| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENST00000405460(MANE Select) | ADGRV1 | Deleterious | 67|33 | simple_ | No | Single base exchange | Normal |
|
| Analysed issue | Analysis result | ||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr5:90763312T>C (GRCh38) | ||||||||||||||||||||||||||
| Gene symbol | ADGRV1 | ||||||||||||||||||||||||||
| Gene constraints | LOEUF: 0.64, LOF (oe): 0.57, misssense (oe): 0.92, synonymous (oe): 0.96 (gnomAD) | ||||||||||||||||||||||||||
| Ensembl transcript ID | ENST00000405460.9 | ||||||||||||||||||||||||||
| Genbank transcript ID | NM_032119 (exact from MANE) | ||||||||||||||||||||||||||
| UniProt / AlphaMissense peptide | AGRV1_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||||||||||||
| Gene region | CDS | ||||||||||||||||||||||||||
| DNA changes | c.12128T>C g.233969T>C | ||||||||||||||||||||||||||
| 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 | 8 | ||||||||||||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||||||||||||
| Chromosome | 5 | ||||||||||||||||||||||||||
| Strand | 1 | ||||||||||||||||||||||||||
| Original gDNA sequence snippet | TTTCTTCTTTCAGGTAATGATTGATGAATCCCTTTCATCCG | ||||||||||||||||||||||||||
| Altered gDNA sequence snippet | TTTCTTCTTTCAGGTAATGACTGATGAATCCCTTTCATCCG | ||||||||||||||||||||||||||
| Original cDNA sequence snippet | TGAAGAAAAGACTGTAATGATTGATGAATCCCTTTCATCCG | ||||||||||||||||||||||||||
| Altered cDNA sequence snippet | TGAAGAAAAGACTGTAATGACTGATGAATCCCTTTCATCCG | ||||||||||||||||||||||||||
| Wildtype AA sequence | MSVFLGPGMP SASLLVNLLS ALLILFVFGE TEIRFTGQTE FVVNETSTTV IRLIIERIGE PANVTAIVSL YGEDAGDFFD TYAAAFIPAG ETNRTVYIAV CDDDLPEPDE TFIFHLTLQK PSANVKLGWP RTVTVTILSN DNAFGIISFN MLPSIAVSEP KGRNESMPLT LIREKGTYGM VMVTFEVEGG PNPPDEDLSP VKGNITFPPG RATVIYNLTV LDDEVPENDE IFLIQLKSVE GGAEINTSRN SIEIIIKKND SPVRFLQSIY LVPEEDHILI IPVVRGKDNN GNLIGSDEYE VSISYAVTTG NSTAHAQQNL DFIDLQPNTT VVFPPFIHES HLKFQIVDDT IPEIAESFHI MLLKDTLQGD AVLISPSVVQ VTIKPNDKPY GVLSFNSVLF ERTVIIDEDR ISRYEEITVV RNGGTHGNVS ANWVLTRNST DPSPVTADIR PSSGVLHFAQ GQMLATIPLT VVDDDLPEEA EAYLLQILPH TIRGGAEVSE PAELLFYIQD SDDVYGLITF FPMENQKIES SPGERYLSLS FTRLGGTKGD VRLLYSVLYI PAGAVDPLQA KEGILNISRR NDLIFPEQKT QVTTKLPIRN DAFLQNGAHF LVQLETVELL NIIPLIPPIS PRFGEICNIS LLVTPAIANG EIGFLSNLPI ILHEPEDFAA EVVYIPLHRD GTDGQATVYW SLKPSGFNSK AVTPDDIGPF NGSVLFLSGQ SDTTINITIK GDDIPEMNET VTLSLDRVNV ENQVLKSGYT SRDLIILEND DPGGVFEFSP ASRGPYVIKE GESVELHIIR SRGSLVKQFL HYRVEPRDSN EFYGNTGVLE FKPGEREIVI TLLARLDGIP ELDEHYWVVL SSHGERESKL GSATIVNITI LKNDDPHGII EFVSDGLIVM INESKGDAIY SAVYDVVRNR GNFGDVSVSW VVSPDFTQDV FPVQGTVVFG DQEFSKNITI YSLPDEIPEE MEEFTVILLN GTGGAKVGNR TTATLRIRRN DDPIYFAEPR VVRVQEGETA NFTVLRNGSV DVTCMVQYAT KDGKATARER DFIPVEKGET LIFEVGSRQQ SISIFVNEDG IPETDEPFYI ILLNSTGDTV VYQYGVATVI IEANDDPNGI FSLEPIDKAV EEGKTNAFWI LRHRGYFGSV SVSWQLFQND SALQPGQEFY ETSGTVNFMD GEEAKPIILH AFPDKIPEFN EFYFLKLVNI SGGSPGPGGQ LAETNLQVTV MVPFNDDPFG VFILDPECLE REVAEDVLSE DDMSYITNFT ILRQQGVFGD VQLGWEILSS EFPAGLPPMI DFLLVGIFPT TVHLQQHMRR HHSGTDALYF TGLEGAFGTV NPKYHPSRNN TIANFTFSAW VMPNANTNGF IIAKDDGNGS IYYGVKIQTN ESHVTLSLHY KTLGSNATYI AKTTVMKYLE ESVWLHLLII LEDGIIEFYL DGNAMPRGIK SLKGEAITDG PGILRIGAGI NGNDRFTGLM QDVRSYERKL TLEEIYELHA MPAKSDLHPI SGYLEFRQGE TNKSFIISAR DDNDEEGEEL FILKLVSVYG GARISEENTT ARLTIQKSDN ANGLFGFTGA CIPEIAEEGS TISCVVERTR GALDYVHVFY TISQIETDGI NYLVDDFANA SGTITFLPWQ RSEVLNIYVL DDDIPELNEY FRVTLVSAIP GDGKLGSTPT SGASIDPEKE TTDITIKASD HPYGLLQFST GLPPQPKDAM TLPASSVPHI TVEEEDGEIR LLVIRAQGLL GRVTAEFRTV SLTAFSPEDY QNVAGTLEFQ PGERYKYIFI NITDNSIPEL EKSFKVELLN LEGGVAELFR VDGSGSGDGD MEFFLPTIHK RASLGVASQI LVTIAASDHA HGVFEFSPES LFVSGTEPED GYSTVTLNVI RHHGTLSPVT LHWNIDSDPD GDLAFTSGNI TFEIGQTSAN ITVEILPDED PELDKAFSVS VLSVSSGSLG AHINATLTVL ASDDPYGIFI FSEKNRPVKV EEATQNITLS IIRLKGLMGK VLVSYATLDD MEKPPYFPPN LARATQGRDY IPASGFALFG ANQSEATIAI SILDDDEPER SESVFIELLN STLVAKVQSR SIPNSPRLGP KVETIAQLII IANDDAFGTL QLSAPIVRVA ENHVGPIINV TRTGGAFADV SVKFKAVPIT AIAGEDYSIA SSDVVLLEGE TSKAVPIYVI NDIYPELEES FLVQLMNETT GGARLGALTE AVIIIEASDD PYGLFGFQIT KLIVEEPEFN SVKVNLPIIR NSGTLGNVTV QWVATINGQL ATGDLRVVSG NVTFAPGETI QTLLLEVLAD DVPEIEEVIQ VQLTDASGGG TIGLDRIANI IIPANDDPYG TVAFAQMVYR VQEPLERSSC ANITVRRSGG HFGRLLLFYS TSDIDVVALA MEEGQDLLSY YESPIQGVPD PLWRTWMNVS AVGEPLYTCA TLCLKEQACS AFSFFSASEG PQCFWMTSWI SPAVNNSDFW TYRKNMTRVA SLFSGQAVAG SDYEPVTRQW AIMQEGDEFA NLTVSILPDD FPEMDESFLI SLLEVHLMNI SASLKNQPTI GQPNISTVVI ALNGDAFGVF VIYNISPNTS EDGLFVEVQE QPQTLVELMI HRTGGSLGQV AVEWRVVGGT ATEGLDFIGA GEILTFAEGE TKKTVILTIL DDSEPEDDES IIVSLVYTEG GSRILPSSDT VRVNILANDN VAGIVSFQTA SRSVIGHEGE ILQFHVIRTF PGRGNVTVNW KIIGQNLELN FANFSGQLFF PEGSLNTTLF VHLLDDNIPE EKEVYQVILY DVRTQGVPPA GIALLDAQGY AAVLTVEASD EPHGVLNFAL SSRFVLLQEA NITIQLFINR EFGSLGAINV TYTTVPGMLS LKNQTVGNLA EPEVDFVPII GFLILEEGET AAAINITILE DDVPELEEYF LVNLTYVGLT MAASTSFPPR LDSEGLTAQV IIDANDGARG VIEWQQSRFE VNETHGSLTL VAQRSREPLG HVSLFVYAQN LEAQVGLDYI FTPMILHFAD GERYKNVNIM ILDDDIPEGD EKFQLILTNP SPGLELGKNT IALIIVLAND DGPGVLSFNN SEHFFLREPT ALYVQESVAV LYIVREPAQG LFGTVTVQFI VTEVNSSNES KDLTPSKGYI VLEEGVRFKA LQISAILDTE PEMDEYFVCT LFNPTGGARL GVHVQTLITV LQNQAPLGLF SISAVENRAT SIDIEEANRT VYLNVSRTNG IDLAVSVQWE TVSETAFGMR GMDVVFSVFQ SFLDESASGW CFFTLENLIY GIMLRKSSVT VYRWQGIFIP VEDLNIENPK TCEAFNIGFS PYFVITHEER NEEKPSLNSV FTFTSGFKLF LVQTIIILES SQVRYFTSDS QDYLIIASQR DDSELTQVFR WNGGSFVLHQ KLPVRGVLTV ALFNKGGSVF LAISQANARL NSLLFRWSGS GFINFQEVPV SGTTEVEALS SANDIYLIFA ENVFLGDQNS IDIFIWEMGQ SSFRYFQSVD FAAVNRIHSF TPASGIAHIL LIGQDMSALY CWNSERNQFS FVLEVPSAYD VASVTVKSLN SSKNLIALVG AHSHIYELAY ISSHSDFIPS SGELIFEPGE REATIAVNIL DDTVPEKEES FKVQLKNPKG GAEIGINDSV TITILSNDDA YGIVAFAQNS LYKQVEEMEQ DSLVTLNVER LKGTYGRITI AWEADGSISD IFPTSGVILF TEGQVLSTIT LTILADNIPE LSEVVIVTLT RITTEGVEDS YKGATIDQDR SKSVITTLPN DSPFGLVGWR AASVFIRVAE PKENTTTLQL QIARDKGLLG DIAIHLRAQP NFLLHVDNQA TENEDYVLQE TIIIMKENIK EAHAEVSILP DDLPELEEGF IVTITEVNLV NSDFSTGQPS VRRPGMEIAE IMIEENDDPR GIFMFHVTRG AGEVITAYEV PPPLNVLQVP VVRLAGSFGA VNVYWKASPD SAGLEDFKPS HGILEFADKQ VTAMIEITII DDAEFELTET FNISLISVAG GGRLGDDVVV TVVIPQNDSP FGVFGFEEKT VMIDESLSSD DPDSYVTLTV VRSPGGKGTV RLEWTIDEKA KHNLSPLNGT LHFDETESQK TIVLHTLQDT VLEEDRRFTI QLISIDEVEI SPVKGSASII IRGDKRASGE VGIAPSSRHI LIGEPSAKYN GTAIISLVRG PGILGEVTVF WRIFPPSVGE FAETSGKLTM RDEQSAVIVV IQALNDDIPE EKSFYEFQLT AVSEGGVLSE SSSTANITVV ASDSPYGRFA FSHEQLRVSE AQRVNITIIR SSGDFGHVRL WYKTMSGTAE AGLDFVPAAG ELLFEAGEMR KSLHVEILDD DYPEGPEEFS LTITKVELQG RGYDFTIQEN GLQIDQPPEI GNISIVRIII MKNDNAEGII EFDPKYTAFE VEEDVGLIMI PVVRLHGTYG YVTADFISQS SSASPGGVDY ILHGSTVTFQ HGQNLSFINI SIIDDNESEF EEPIEILLTG ATGGAVLGRH LVSRIIIAKS DSPFGVIRFL NQSKISIANP NSTMILSLVL ERTGGLLGEI QVNWETVGPN SQEALLPQNR DIADPVSGLF YFGEGEGGVR TIILTIYPHE EIEVEETFII KLHLVKGEAK LDSRAKDVTL TIQEFGDPNG VVQFAPETLS KKTYSEPLAL EGPLLITFFV RRVKGTFGEI MVYWELSSEF DITEDFLSTS GFFTIADGES EASFDVHLLP DEVPEIEEDY VIQLVSVEGG AELDLEKSIT WFSVYANDDP HGVFALYSDR QSILIGQNLI RSIQINITRL AGTFGDVAVG LRISSDHKEQ PIVTENAERQ LVVKDGATYK VDVVPIKNQV FLSLGSNFTL QLVTVMLVGG RFYGMPTILQ EAKSAVLPVS EKAANSQVGF ESTAFQLMNI TAGTSHVMIS RRGTYGALSV AWTTGYAPGL EIPEFIVVGN MTPTLGSLSF SHGEQRKGVF LWTFPSPGWP EAFVLHLSGV QSSAPGGAQL RSGFIVAEIE PMGVFQFSTS SRNIIVSEDT QMIRLHVQRL FGFHSDLIKV SYQTTAGSAK PLEDFEPVQN GELFFQKFQT EVDFEITIIN DQLSEIEEFF YINLTSVEIR GLQKFDVNWS PRLNLDFSVA VITILDNDDL AGMDISFPET TVAVAVDTTL IPVETESTTY LSTSKTTTIL QPTNVVAIVT EATGVSAIPE KLVTLHGTPA VSEKPDVATV TANVSIHGTF SLGPSIVYIE EEMKNGTFNT AEVLIRRTGG FTGNVSITVK TFGERCAQME PNALPFRGIY GISNLTWAVE EEDFEEQTLT LIFLDGERER KVSVQILDDD EPEGQEFFYV FLTNPQGGAQ IVEEKDDTGF AAFAMVIITG SDLHNGIIGF SEESQSGLEL REGAVMRRLH LIVTRQPNRA FEDVKVFWRV TLNKTVVVLQ KDGVNLVEEL QSVSGTTTCT MGQTKCFISI ELKPEKVPQV EVYFFVELYE ATAGAAINNS ARFAQIKILE SDESQSLVYF SVGSRLAVAH KKATLISLQV ARDSGTGLMM SVNFSTQELR SAETIGRTII SPAISGKDFV ITEGTLVFEP GQRSTVLDVI LTPETGSLNS FPKRFQIVLF DPKGGARIDK VYGTANITLV SDADSQAIWG LADQLHQPVN DDILNRVLHT ISMKVATENT DEQLSAMMHL IEKITTEGKI QAFSVASRTL FYEILCSLIN PKRKDTRGFS HFAEVTENFA FSLLTNVTCG SPGEKSKTIL DSCPYLSILA LHWYPQQING HKFEGKEGDY IRIPERLLDV QDAEIMAGKS TCKLVQFTEY SSQQWFISGN NLPTLKNKVL SLSVKGQSSQ LLTNDNEVLY RIYAAEPRII PQTSLCLLWN QAAASWLSDS QFCKVVEETA DYVECACSHM SVYAVYARTD NLSSYNEAFF TSGFICISGL CLAVLSHIFC ARYSMFAAKL LTHMMAASLG TQILFLASAY ASPQLAEESC SAMAAVTHYL YLCQFSWMLI QSVNFWYVLV MNDEHTERRY LLFFLLSWGL PAFVVILLIV ILKGIYHQSM SQIYGLIHGD LCFIPNVYAA LFTAALVPLT CLVVVFVVFI HAYQVKPQWK AYDDVFRGRT NAAEIPLILY LFALISVTWL WGGLHMAYRH FWMLVLFVIF NSLQGLYVFM VYFILHNQMC CPMKASYTVE MNGHPGPSTA FFTPGSGMPP AGGEISKSTQ NLIGAMEEVP PDWERASFQQ GSQASPDLKP SPQNGATFPS SGGYGQGSLI ADEESQEFDD LIFALKTGAG LSVSDNESGQ GSQEGGTLTD SQIVELRRIP IADTHL* | ||||||||||||||||||||||||||
| Mutated AA sequence | MSVFLGPGMP SASLLVNLLS ALLILFVFGE TEIRFTGQTE FVVNETSTTV IRLIIERIGE PANVTAIVSL YGEDAGDFFD TYAAAFIPAG ETNRTVYIAV CDDDLPEPDE TFIFHLTLQK PSANVKLGWP RTVTVTILSN DNAFGIISFN MLPSIAVSEP KGRNESMPLT LIREKGTYGM VMVTFEVEGG PNPPDEDLSP VKGNITFPPG RATVIYNLTV LDDEVPENDE IFLIQLKSVE GGAEINTSRN SIEIIIKKND SPVRFLQSIY LVPEEDHILI IPVVRGKDNN GNLIGSDEYE VSISYAVTTG NSTAHAQQNL DFIDLQPNTT VVFPPFIHES HLKFQIVDDT IPEIAESFHI MLLKDTLQGD AVLISPSVVQ VTIKPNDKPY GVLSFNSVLF ERTVIIDEDR ISRYEEITVV RNGGTHGNVS ANWVLTRNST DPSPVTADIR PSSGVLHFAQ GQMLATIPLT VVDDDLPEEA EAYLLQILPH TIRGGAEVSE PAELLFYIQD SDDVYGLITF FPMENQKIES SPGERYLSLS FTRLGGTKGD VRLLYSVLYI PAGAVDPLQA KEGILNISRR NDLIFPEQKT QVTTKLPIRN DAFLQNGAHF LVQLETVELL NIIPLIPPIS PRFGEICNIS LLVTPAIANG EIGFLSNLPI ILHEPEDFAA EVVYIPLHRD GTDGQATVYW SLKPSGFNSK AVTPDDIGPF NGSVLFLSGQ SDTTINITIK GDDIPEMNET VTLSLDRVNV ENQVLKSGYT SRDLIILEND DPGGVFEFSP ASRGPYVIKE GESVELHIIR SRGSLVKQFL HYRVEPRDSN EFYGNTGVLE FKPGEREIVI TLLARLDGIP ELDEHYWVVL SSHGERESKL GSATIVNITI LKNDDPHGII EFVSDGLIVM INESKGDAIY SAVYDVVRNR GNFGDVSVSW VVSPDFTQDV FPVQGTVVFG DQEFSKNITI YSLPDEIPEE MEEFTVILLN GTGGAKVGNR TTATLRIRRN DDPIYFAEPR VVRVQEGETA NFTVLRNGSV DVTCMVQYAT KDGKATARER DFIPVEKGET LIFEVGSRQQ SISIFVNEDG IPETDEPFYI ILLNSTGDTV VYQYGVATVI IEANDDPNGI FSLEPIDKAV EEGKTNAFWI LRHRGYFGSV SVSWQLFQND SALQPGQEFY ETSGTVNFMD GEEAKPIILH AFPDKIPEFN EFYFLKLVNI SGGSPGPGGQ LAETNLQVTV MVPFNDDPFG VFILDPECLE REVAEDVLSE DDMSYITNFT ILRQQGVFGD VQLGWEILSS EFPAGLPPMI DFLLVGIFPT TVHLQQHMRR HHSGTDALYF TGLEGAFGTV NPKYHPSRNN TIANFTFSAW VMPNANTNGF IIAKDDGNGS IYYGVKIQTN ESHVTLSLHY KTLGSNATYI AKTTVMKYLE ESVWLHLLII LEDGIIEFYL DGNAMPRGIK SLKGEAITDG PGILRIGAGI NGNDRFTGLM QDVRSYERKL TLEEIYELHA MPAKSDLHPI SGYLEFRQGE TNKSFIISAR DDNDEEGEEL FILKLVSVYG GARISEENTT ARLTIQKSDN ANGLFGFTGA CIPEIAEEGS TISCVVERTR GALDYVHVFY TISQIETDGI NYLVDDFANA SGTITFLPWQ RSEVLNIYVL DDDIPELNEY FRVTLVSAIP GDGKLGSTPT SGASIDPEKE TTDITIKASD HPYGLLQFST GLPPQPKDAM TLPASSVPHI TVEEEDGEIR LLVIRAQGLL GRVTAEFRTV SLTAFSPEDY QNVAGTLEFQ PGERYKYIFI NITDNSIPEL EKSFKVELLN LEGGVAELFR VDGSGSGDGD MEFFLPTIHK RASLGVASQI LVTIAASDHA HGVFEFSPES LFVSGTEPED GYSTVTLNVI RHHGTLSPVT LHWNIDSDPD GDLAFTSGNI TFEIGQTSAN ITVEILPDED PELDKAFSVS VLSVSSGSLG AHINATLTVL ASDDPYGIFI FSEKNRPVKV EEATQNITLS IIRLKGLMGK VLVSYATLDD MEKPPYFPPN LARATQGRDY IPASGFALFG ANQSEATIAI SILDDDEPER SESVFIELLN STLVAKVQSR SIPNSPRLGP KVETIAQLII IANDDAFGTL QLSAPIVRVA ENHVGPIINV TRTGGAFADV SVKFKAVPIT AIAGEDYSIA SSDVVLLEGE TSKAVPIYVI NDIYPELEES FLVQLMNETT GGARLGALTE AVIIIEASDD PYGLFGFQIT KLIVEEPEFN SVKVNLPIIR NSGTLGNVTV QWVATINGQL ATGDLRVVSG NVTFAPGETI QTLLLEVLAD DVPEIEEVIQ VQLTDASGGG TIGLDRIANI IIPANDDPYG TVAFAQMVYR VQEPLERSSC ANITVRRSGG HFGRLLLFYS TSDIDVVALA MEEGQDLLSY YESPIQGVPD PLWRTWMNVS AVGEPLYTCA TLCLKEQACS AFSFFSASEG PQCFWMTSWI SPAVNNSDFW TYRKNMTRVA SLFSGQAVAG SDYEPVTRQW AIMQEGDEFA NLTVSILPDD FPEMDESFLI SLLEVHLMNI SASLKNQPTI GQPNISTVVI ALNGDAFGVF VIYNISPNTS EDGLFVEVQE QPQTLVELMI HRTGGSLGQV AVEWRVVGGT ATEGLDFIGA GEILTFAEGE TKKTVILTIL DDSEPEDDES IIVSLVYTEG GSRILPSSDT VRVNILANDN VAGIVSFQTA SRSVIGHEGE ILQFHVIRTF PGRGNVTVNW KIIGQNLELN FANFSGQLFF PEGSLNTTLF VHLLDDNIPE EKEVYQVILY DVRTQGVPPA GIALLDAQGY AAVLTVEASD EPHGVLNFAL SSRFVLLQEA NITIQLFINR EFGSLGAINV TYTTVPGMLS LKNQTVGNLA EPEVDFVPII GFLILEEGET AAAINITILE DDVPELEEYF LVNLTYVGLT MAASTSFPPR LDSEGLTAQV IIDANDGARG VIEWQQSRFE VNETHGSLTL VAQRSREPLG HVSLFVYAQN LEAQVGLDYI FTPMILHFAD GERYKNVNIM ILDDDIPEGD EKFQLILTNP SPGLELGKNT IALIIVLAND DGPGVLSFNN SEHFFLREPT ALYVQESVAV LYIVREPAQG LFGTVTVQFI VTEVNSSNES KDLTPSKGYI VLEEGVRFKA LQISAILDTE PEMDEYFVCT LFNPTGGARL GVHVQTLITV LQNQAPLGLF SISAVENRAT SIDIEEANRT VYLNVSRTNG IDLAVSVQWE TVSETAFGMR GMDVVFSVFQ SFLDESASGW CFFTLENLIY GIMLRKSSVT VYRWQGIFIP VEDLNIENPK TCEAFNIGFS PYFVITHEER NEEKPSLNSV FTFTSGFKLF LVQTIIILES SQVRYFTSDS QDYLIIASQR DDSELTQVFR WNGGSFVLHQ KLPVRGVLTV ALFNKGGSVF LAISQANARL NSLLFRWSGS GFINFQEVPV SGTTEVEALS SANDIYLIFA ENVFLGDQNS IDIFIWEMGQ SSFRYFQSVD FAAVNRIHSF TPASGIAHIL LIGQDMSALY CWNSERNQFS FVLEVPSAYD VASVTVKSLN SSKNLIALVG AHSHIYELAY ISSHSDFIPS SGELIFEPGE REATIAVNIL DDTVPEKEES FKVQLKNPKG GAEIGINDSV TITILSNDDA YGIVAFAQNS LYKQVEEMEQ DSLVTLNVER LKGTYGRITI AWEADGSISD IFPTSGVILF TEGQVLSTIT LTILADNIPE LSEVVIVTLT RITTEGVEDS YKGATIDQDR SKSVITTLPN DSPFGLVGWR AASVFIRVAE PKENTTTLQL QIARDKGLLG DIAIHLRAQP NFLLHVDNQA TENEDYVLQE TIIIMKENIK EAHAEVSILP DDLPELEEGF IVTITEVNLV NSDFSTGQPS VRRPGMEIAE IMIEENDDPR GIFMFHVTRG AGEVITAYEV PPPLNVLQVP VVRLAGSFGA VNVYWKASPD SAGLEDFKPS HGILEFADKQ VTAMIEITII DDAEFELTET FNISLISVAG GGRLGDDVVV TVVIPQNDSP FGVFGFEEKT VMTDESLSSD DPDSYVTLTV VRSPGGKGTV RLEWTIDEKA KHNLSPLNGT LHFDETESQK TIVLHTLQDT VLEEDRRFTI QLISIDEVEI SPVKGSASII IRGDKRASGE VGIAPSSRHI LIGEPSAKYN GTAIISLVRG PGILGEVTVF WRIFPPSVGE FAETSGKLTM RDEQSAVIVV IQALNDDIPE EKSFYEFQLT AVSEGGVLSE SSSTANITVV ASDSPYGRFA FSHEQLRVSE AQRVNITIIR SSGDFGHVRL WYKTMSGTAE AGLDFVPAAG ELLFEAGEMR KSLHVEILDD DYPEGPEEFS LTITKVELQG RGYDFTIQEN GLQIDQPPEI GNISIVRIII MKNDNAEGII EFDPKYTAFE VEEDVGLIMI PVVRLHGTYG YVTADFISQS SSASPGGVDY ILHGSTVTFQ HGQNLSFINI SIIDDNESEF EEPIEILLTG ATGGAVLGRH LVSRIIIAKS DSPFGVIRFL NQSKISIANP NSTMILSLVL ERTGGLLGEI QVNWETVGPN SQEALLPQNR DIADPVSGLF YFGEGEGGVR TIILTIYPHE EIEVEETFII KLHLVKGEAK LDSRAKDVTL TIQEFGDPNG VVQFAPETLS KKTYSEPLAL EGPLLITFFV RRVKGTFGEI MVYWELSSEF DITEDFLSTS GFFTIADGES EASFDVHLLP DEVPEIEEDY VIQLVSVEGG AELDLEKSIT WFSVYANDDP HGVFALYSDR QSILIGQNLI RSIQINITRL AGTFGDVAVG LRISSDHKEQ PIVTENAERQ LVVKDGATYK VDVVPIKNQV FLSLGSNFTL QLVTVMLVGG RFYGMPTILQ EAKSAVLPVS EKAANSQVGF ESTAFQLMNI TAGTSHVMIS RRGTYGALSV AWTTGYAPGL EIPEFIVVGN MTPTLGSLSF SHGEQRKGVF LWTFPSPGWP EAFVLHLSGV QSSAPGGAQL RSGFIVAEIE PMGVFQFSTS SRNIIVSEDT QMIRLHVQRL FGFHSDLIKV SYQTTAGSAK PLEDFEPVQN GELFFQKFQT EVDFEITIIN DQLSEIEEFF YINLTSVEIR GLQKFDVNWS PRLNLDFSVA VITILDNDDL AGMDISFPET TVAVAVDTTL IPVETESTTY LSTSKTTTIL QPTNVVAIVT EATGVSAIPE KLVTLHGTPA VSEKPDVATV TANVSIHGTF SLGPSIVYIE EEMKNGTFNT AEVLIRRTGG FTGNVSITVK TFGERCAQME PNALPFRGIY GISNLTWAVE EEDFEEQTLT LIFLDGERER KVSVQILDDD EPEGQEFFYV FLTNPQGGAQ IVEEKDDTGF AAFAMVIITG SDLHNGIIGF SEESQSGLEL REGAVMRRLH LIVTRQPNRA FEDVKVFWRV TLNKTVVVLQ KDGVNLVEEL QSVSGTTTCT MGQTKCFISI ELKPEKVPQV EVYFFVELYE ATAGAAINNS ARFAQIKILE SDESQSLVYF SVGSRLAVAH KKATLISLQV ARDSGTGLMM SVNFSTQELR SAETIGRTII SPAISGKDFV ITEGTLVFEP GQRSTVLDVI LTPETGSLNS FPKRFQIVLF DPKGGARIDK VYGTANITLV SDADSQAIWG LADQLHQPVN DDILNRVLHT ISMKVATENT DEQLSAMMHL IEKITTEGKI QAFSVASRTL FYEILCSLIN PKRKDTRGFS HFAEVTENFA FSLLTNVTCG SPGEKSKTIL DSCPYLSILA LHWYPQQING HKFEGKEGDY IRIPERLLDV QDAEIMAGKS TCKLVQFTEY SSQQWFISGN NLPTLKNKVL SLSVKGQSSQ LLTNDNEVLY RIYAAEPRII PQTSLCLLWN QAAASWLSDS QFCKVVEETA DYVECACSHM SVYAVYARTD NLSSYNEAFF TSGFICISGL CLAVLSHIFC ARYSMFAAKL LTHMMAASLG TQILFLASAY ASPQLAEESC SAMAAVTHYL YLCQFSWMLI QSVNFWYVLV MNDEHTERRY LLFFLLSWGL PAFVVILLIV ILKGIYHQSM SQIYGLIHGD LCFIPNVYAA LFTAALVPLT CLVVVFVVFI HAYQVKPQWK AYDDVFRGRT NAAEIPLILY LFALISVTWL WGGLHMAYRH FWMLVLFVIF NSLQGLYVFM VYFILHNQMC CPMKASYTVE MNGHPGPSTA FFTPGSGMPP AGGEISKSTQ NLIGAMEEVP PDWERASFQQ GSQASPDLKP SPQNGATFPS SGGYGQGSLI ADEESQEFDD LIFALKTGAG LSVSDNESGQ GSQEGGTLTD SQIVELRRIP IADTHL* | ||||||||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 18921 / 18921 | ||||||||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 6307 / 6307 | ||||||||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 19020 / 19020 | ||||||||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 100 / 100 | ||||||||||||||||||||||||||
| Last intron/exon boundary | 18901 | ||||||||||||||||||||||||||
| Theoretical NMD boundary in CDS | 18751 | ||||||||||||||||||||||||||
| Length of CDS | 18921 | ||||||||||||||||||||||||||
| Coding sequence (CDS) position | 12128 | ||||||||||||||||||||||||||
| cDNA position | 12227 | ||||||||||||||||||||||||||
| gDNA position | 233969 | ||||||||||||||||||||||||||
| Chromosomal position | 90763312 | ||||||||||||||||||||||||||
| Speed | 0.18 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