQAKANNNK QWLEIDLLKI KKITAIITQG CKSLSSEMYV KSYTIHYSEQ GVEWKPYRLK SSMVDKIFEG NTNTKGHVKN FFNPPIISRF IRVIPKTWNQ SIALRLELFG CDIY* | |||||||||||||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 6675 / 6675 | |||||||||||||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2225 / 2225 | |||||||||||||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 6770 / 6770 | |||||||||||||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 96 / 96 | |||||||||||||||||||||||||||||||
| Last intron/exon boundary | 6623 | |||||||||||||||||||||||||||||||
| Theoretical NMD boundary in CDS | 6477 | |||||||||||||||||||||||||||||||
| Length of CDS | 6675 | |||||||||||||||||||||||||||||||
| Coding sequence (CDS) position | 1601 | |||||||||||||||||||||||||||||||
| cDNA position | 1696 | |||||||||||||||||||||||||||||||
| gDNA position | 36778 | |||||||||||||||||||||||||||||||
| Chromosomal position | 169549811 | |||||||||||||||||||||||||||||||
| Speed | 0.36 s | |||||||||||||||||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr1:169549811C>A (GRCh38) | |||||||||||||
| Gene symbol | F5 | |||||||||||||
| Gene constraints | LOEUF: 0.71, LOF (oe): 0.61, misssense (oe): 0.85, synonymous (oe): 0.94 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000367796.3 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1601G>T g.36778G>T | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 11 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GAGCAGATCCCTGGACAGGCGAGGAATACAGGTATTTTGTC | |||||||||||||
| Altered gDNA sequence snippet | GAGCAGATCCCTGGACAGGCTAGGAATACAGGTATTTTGTC | |||||||||||||
| Original cDNA sequence snippet | GAGCAGATCCCTGGACAGGCGAGGAATACAGAGGGCAGCAG | |||||||||||||
| Altered cDNA sequence snippet | GAGCAGATCCCTGGACAGGCTAGGAATACAGAGGGCAGCAG | |||||||||||||
| Wildtype AA sequence | MFPGCPRLWV LVVLGTSWVG WGSQGTEAAQ LRQFYVAAQG ISWSYRPEPT NSSLNLSVTS FKKIVYREYE PYFKKEKPQS TISGLLGPTL YAEVGDIIKV HFKNKADKPL SIHPQGIRYS KLSEGASYLD HTFPAEKMDD AVAPGREYTY EWSISEDSGP THDDPPCLTH IYYSHENLIE DFNSGLIGPL LICKKGTLTE GGTQKTFDKQ IVLLFAVFDE SKSWSQSSSL MYTVNGYVNG TMPDITVCAH DHISWHLLGM SSGPELFSIH FNGQVLEQNH HKVSAITLVS ATSTTANMTV GPEGKWIISS LTPKHLQAGM QAYIDIKNCP KKTRNLKKIT REQRRHMKRW EYFIAAEEVI WDYAPVIPAN MDKKYRSQHL DNFSNQIGKH YKKVMYTQYE DESFTKHTVN PNMKEDGILG PIIRAQVRDT LKIVFKNMAS RPYSIYPHGV TFSPYEDEVN SSFTSGRNNT MIRAVQPGET YTYKWNILEF DEPTENDAQC LTRPYYSDVD IMRDIASGLI GLLLICKSRS LDRRGIQRAA DIEQQAVFAV FDENKSWYLE DNINKFCENP DEVKRDDPKF YESNIMSNFT LSAINGYVPE SITTLGFCFD DTVQWHFCSV GTQNEILTIH FTGHSFIYGK RHEDTLTLFP MRGESVTVTM DNVGTWMLTS MNSSPRSKKL RLKFRDVKCI PDDDEDSYEI FEPPESTVMA TRKMHDRLEP EDEESDADYD YQNRLAAALG IRSFRNSSLN QEEEEFNLTA LALENGTEFV SSNTDIIVGS NYSSPSNISK FTVNNLAEPQ KAPSHQQATT AGSPLRHLIG KNSVLNSSTA EHSSPYSEDP IEDPLQPDVT GIRLLSLGAG EFKSQEHAKH KGPKVERDQA AKHRFSWMKL LAHKVGRHLS QDTGSPSGMR PWEDLPSQDT GSPSRMRPWK DPPSDLLLLK QSNSSKILVG RWHLASEKGS YEIIQDTDED TAVNNWLISP QNASRAWGES TPLANKPGKQ SGHPKFPRVR HKSLQVRQDG GKSRLKKSQF LIKTRKKKKE KHTHHAPLSP RTFHPLRSEA YNTFSERRLK HSLVLHKSNE TSLPTDLNQT LPSMDFGWIA SLPDHNQNSS NDTGQASCPP GLYQTVPPEE HYQTFPIQDP DQMHSTSDPS HRSSSPELSE MLEYDRSHKS FPTDISQMSP SSEHEVWQTV ISPDLSQVTL SPELSQTNLS PDLSHTTLSP ELIQRNLSPA LGQMPISPDL SHTTLSPDLS HTTLSLDLSQ TNLSPELSQT NLSPALGQMP LSPDLSHTTL SLDFSQTNLS PELSHMTLSP ELSQTNLSPA LGQMPISPDL SHTTLSLDFS QTNLSPELSQ TNLSPALGQM PLSPDPSHTT LSLDLSQTNL SPELSQTNLS PDLSEMPLFA DLSQIPLTPD LDQMTLSPDL GETDLSPNFG QMSLSPDLSQ VTLSPDISDT TLLPDLSQIS PPPDLDQIFY PSESSQSLLL QEFNESFPYP DLGQMPSPSS PTLNDTFLSK EFNPLVIVGL SKDGTDYIEI IPKEEVQSSE DDYAEIDYVP YDDPYKTDVR TNINSSRDPD NIAAWYLRSN NGNRRNYYIA AEEISWDYSE FVQRETDIED SDDIPEDTTY KKVVFRKYLD STFTKRDPRG EYEEHLGILG PIIRAEVDDV IQVRFKNLAS RPYSLHAHGL SYEKSSEGKT YEDDSPEWFK EDNAVQPNSS YTYVWHATER SGPESPGSAC RAWAYYSAVN PEKDIHSGLI GPLLICQKGI LHKDSNMPMD MREFVLLFMT FDEKKSWYYE KKSRSSWRLT SSEMKKSHEF HAINGMIYSL PGLKMYEQEW VRLHLLNIGG SQDIHVVHFH GQTLLENGNK QHQLGVWPLL PGSFKTLEMK ASKPGWWLLN TEVGENQRAG MQTPFLIMDR DCRMPMGLST GIISDSQIKA SEFLGYWEPR LARLNNGGSY NAWSVEKLAA EFASKPWIQV DMQKEVIITG IQTQGAKHYL KSCYTTEFYV AYSSNQINWQ IFKGNSTRNV MYFNGNSDAS TIKENQFDPP IVARYIRISP TRAYNRPTLR LELQGCEVNG CSTPLGMENG KIENKQITAS SFKKSWWGDY WEPFRARLNA QGRVNAWQAK ANNNKQWLEI DLLKIKKITA IITQGCKSLS SEMYVKSYTI HYSEQGVEWK PYRLKSSMVD KIFEGNTNTK GHVKNFFNPP IISRFIRVIP KTWNQSIALR LELFGCDIY* | |||||||||||||
| Mutated AA sequence | MFPGCPRLWV LVVLGTSWVG WGSQGTEAAQ LRQFYVAAQG ISWSYRPEPT NSSLNLSVTS FKKIVYREYE PYFKKEKPQS TISGLLGPTL YAEVGDIIKV HFKNKADKPL SIHPQGIRYS KLSEGASYLD HTFPAEKMDD AVAPGREYTY EWSISEDSGP THDDPPCLTH IYYSHENLIE DFNSGLIGPL LICKKGTLTE GGTQKTFDKQ IVLLFAVFDE SKSWSQSSSL MYTVNGYVNG TMPDITVCAH DHISWHLLGM SSGPELFSIH FNGQVLEQNH HKVSAITLVS ATSTTANMTV GPEGKWIISS LTPKHLQAGM QAYIDIKNCP KKTRNLKKIT REQRRHMKRW EYFIAAEEVI WDYAPVIPAN MDKKYRSQHL DNFSNQIGKH YKKVMYTQYE DESFTKHTVN PNMKEDGILG PIIRAQVRDT LKIVFKNMAS RPYSIYPHGV TFSPYEDEVN SSFTSGRNNT MIRAVQPGET YTYKWNILEF DEPTENDAQC LTRPYYSDVD IMRDIASGLI GLLLICKSRS LDRLGIQRAA DIEQQAVFAV FDENKSWYLE DNINKFCENP DEVKRDDPKF YESNIMSNFT LSAINGYVPE SITTLGFCFD DTVQWHFCSV GTQNEILTIH FTGHSFIYGK RHEDTLTLFP MRGESVTVTM DNVGTWMLTS MNSSPRSKKL RLKFRDVKCI PDDDEDSYEI FEPPESTVMA TRKMHDRLEP EDEESDADYD YQNRLAAALG IRSFRNSSLN QEEEEFNLTA LALENGTEFV SSNTDIIVGS NYSSPSNISK FTVNNLAEPQ KAPSHQQATT AGSPLRHLIG KNSVLNSSTA EHSSPYSEDP IEDPLQPDVT GIRLLSLGAG EFKSQEHAKH KGPKVERDQA AKHRFSWMKL LAHKVGRHLS QDTGSPSGMR PWEDLPSQDT GSPSRMRPWK DPPSDLLLLK QSNSSKILVG RWHLASEKGS YEIIQDTDED TAVNNWLISP QNASRAWGES TPLANKPGKQ SGHPKFPRVR HKSLQVRQDG GKSRLKKSQF LIKTRKKKKE KHTHHAPLSP RTFHPLRSEA YNTFSERRLK HSLVLHKSNE TSLPTDLNQT LPSMDFGWIA SLPDHNQNSS NDTGQASCPP GLYQTVPPEE HYQTFPIQDP DQMHSTSDPS HRSSSPELSE MLEYDRSHKS FPTDISQMSP SSEHEVWQTV ISPDLSQVTL SPELSQTNLS PDLSHTTLSP ELIQRNLSPA LGQMPISPDL SHTTLSPDLS HTTLSLDLSQ TNLSPELSQT NLSPALGQMP LSPDLSHTTL SLDFSQTNLS PELSHMTLSP ELSQTNLSPA LGQMPISPDL SHTTLSLDFS QTNLSPELSQ TNLSPALGQM PLSPDPSHTT LSLDLSQTNL SPELSQTNLS PDLSEMPLFA DLSQIPLTPD LDQMTLSPDL GETDLSPNFG QMSLSPDLSQ VTLSPDISDT TLLPDLSQIS PPPDLDQIFY PSESSQSLLL QEFNESFPYP DLGQMPSPSS PTLNDTFLSK EFNPLVIVGL SKDGTDYIEI IPKEEVQSSE DDYAEIDYVP YDDPYKTDVR TNINSSRDPD NIAAWYLRSN NGNRRNYYIA AEEISWDYSE FVQRETDIED SDDIPEDTTY KKVVFRKYLD STFTKRDPRG EYEEHLGILG PIIRAEVDDV IQVRFKNLAS RPYSLHAHGL SYEKSSEGKT YEDDSPEWFK EDNAVQPNSS YTYVWHATER SGPESPGSAC RAWAYYSAVN PEKDIHSGLI GPLLICQKGI LHKDSNMPMD MREFVLLFMT FDEKKSWYYE KKSRSSWRLT SSEMKKSHEF HAINGMIYSL PGLKMYEQEW VRLHLLNIGG SQDIHVVHFH GQTLLENGNK QHQLGVWPLL PGSFKTLEMK ASKPGWWLLN TEVGENQRAG MQTPFLIMDR DCRMPMGLST GIISDSQIKA SEFLGYWEPR LARLNNGGSY NAWSVEKLAA EFASKPWIQV DMQKEVIITG IQTQGAKHYL KSCYTTEFYV AYSSNQINWQ IFKGNSTRNV MYFNGNSDAS TIKENQFDPP IVARYIRISP TRAYNRPTLR LELQGCEVNG CSTPLGMENG KIENKQITAS SFKKSWWGDY WEPFRARLNA QGRVNAWQAK ANNNKQWLEI DLLKIKKITA IITQGCKSLS SEMYVKSYTI HYSEQGVEWK PYRLKSSMVD KIFEGNTNTK GHVKNFFNPP IISRFIRVIP KTWNQSIALR LELFGCDIY* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 6690 / 6690 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2230 / 2230 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 6892 / 6892 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 203 / 203 | |||||||||||||
| Last intron/exon boundary | 6745 | |||||||||||||
| Theoretical NMD boundary in CDS | 6492 | |||||||||||||
| Length of CDS | 6690 | |||||||||||||
| Coding sequence (CDS) position | 1601 | |||||||||||||
| cDNA position | 1803 | |||||||||||||
| gDNA position | 36778 | |||||||||||||
| Chromosomal position | 169549811 | |||||||||||||
| Speed | 0.36 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project