| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| POLE | Deleterious | 112|88 | without_ | No | Single base exchange | Normal | |||||||
ENST00000320574(MANE Select) | POLE | Deleterious | 113|87 | without_ | No | Single base exchange | Normal |
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:132657184G>A (GRCh38) | |||||||||||||
| Gene symbol | POLE | |||||||||||||
| Gene constraints | LOEUF: 0.75, LOF (oe): 0.66, misssense (oe): 0.87, synonymous (oe): 1.00 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000535270.5 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.3453C>T g.30193C>T | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 12 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | CTGGAGAAGAATGATGTCTACAAGCAGAAGAAGATCAGTGA | |||||||||||||
| Altered gDNA sequence snippet | CTGGAGAAGAATGATGTCTATAAGCAGAAGAAGATCAGTGA | |||||||||||||
| Original cDNA sequence snippet | CTGGAGAAGAATGATGTCTACAAGCAGAAGAAGATCAGTGA | |||||||||||||
| Altered cDNA sequence snippet | CTGGAGAAGAATGATGTCTATAAGCAGAAGAAGATCAGTGA | |||||||||||||
| Wildtype AA sequence | MSLRSGGRRR ADPGADGEAS RDDGATSSVS ALKRLERSQW TDKMDLRFGF ERLKEPGEKT GWLINMHPVA LPYKPYFYIA TRKGCEREVS SFLSKKFQGK IAKVETVPKE DLDLPNHLVG LKRNYIRLSF HTVEDLVKVR KEISPAVKKN REQDHASDAY TALLSSVLQR GGVITDEEET SKKIADQLDN IVDMREYDVP YHIRLSIDLK IHVAHWYNVR YRGNAFPVEI TRRDDLVERP DPVVLAFDIE TTKLPLKFPD AETDQIMMIS YMIDGQGYLI TNREIVSEDI EDFEFTPKPE YEGPFCVFNE PDEAHLIQRW FEHVQETKPT IMVTYNGDFF DWPFVEARAA VHGLSMQQEI GFQKDSQGEY KAPQCIHMDC LRWVKRDSYL PVGSHNLKAA AKAKLGYDPV ELDPEDMCRM ATEQPQTLAT YSVSDAVATY YLYMKYVHPF IFALCTIIPM EPDEVLRKGS GTLCEALLMV QAFHANIIFP NKQEQEFNKL TDDGHVLDSE TYVGGHVEAL ESGVFRSDIP CRFRMNPAAF DFLLQRVEKT LRHALEEEEK VPVEQVTNFE EVCDEIKSKL ASLKDVPSRI ECPLIYHLDV GAMYPNIILT NRLQPSAMVD EATCAACDFN KPGANCQRKM AWQWRGEFMP ASRSEYHRIQ HQLESEKFPP LFPEGPARAF HELSREEQAK YEKRRLADYC RKAYKKIHIT KVEERLTTIC QRENSFYVDT VRAFRDRRYE FKGLHKVWKK KLSAAVEVGD AAEVKRCKNM EVLYDSLQLA HKCILNSFYG YVMRKGARWY SMEMAGIVCF TGANIITQAR ELIEQIGRPL ELDTDGIWCV LPNSFPENFV FKTTNVKKPK VTISYPGAML NIMVKEGFTN DQYQELAEPS SLTYVTRSEN SIFFEVDGPY LAMILPASKE EGKKLKKRYA VFNEDGSLAE LKGFEVKRRG ELQLIKIFQS SVFEAFLKGS TLEEVYGSVA KVADYWLDVL YSKAANMPDS ELFELISENR SMSRKLEDYG EQKSTSISTA KRLAEFLGDQ MVKDAGLSCR YIISRKPEGS PVTERAIPLA IFQAEPTVRK HFLRKWLKSS SLQDFDIRAI LDWDYYIERL GSAIQKIITI PAALQQVKNP VPRVKHPDWL HKKLLEKNDV YKQKKISELF TLEGRRQVTM AEASEDSPRP SAPDMEDFGL VKLPHPAAPV TVKRKRVLWE SQEESQDLTP TVPWQEILGQ PPALGTSQEE WLVWLRFHKK KWQLQARQRL ARRKRQRLES AEGVLRPGAI RDGPATGLGS FLRRTARSIL DLPWQIVQIS ETSQAGLFRL WALVGSDLHC IRLSIPRVFY VNQRVAKAEE GASYRKVNRV LPRSNMVYNL YEYSVPEDMY QEHINEINAE LSAPDIEGVY ETQVPLLFRA LVHLGCVCVV NKQLVRHLSG WEAETFALEH LEMRSLAQFS YLEPGSIRHI YLYHHAQAHK ALFGIFIPSQ RRASVFVLDT VRSNQMPSLG ALYSAEHGLL LEKVGPELLP PPKHTFEVRA ETDLKTICRA IQRFLLAYKE ERRGPTLIAV QSSWELKRLA SEIPVLEEFP LVPICVADKI NYGVLDWQRH GARRMIRHYL NLDTCLSQAF EMSRYFHIPI GNLPEDISTF GSDLFFARHL QRHNHLLWLS PTARPDLGGK EADDNCLVME FDDQATVEIN SSGCYSTVCV ELDLQNLAVN TILQSHHVND MEGADSMGIS FDVIQQASLE DMITGGQAAS APASYDETAL CSNTFRILKS MVVGWVKEIT QYHNIYADNQ VMHFYRWLRS PSSLLHDPAL HRTLHNMMKK LFLQLIAEFK RLGSSVIYAN FNRIILCTKK RRVEDAIAYV EYITSSIHSK ETFHSLTISF SRCWEFLLWM DPSNYGGIKG KVSSRIHCGL QDSQKAGGAE DEQENEDDEE ERDGEEEEEA EESNVEDLLE NNWNILQFLP QAASCQNYFL MIVSAYIVAV YHCMKDGLRR SAPGSTPVRR RGASQLSQEA EGAVGALPGM ITFSQDYVAN ELTQSFFTIT QKIQKKVTGS RNSTELSEMF PVLPGSHLLL NNPALEFIKY VCKVLSLDTN ITNQVNKLNR DLLRLVDVGE FSEEAQFRDP CRSYVLPEVI CRSCNFCRDL DLCKDSSFSE DGAVLPQWLC SNCQAPYDSS AIEMTLVEVL QKKLMAFTLQ DLVCLKCRGV KETSMPVYCS CAGDFALTIH TQVFMEQIGI FRNIAQHYGM SYLLETLEWL LQKNPQLGH* | |||||||||||||
| Mutated AA sequence | MSLRSGGRRR ADPGADGEAS RDDGATSSVS ALKRLERSQW TDKMDLRFGF ERLKEPGEKT GWLINMHPVA LPYKPYFYIA TRKGCEREVS SFLSKKFQGK IAKVETVPKE DLDLPNHLVG LKRNYIRLSF HTVEDLVKVR KEISPAVKKN REQDHASDAY TALLSSVLQR GGVITDEEET SKKIADQLDN IVDMREYDVP YHIRLSIDLK IHVAHWYNVR YRGNAFPVEI TRRDDLVERP DPVVLAFDIE TTKLPLKFPD AETDQIMMIS YMIDGQGYLI TNREIVSEDI EDFEFTPKPE YEGPFCVFNE PDEAHLIQRW FEHVQETKPT IMVTYNGDFF DWPFVEARAA VHGLSMQQEI GFQKDSQGEY KAPQCIHMDC LRWVKRDSYL PVGSHNLKAA AKAKLGYDPV ELDPEDMCRM ATEQPQTLAT YSVSDAVATY YLYMKYVHPF IFALCTIIPM EPDEVLRKGS GTLCEALLMV QAFHANIIFP NKQEQEFNKL TDDGHVLDSE TYVGGHVEAL ESGVFRSDIP CRFRMNPAAF DFLLQRVEKT LRHALEEEEK VPVEQVTNFE EVCDEIKSKL ASLKDVPSRI ECPLIYHLDV GAMYPNIILT NRLQPSAMVD EATCAACDFN KPGANCQRKM AWQWRGEFMP ASRSEYHRIQ HQLESEKFPP LFPEGPARAF HELSREEQAK YEKRRLADYC RKAYKKIHIT KVEERLTTIC QRENSFYVDT VRAFRDRRYE FKGLHKVWKK KLSAAVEVGD AAEVKRCKNM EVLYDSLQLA HKCILNSFYG YVMRKGARWY SMEMAGIVCF TGANIITQAR ELIEQIGRPL ELDTDGIWCV LPNSFPENFV FKTTNVKKPK VTISYPGAML NIMVKEGFTN DQYQELAEPS SLTYVTRSEN SIFFEVDGPY LAMILPASKE EGKKLKKRYA VFNEDGSLAE LKGFEVKRRG ELQLIKIFQS SVFEAFLKGS TLEEVYGSVA KVADYWLDVL YSKAANMPDS ELFELISENR SMSRKLEDYG EQKSTSISTA KRLAEFLGDQ MVKDAGLSCR YIISRKPEGS PVTERAIPLA IFQAEPTVRK HFLRKWLKSS SLQDFDIRAI LDWDYYIERL GSAIQKIITI PAALQQVKNP VPRVKHPDWL HKKLLEKNDV YKQKKISELF TLEGRRQVTM AEASEDSPRP SAPDMEDFGL VKLPHPAAPV TVKRKRVLWE SQEESQDLTP TVPWQEILGQ PPALGTSQEE WLVWLRFHKK KWQLQARQRL ARRKRQRLES AEGVLRPGAI RDGPATGLGS FLRRTARSIL DLPWQIVQIS ETSQAGLFRL WALVGSDLHC IRLSIPRVFY VNQRVAKAEE GASYRKVNRV LPRSNMVYNL YEYSVPEDMY QEHINEINAE LSAPDIEGVY ETQVPLLFRA LVHLGCVCVV NKQLVRHLSG WEAETFALEH LEMRSLAQFS YLEPGSIRHI YLYHHAQAHK ALFGIFIPSQ RRASVFVLDT VRSNQMPSLG ALYSAEHGLL LEKVGPELLP PPKHTFEVRA ETDLKTICRA IQRFLLAYKE ERRGPTLIAV QSSWELKRLA SEIPVLEEFP LVPICVADKI NYGVLDWQRH GARRMIRHYL NLDTCLSQAF EMSRYFHIPI GNLPEDISTF GSDLFFARHL QRHNHLLWLS PTARPDLGGK EADDNCLVME FDDQATVEIN SSGCYSTVCV ELDLQNLAVN TILQSHHVND MEGADSMGIS FDVIQQASLE DMITGGQAAS APASYDETAL CSNTFRILKS MVVGWVKEIT QYHNIYADNQ VMHFYRWLRS PSSLLHDPAL HRTLHNMMKK LFLQLIAEFK RLGSSVIYAN FNRIILCTKK RRVEDAIAYV EYITSSIHSK ETFHSLTISF SRCWEFLLWM DPSNYGGIKG KVSSRIHCGL QDSQKAGGAE DEQENEDDEE ERDGEEEEEA EESNVEDLLE NNWNILQFLP QAASCQNYFL MIVSAYIVAV YHCMKDGLRR SAPGSTPVRR RGASQLSQEA EGAVGALPGM ITFSQDYVAN ELTQSFFTIT QKIQKKVTGS RNSTELSEMF PVLPGSHLLL NNPALEFIKY VCKVLSLDTN ITNQVNKLNR DLLRLVDVGE FSEEAQFRDP CRSYVLPEVI CRSCNFCRDL DLCKDSSFSE DGAVLPQWLC SNCQAPYDSS AIEMTLVEVL QKKLMAFTLQ DLVCLKCRGV KETSMPVYCS CAGDFALTIH TQVFMEQIGI FRNIAQHYGM SYLLETLEWL LQKNPQLGH* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 6780 / 6780 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2260 / 2260 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 6793 / 6793 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 14 / 14 | |||||||||||||
| Last intron/exon boundary | 6679 | |||||||||||||
| Theoretical NMD boundary in CDS | 6615 | |||||||||||||
| Length of CDS | 6780 | |||||||||||||
| Coding sequence (CDS) position | 3453 | |||||||||||||
| cDNA position | 3466 | |||||||||||||
| gDNA position | 30193 | |||||||||||||
| Chromosomal position | 132657184 | |||||||||||||
| Speed | 0.02 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 | Chr12:132657184G>A (GRCh38) | |||||||||||||
| Gene symbol | POLE | |||||||||||||
| Gene constraints | LOEUF: 0.75, LOF (oe): 0.66, misssense (oe): 0.87, synonymous (oe): 1.00 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000320574.10 | |||||||||||||
| Genbank transcript ID | NM_006231 (exact from MANE) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.3534C>T g.30193C>T | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 12 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | CTGGAGAAGAATGATGTCTACAAGCAGAAGAAGATCAGTGA | |||||||||||||
| Altered gDNA sequence snippet | CTGGAGAAGAATGATGTCTATAAGCAGAAGAAGATCAGTGA | |||||||||||||
| Original cDNA sequence snippet | CTGGAGAAGAATGATGTCTACAAGCAGAAGAAGATCAGTGA | |||||||||||||
| Altered cDNA sequence snippet | CTGGAGAAGAATGATGTCTATAAGCAGAAGAAGATCAGTGA | |||||||||||||
| Wildtype AA sequence | MSLRSGGRRR ADPGADGEAS RDDGATSSVS ALKRLERSQW TDKMDLRFGF ERLKEPGEKT GWLINMHPTE ILDEDKRLGS AVDYYFIQDD GSRFKVALPY KPYFYIATRK GCEREVSSFL SKKFQGKIAK VETVPKEDLD LPNHLVGLKR NYIRLSFHTV EDLVKVRKEI SPAVKKNREQ DHASDAYTAL LSSVLQRGGV ITDEEETSKK IADQLDNIVD MREYDVPYHI RLSIDLKIHV AHWYNVRYRG NAFPVEITRR DDLVERPDPV VLAFDIETTK LPLKFPDAET DQIMMISYMI DGQGYLITNR EIVSEDIEDF EFTPKPEYEG PFCVFNEPDE AHLIQRWFEH VQETKPTIMV TYNGDFFDWP FVEARAAVHG LSMQQEIGFQ KDSQGEYKAP QCIHMDCLRW VKRDSYLPVG SHNLKAAAKA KLGYDPVELD PEDMCRMATE QPQTLATYSV SDAVATYYLY MKYVHPFIFA LCTIIPMEPD EVLRKGSGTL CEALLMVQAF HANIIFPNKQ EQEFNKLTDD GHVLDSETYV GGHVEALESG VFRSDIPCRF RMNPAAFDFL LQRVEKTLRH ALEEEEKVPV EQVTNFEEVC DEIKSKLASL KDVPSRIECP LIYHLDVGAM YPNIILTNRL QPSAMVDEAT CAACDFNKPG ANCQRKMAWQ WRGEFMPASR SEYHRIQHQL ESEKFPPLFP EGPARAFHEL SREEQAKYEK RRLADYCRKA YKKIHITKVE ERLTTICQRE NSFYVDTVRA FRDRRYEFKG LHKVWKKKLS AAVEVGDAAE VKRCKNMEVL YDSLQLAHKC ILNSFYGYVM RKGARWYSME MAGIVCFTGA NIITQARELI EQIGRPLELD TDGIWCVLPN SFPENFVFKT TNVKKPKVTI SYPGAMLNIM VKEGFTNDQY QELAEPSSLT YVTRSENSIF FEVDGPYLAM ILPASKEEGK KLKKRYAVFN EDGSLAELKG FEVKRRGELQ LIKIFQSSVF EAFLKGSTLE EVYGSVAKVA DYWLDVLYSK AANMPDSELF ELISENRSMS RKLEDYGEQK STSISTAKRL AEFLGDQMVK DAGLSCRYII SRKPEGSPVT ERAIPLAIFQ AEPTVRKHFL RKWLKSSSLQ DFDIRAILDW DYYIERLGSA IQKIITIPAA LQQVKNPVPR VKHPDWLHKK LLEKNDVYKQ KKISELFTLE GRRQVTMAEA SEDSPRPSAP DMEDFGLVKL PHPAAPVTVK RKRVLWESQE ESQDLTPTVP WQEILGQPPA LGTSQEEWLV WLRFHKKKWQ LQARQRLARR KRQRLESAEG VLRPGAIRDG PATGLGSFLR RTARSILDLP WQIVQISETS QAGLFRLWAL VGSDLHCIRL SIPRVFYVNQ RVAKAEEGAS YRKVNRVLPR SNMVYNLYEY SVPEDMYQEH INEINAELSA PDIEGVYETQ VPLLFRALVH LGCVCVVNKQ LVRHLSGWEA ETFALEHLEM RSLAQFSYLE PGSIRHIYLY HHAQAHKALF GIFIPSQRRA SVFVLDTVRS NQMPSLGALY SAEHGLLLEK VGPELLPPPK HTFEVRAETD LKTICRAIQR FLLAYKEERR GPTLIAVQSS WELKRLASEI PVLEEFPLVP ICVADKINYG VLDWQRHGAR RMIRHYLNLD TCLSQAFEMS RYFHIPIGNL PEDISTFGSD LFFARHLQRH NHLLWLSPTA RPDLGGKEAD DNCLVMEFDD QATVEINSSG CYSTVCVELD LQNLAVNTIL QSHHVNDMEG ADSMGISFDV IQQASLEDMI TGGQAASAPA SYDETALCSN TFRILKSMVV GWVKEITQYH NIYADNQVMH FYRWLRSPSS LLHDPALHRT LHNMMKKLFL QLIAEFKRLG SSVIYANFNR IILCTKKRRV EDAIAYVEYI TSSIHSKETF HSLTISFSRC WEFLLWMDPS NYGGIKGKVS SRIHCGLQDS QKAGGAEDEQ ENEDDEEERD GEEEEEAEES NVEDLLENNW NILQFLPQAA SCQNYFLMIV SAYIVAVYHC MKDGLRRSAP GSTPVRRRGA SQLSQEAEGA VGALPGMITF SQDYVANELT QSFFTITQKI QKKVTGSRNS TELSEMFPVL PGSHLLLNNP ALEFIKYVCK VLSLDTNITN QVNKLNRDLL RLVDVGEFSE EAQFRDPCRS YVLPEVICRS CNFCRDLDLC KDSSFSEDGA VLPQWLCSNC QAPYDSSAIE MTLVEVLQKK LMAFTLQDLV CLKCRGVKET SMPVYCSCAG DFALTIHTQV FMEQIGIFRN IAQHYGMSYL LETLEWLLQK NPQLGH* | |||||||||||||
| Mutated AA sequence | MSLRSGGRRR ADPGADGEAS RDDGATSSVS ALKRLERSQW TDKMDLRFGF ERLKEPGEKT GWLINMHPTE ILDEDKRLGS AVDYYFIQDD GSRFKVALPY KPYFYIATRK GCEREVSSFL SKKFQGKIAK VETVPKEDLD LPNHLVGLKR NYIRLSFHTV EDLVKVRKEI SPAVKKNREQ DHASDAYTAL LSSVLQRGGV ITDEEETSKK IADQLDNIVD MREYDVPYHI RLSIDLKIHV AHWYNVRYRG NAFPVEITRR DDLVERPDPV VLAFDIETTK LPLKFPDAET DQIMMISYMI DGQGYLITNR EIVSEDIEDF EFTPKPEYEG PFCVFNEPDE AHLIQRWFEH VQETKPTIMV TYNGDFFDWP FVEARAAVHG LSMQQEIGFQ KDSQGEYKAP QCIHMDCLRW VKRDSYLPVG SHNLKAAAKA KLGYDPVELD PEDMCRMATE QPQTLATYSV SDAVATYYLY MKYVHPFIFA LCTIIPMEPD EVLRKGSGTL CEALLMVQAF HANIIFPNKQ EQEFNKLTDD GHVLDSETYV GGHVEALESG VFRSDIPCRF RMNPAAFDFL LQRVEKTLRH ALEEEEKVPV EQVTNFEEVC DEIKSKLASL KDVPSRIECP LIYHLDVGAM YPNIILTNRL QPSAMVDEAT CAACDFNKPG ANCQRKMAWQ WRGEFMPASR SEYHRIQHQL ESEKFPPLFP EGPARAFHEL SREEQAKYEK RRLADYCRKA YKKIHITKVE ERLTTICQRE NSFYVDTVRA FRDRRYEFKG LHKVWKKKLS AAVEVGDAAE VKRCKNMEVL YDSLQLAHKC ILNSFYGYVM RKGARWYSME MAGIVCFTGA NIITQARELI EQIGRPLELD TDGIWCVLPN SFPENFVFKT TNVKKPKVTI SYPGAMLNIM VKEGFTNDQY QELAEPSSLT YVTRSENSIF FEVDGPYLAM ILPASKEEGK KLKKRYAVFN EDGSLAELKG FEVKRRGELQ LIKIFQSSVF EAFLKGSTLE EVYGSVAKVA DYWLDVLYSK AANMPDSELF ELISENRSMS RKLEDYGEQK STSISTAKRL AEFLGDQMVK DAGLSCRYII SRKPEGSPVT ERAIPLAIFQ AEPTVRKHFL RKWLKSSSLQ DFDIRAILDW DYYIERLGSA IQKIITIPAA LQQVKNPVPR VKHPDWLHKK LLEKNDVYKQ KKISELFTLE GRRQVTMAEA SEDSPRPSAP DMEDFGLVKL PHPAAPVTVK RKRVLWESQE ESQDLTPTVP WQEILGQPPA LGTSQEEWLV WLRFHKKKWQ LQARQRLARR KRQRLESAEG VLRPGAIRDG PATGLGSFLR RTARSILDLP WQIVQISETS QAGLFRLWAL VGSDLHCIRL SIPRVFYVNQ RVAKAEEGAS YRKVNRVLPR SNMVYNLYEY SVPEDMYQEH INEINAELSA PDIEGVYETQ VPLLFRALVH LGCVCVVNKQ LVRHLSGWEA ETFALEHLEM RSLAQFSYLE PGSIRHIYLY HHAQAHKALF GIFIPSQRRA SVFVLDTVRS NQMPSLGALY SAEHGLLLEK VGPELLPPPK HTFEVRAETD LKTICRAIQR FLLAYKEERR GPTLIAVQSS WELKRLASEI PVLEEFPLVP ICVADKINYG VLDWQRHGAR RMIRHYLNLD TCLSQAFEMS RYFHIPIGNL PEDISTFGSD LFFARHLQRH NHLLWLSPTA RPDLGGKEAD DNCLVMEFDD QATVEINSSG CYSTVCVELD LQNLAVNTIL QSHHVNDMEG ADSMGISFDV IQQASLEDMI TGGQAASAPA SYDETALCSN TFRILKSMVV GWVKEITQYH NIYADNQVMH FYRWLRSPSS LLHDPALHRT LHNMMKKLFL QLIAEFKRLG SSVIYANFNR IILCTKKRRV EDAIAYVEYI TSSIHSKETF HSLTISFSRC WEFLLWMDPS NYGGIKGKVS SRIHCGLQDS QKAGGAEDEQ ENEDDEEERD GEEEEEAEES NVEDLLENNW NILQFLPQAA SCQNYFLMIV SAYIVAVYHC MKDGLRRSAP GSTPVRRRGA SQLSQEAEGA VGALPGMITF SQDYVANELT QSFFTITQKI QKKVTGSRNS TELSEMFPVL PGSHLLLNNP ALEFIKYVCK VLSLDTNITN QVNKLNRDLL RLVDVGEFSE EAQFRDPCRS YVLPEVICRS CNFCRDLDLC KDSSFSEDGA VLPQWLCSNC QAPYDSSAIE MTLVEVLQKK LMAFTLQDLV CLKCRGVKET SMPVYCSCAG DFALTIHTQV FMEQIGIFRN IAQHYGMSYL LETLEWLLQK NPQLGH* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 6861 / 6861 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2287 / 2287 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 6888 / 6888 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 28 / 28 | |||||||||||||
| Last intron/exon boundary | 6774 | |||||||||||||
| Theoretical NMD boundary in CDS | 6696 | |||||||||||||
| Length of CDS | 6861 | |||||||||||||
| Coding sequence (CDS) position | 3534 | |||||||||||||
| cDNA position | 3561 | |||||||||||||
| gDNA position | 30193 | |||||||||||||
| Chromosomal position | 132657184 | |||||||||||||
| Speed | 0.02 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