| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CFTR | Deleterious | 58|42 | simple_ | No | Single base exchange | Normal |
| ||||||
| CFTR | Deleterious | 58|42 | simple_ | No | Single base exchange | Normal |
| ||||||
ENST00000003084(MANE Select) | CFTR | Deleterious | 67|33 | simple_ | No | Single base exchange | Normal |
| |||||
| CFTR | Deleterious | 73|27 | simple_ | No | Single base exchange | Normal |
| ||||||
| CFTR | Deleterious | 76|24 | simple_ | No | Single base exchange | Normal |
| ||||||
| CFTR | Benign | 75|125 | without_ | No | Single base exchange | N/A |
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr7:117587772G>A (GRCh38) | |||||||||||||
| Gene symbol | CFTR | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000699605.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1192G>A g.300653G>A | |||||||||||||
| 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 | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 7 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | TTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATC | |||||||||||||
| Altered gDNA sequence snippet | TTGCAGAGAAAGACAATATAATTCTTGGAGAAGGTGGAATC | |||||||||||||
| Original cDNA sequence snippet | TTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATC | |||||||||||||
| Altered cDNA sequence snippet | TTGCAGAGAAAGACAATATAATTCTTGGAGAAGGTGGAATC | |||||||||||||
| Wildtype AA sequence | MFYGIFLYLG EVTKAVQPLL LGRIIASYDP DNKEERSIAI YLGIGLCLLF IVRTLLLHPA IFGLHHIGMQ MRIAMFSLIY KKTLKLSSRV LDKISIGQLV SLLSNNLNKF DEGLALAHFV WIAPLQVALL MGLIWELLQA SAFCGLGFLI VLALFQAGLG RMMMKYRDQR AGKISERLVI TSEMIENIQS VKAYCWEEAM EKMIENLRQT ELKLTRKAAY VRYFNSSAFF FSGFFVVFLS VLPYALIKGI ILRKIFTTIS FCIVLRMAVT RQFPWAVQTW YDSLGAINKI QDFLQKQEYK TLEYNLTTTE VVMENVTAFW EETSLLMVIM GELEPSEGKI KHSGRISFCS QFSWIMPGTI KENIIFGVSY DEYRYRSVIK ACQLEEDISK FAEKDNIVLG EGGITLSGGQ RARISLARAV YKDADLYLLD SPFGYLDVLT EKEIFESCVC KLMANKTRIL VTSKMEHLKK ADKILILHEG SSYFYGTFSE LQNLQPDFSS KLMGCDSFDQ FSAERRNSIL TETLHRFSLE GDAPVSWTET KKQSFKQTGE FGEKRKNSIL NPINSIRKFS IVQKTPLQMN GIEEDSDEPL ERRLSLVPDS EQGEAILPRI SVISTGPTLQ ARRRQSVLNL MTHSVNQGQN IHRKTTASTR KVSLAPQANL TELDIYSRRL SQETGLEISE EINEEDLKEC FFDDMESIPA VTTWNTYLRY ITVHKSLIFV LIWCLVIFLA EVAASLVVLW LLGNTPLQDK GNSTHSRNNS YAVIITSTSS YYVFYIYVGV ADTLLAMGFF RGLPLVHTLI TVSKILHHKM LHSVLQAPMS TLNTLKAGGI LNRFSKDIAI LDDLLPLTIF DFIQLLLIVI GAIAVVAVLQ PYIFVATVPV IVAFIMLRAY FLQTSQQLKQ LESEGRSPIF THLVTSLKGL WTLRAFGRQP YFETLFHKAL NLHTANWFLY LSTLRWFQMR IEMIFVIFFI AVTFISILTT GEGEGRVGII LTLAMNIMST LQWAVNSSID VDSLMRSVSR VFKFIDMPTE GKPTKSTKPY KNGQLSKVMI IENSHVKKDD IWPSGGQMTV KDLTAKYTEG GNAILENISF SISPGQRVGL LGRTGSGKST LLSAFLRLLN TEGEIQIDGV SWDSITLQQW RKAFGVIPQK VFIFSGTFRK NLDPYEQWSD QEIWKVADEV GLRSVIEQFP GKLDFVLVDG GCVLSHGHKQ LMCLARSVLS KAKILLLDEP SAHLDPVTYQ IIRRTLKQAF ADCTVILCEH RIEAMLECQQ FLVIEENKVR QYDSIQKLLN ERSLFRQAIS PSDRVKLFPH RNSSKCKSKP QIAALKEETE EEVQDTRL* | |||||||||||||
| Mutated AA sequence | MFYGIFLYLG EVTKAVQPLL LGRIIASYDP DNKEERSIAI YLGIGLCLLF IVRTLLLHPA IFGLHHIGMQ MRIAMFSLIY KKTLKLSSRV LDKISIGQLV SLLSNNLNKF DEGLALAHFV WIAPLQVALL MGLIWELLQA SAFCGLGFLI VLALFQAGLG RMMMKYRDQR AGKISERLVI TSEMIENIQS VKAYCWEEAM EKMIENLRQT ELKLTRKAAY VRYFNSSAFF FSGFFVVFLS VLPYALIKGI ILRKIFTTIS FCIVLRMAVT RQFPWAVQTW YDSLGAINKI QDFLQKQEYK TLEYNLTTTE VVMENVTAFW EETSLLMVIM GELEPSEGKI KHSGRISFCS QFSWIMPGTI KENIIFGVSY DEYRYRSVIK ACQLEEDISK FAEKDNIILG EGGITLSGGQ RARISLARAV YKDADLYLLD SPFGYLDVLT EKEIFESCVC KLMANKTRIL VTSKMEHLKK ADKILILHEG SSYFYGTFSE LQNLQPDFSS KLMGCDSFDQ FSAERRNSIL TETLHRFSLE GDAPVSWTET KKQSFKQTGE FGEKRKNSIL NPINSIRKFS IVQKTPLQMN GIEEDSDEPL ERRLSLVPDS EQGEAILPRI SVISTGPTLQ ARRRQSVLNL MTHSVNQGQN IHRKTTASTR KVSLAPQANL TELDIYSRRL SQETGLEISE EINEEDLKEC FFDDMESIPA VTTWNTYLRY ITVHKSLIFV LIWCLVIFLA EVAASLVVLW LLGNTPLQDK GNSTHSRNNS YAVIITSTSS YYVFYIYVGV ADTLLAMGFF RGLPLVHTLI TVSKILHHKM LHSVLQAPMS TLNTLKAGGI LNRFSKDIAI LDDLLPLTIF DFIQLLLIVI GAIAVVAVLQ PYIFVATVPV IVAFIMLRAY FLQTSQQLKQ LESEGRSPIF THLVTSLKGL WTLRAFGRQP YFETLFHKAL NLHTANWFLY LSTLRWFQMR IEMIFVIFFI AVTFISILTT GEGEGRVGII LTLAMNIMST LQWAVNSSID VDSLMRSVSR VFKFIDMPTE GKPTKSTKPY KNGQLSKVMI IENSHVKKDD IWPSGGQMTV KDLTAKYTEG GNAILENISF SISPGQRVGL LGRTGSGKST LLSAFLRLLN TEGEIQIDGV SWDSITLQQW RKAFGVIPQK VFIFSGTFRK NLDPYEQWSD QEIWKVADEV GLRSVIEQFP GKLDFVLVDG GCVLSHGHKQ LMCLARSVLS KAKILLLDEP SAHLDPVTYQ IIRRTLKQAF ADCTVILCEH RIEAMLECQQ FLVIEENKVR QYDSIQKLLN ERSLFRQAIS PSDRVKLFPH RNSSKCKSKP QIAALKEETE EEVQDTRL* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 4017 / 4017 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1339 / 1339 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 4439 / 4439 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 423 / 423 | |||||||||||||
| Last intron/exon boundary | 4238 | |||||||||||||
| Theoretical NMD boundary in CDS | 3765 | |||||||||||||
| Length of CDS | 4017 | |||||||||||||
| Coding sequence (CDS) position | 1192 | |||||||||||||
| cDNA position | 1614 | |||||||||||||
| gDNA position | 300653 | |||||||||||||
| Chromosomal position | 117587772 | |||||||||||||
| Speed | 0.08 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 | Chr7:117587772G>A (GRCh38) | |||||||||||||
| Gene symbol | CFTR | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000699602.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1618G>A g.300653G>A | |||||||||||||
| 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 | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 7 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | TTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATC | |||||||||||||
| Altered gDNA sequence snippet | TTGCAGAGAAAGACAATATAATTCTTGGAGAAGGTGGAATC | |||||||||||||
| Original cDNA sequence snippet | TTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATC | |||||||||||||
| Altered cDNA sequence snippet | TTGCAGAGAAAGACAATATAATTCTTGGAGAAGGTGGAATC | |||||||||||||
| Wildtype AA sequence | MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS EKLEREWDRE LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL LLGRIIASYD PDNKEERSIA IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM QMRIAMFSLI YKKTLKLSSR VLDKISIGQL VSLLSNNLNK FDEGLALAHF VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL IVLALFQAGL GRMMMKYRDQ RAGKISERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IILRKIFTTI SFCIVLRMAV TRQFPWAVQT WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF WEEGFGELFE KAKQNNNNRK TSNGDDSLFF SNFSLLGTPV LKDINFKIER GQLLAVAGST GAGKTSLLMV IMGELEPSEG KIKHSGRISF CSQFSWIMPG TIKENIIFGV SYDEYRYRSV IKACQLEEDI SKFAEKDNIV LGEGGITLSG GQRARISLAR AVYKDADLYL LDSPFGYLDV LTEKEIFESC VCKLMANKTR ILVTSKMEHL KKADKILILH EGSSYFYGTF SELQNLQPDF SSKLMGCDSF DQFSAERRNS ILTETLHRFS LEGDAPVSWT ETKKQSFKQT GEFGEKRKNS ILNPINSIRK FSIVQKTPLQ MNGIEEDSDE PLERRLSLVP DSEQGEAILP RISVISTGPT LQARRRQSVL NLMTHSVNQG QNIHRKTTAS TRKVSLAPQA NLTELDIYSR RLSQETGLEI SEEINEEDLK ECFFDDMESI PAVTTWNTYL RYITVHKSLI FVLIWCLVIF LAEVAASLVV LWLLGNTPLQ DKGNSTHSRN NSYAVIITST SSYYVFYIYV GVADTLLAMG FFRGLPLVHT LITVSKILHH KMLHSVLQAP MSTLNTLKAG GILNRFSKDI AILDDLLPLT IFDFIQLLLI VIGAIAVVAV LQPYIFVATV PVIVAFIMLR AYFLQTSQQL KQLESEGRSP IFTHLVTSLK GLWTLRAFGR QPYFETLFHK ALNLHTANWF LYLSTLRWFQ MRIEMIFVIF FIAVTFISIL TTGEGRVGII LTLAMNIMST LQWAVNSSID VDSLMRSVSR VFKFIDMPTE GKPTKSTKPY KNGQLSKVMI IENSHVKKDD IWPSGGQMTV KDLTAKYTEG GNAILENISF SISPGQRVGL LGRTGSGKST LLSAFLRLLN TEGEIQIDGV SWDSITLQQW RKAFGVIPQK VFIFSGTFRK NLDPYEQWSD QEIWKVADEV GLRSVIEQFP GKLDFVLVDG GCVLSHGHKQ LMCLARSVLS KAKILLLDEP SAHLDPVTYQ IIRRTLKQAF ADCTVILCEH RIEAMLECQQ FLVIEENKVR QYDSIQKLLN ERSLFRQAIS PSDRVKLFPH RNSSKCKSKP QIAALKEETE EEVQDTRL* | |||||||||||||
| Mutated AA sequence | MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS EKLEREWDRE LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL LLGRIIASYD PDNKEERSIA IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM QMRIAMFSLI YKKTLKLSSR VLDKISIGQL VSLLSNNLNK FDEGLALAHF VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL IVLALFQAGL GRMMMKYRDQ RAGKISERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IILRKIFTTI SFCIVLRMAV TRQFPWAVQT WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF WEEGFGELFE KAKQNNNNRK TSNGDDSLFF SNFSLLGTPV LKDINFKIER GQLLAVAGST GAGKTSLLMV IMGELEPSEG KIKHSGRISF CSQFSWIMPG TIKENIIFGV SYDEYRYRSV IKACQLEEDI SKFAEKDNII LGEGGITLSG GQRARISLAR AVYKDADLYL LDSPFGYLDV LTEKEIFESC VCKLMANKTR ILVTSKMEHL KKADKILILH EGSSYFYGTF SELQNLQPDF SSKLMGCDSF DQFSAERRNS ILTETLHRFS LEGDAPVSWT ETKKQSFKQT GEFGEKRKNS ILNPINSIRK FSIVQKTPLQ MNGIEEDSDE PLERRLSLVP DSEQGEAILP RISVISTGPT LQARRRQSVL NLMTHSVNQG QNIHRKTTAS TRKVSLAPQA NLTELDIYSR RLSQETGLEI SEEINEEDLK ECFFDDMESI PAVTTWNTYL RYITVHKSLI FVLIWCLVIF LAEVAASLVV LWLLGNTPLQ DKGNSTHSRN NSYAVIITST SSYYVFYIYV GVADTLLAMG FFRGLPLVHT LITVSKILHH KMLHSVLQAP MSTLNTLKAG GILNRFSKDI AILDDLLPLT IFDFIQLLLI VIGAIAVVAV LQPYIFVATV PVIVAFIMLR AYFLQTSQQL KQLESEGRSP IFTHLVTSLK GLWTLRAFGR QPYFETLFHK ALNLHTANWF LYLSTLRWFQ MRIEMIFVIF FIAVTFISIL TTGEGRVGII LTLAMNIMST LQWAVNSSID VDSLMRSVSR VFKFIDMPTE GKPTKSTKPY KNGQLSKVMI IENSHVKKDD IWPSGGQMTV KDLTAKYTEG GNAILENISF SISPGQRVGL LGRTGSGKST LLSAFLRLLN TEGEIQIDGV SWDSITLQQW RKAFGVIPQK VFIFSGTFRK NLDPYEQWSD QEIWKVADEV GLRSVIEQFP GKLDFVLVDG GCVLSHGHKQ LMCLARSVLS KAKILLLDEP SAHLDPVTYQ IIRRTLKQAF ADCTVILCEH RIEAMLECQQ FLVIEENKVR QYDSIQKLLN ERSLFRQAIS PSDRVKLFPH RNSSKCKSKP QIAALKEETE EEVQDTRL* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 4437 / 4437 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1479 / 1479 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 4544 / 4544 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 108 / 108 | |||||||||||||
| Last intron/exon boundary | 4343 | |||||||||||||
| Theoretical NMD boundary in CDS | 4185 | |||||||||||||
| Length of CDS | 4437 | |||||||||||||
| Coding sequence (CDS) position | 1618 | |||||||||||||
| cDNA position | 1725 | |||||||||||||
| gDNA position | 300653 | |||||||||||||
| Chromosomal position | 117587772 | |||||||||||||
| Speed | 0.09 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 | Chr7:117587772G>A (GRCh38) | ||||||||||||||||||||||||||
| Gene symbol | CFTR | ||||||||||||||||||||||||||
| Gene constraints | LOEUF: 1.15, LOF (oe): 0.99, misssense (oe): 1.08, synonymous (oe): 0.93 (gnomAD) | ||||||||||||||||||||||||||
| Ensembl transcript ID | ENST00000003084.11 | ||||||||||||||||||||||||||
| Genbank transcript ID | NM_000492 (exact from MANE) | ||||||||||||||||||||||||||
| UniProt / AlphaMissense peptide | CFTR_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||||||||||||
| Gene region | CDS | ||||||||||||||||||||||||||
| DNA changes | c.1618G>A g.300653G>A | ||||||||||||||||||||||||||
| 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 | N/A | ||||||||||||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||||||||||||
| Chromosome | 7 | ||||||||||||||||||||||||||
| Strand | 1 | ||||||||||||||||||||||||||
| Original gDNA sequence snippet | TTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATC | ||||||||||||||||||||||||||
| Altered gDNA sequence snippet | TTGCAGAGAAAGACAATATAATTCTTGGAGAAGGTGGAATC | ||||||||||||||||||||||||||
| Original cDNA sequence snippet | TTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATC | ||||||||||||||||||||||||||
| Altered cDNA sequence snippet | TTGCAGAGAAAGACAATATAATTCTTGGAGAAGGTGGAATC | ||||||||||||||||||||||||||
| Wildtype AA sequence | MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS EKLEREWDRE LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL LLGRIIASYD PDNKEERSIA IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM QMRIAMFSLI YKKTLKLSSR VLDKISIGQL VSLLSNNLNK FDEGLALAHF VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL IVLALFQAGL GRMMMKYRDQ RAGKISERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IILRKIFTTI SFCIVLRMAV TRQFPWAVQT WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF WEEGFGELFE KAKQNNNNRK TSNGDDSLFF SNFSLLGTPV LKDINFKIER GQLLAVAGST GAGKTSLLMV IMGELEPSEG KIKHSGRISF CSQFSWIMPG TIKENIIFGV SYDEYRYRSV IKACQLEEDI SKFAEKDNIV LGEGGITLSG GQRARISLAR AVYKDADLYL LDSPFGYLDV LTEKEIFESC VCKLMANKTR ILVTSKMEHL KKADKILILH EGSSYFYGTF SELQNLQPDF SSKLMGCDSF DQFSAERRNS ILTETLHRFS LEGDAPVSWT ETKKQSFKQT GEFGEKRKNS ILNPINSIRK FSIVQKTPLQ MNGIEEDSDE PLERRLSLVP DSEQGEAILP RISVISTGPT LQARRRQSVL NLMTHSVNQG QNIHRKTTAS TRKVSLAPQA NLTELDIYSR RLSQETGLEI SEEINEEDLK ECFFDDMESI PAVTTWNTYL RYITVHKSLI FVLIWCLVIF LAEVAASLVV LWLLGNTPLQ DKGNSTHSRN NSYAVIITST SSYYVFYIYV GVADTLLAMG FFRGLPLVHT LITVSKILHH KMLHSVLQAP MSTLNTLKAG GILNRFSKDI AILDDLLPLT IFDFIQLLLI VIGAIAVVAV LQPYIFVATV PVIVAFIMLR AYFLQTSQQL KQLESEGRSP IFTHLVTSLK GLWTLRAFGR QPYFETLFHK ALNLHTANWF LYLSTLRWFQ MRIEMIFVIF FIAVTFISIL TTGEGEGRVG IILTLAMNIM STLQWAVNSS IDVDSLMRSV SRVFKFIDMP TEGKPTKSTK PYKNGQLSKV MIIENSHVKK DDIWPSGGQM TVKDLTAKYT EGGNAILENI SFSISPGQRV GLLGRTGSGK STLLSAFLRL LNTEGEIQID GVSWDSITLQ QWRKAFGVIP QKVFIFSGTF RKNLDPYEQW SDQEIWKVAD EVGLRSVIEQ FPGKLDFVLV DGGCVLSHGH KQLMCLARSV LSKAKILLLD EPSAHLDPVT YQIIRRTLKQ AFADCTVILC EHRIEAMLEC QQFLVIEENK VRQYDSIQKL LNERSLFRQA ISPSDRVKLF PHRNSSKCKS KPQIAALKEE TEEEVQDTRL * | ||||||||||||||||||||||||||
| Mutated AA sequence | MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS EKLEREWDRE LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL LLGRIIASYD PDNKEERSIA IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM QMRIAMFSLI YKKTLKLSSR VLDKISIGQL VSLLSNNLNK FDEGLALAHF VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL IVLALFQAGL GRMMMKYRDQ RAGKISERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IILRKIFTTI SFCIVLRMAV TRQFPWAVQT WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF WEEGFGELFE KAKQNNNNRK TSNGDDSLFF SNFSLLGTPV LKDINFKIER GQLLAVAGST GAGKTSLLMV IMGELEPSEG KIKHSGRISF CSQFSWIMPG TIKENIIFGV SYDEYRYRSV IKACQLEEDI SKFAEKDNII LGEGGITLSG GQRARISLAR AVYKDADLYL LDSPFGYLDV LTEKEIFESC VCKLMANKTR ILVTSKMEHL KKADKILILH EGSSYFYGTF SELQNLQPDF SSKLMGCDSF DQFSAERRNS ILTETLHRFS LEGDAPVSWT ETKKQSFKQT GEFGEKRKNS ILNPINSIRK FSIVQKTPLQ MNGIEEDSDE PLERRLSLVP DSEQGEAILP RISVISTGPT LQARRRQSVL NLMTHSVNQG QNIHRKTTAS TRKVSLAPQA NLTELDIYSR RLSQETGLEI SEEINEEDLK ECFFDDMESI PAVTTWNTYL RYITVHKSLI FVLIWCLVIF LAEVAASLVV LWLLGNTPLQ DKGNSTHSRN NSYAVIITST SSYYVFYIYV GVADTLLAMG FFRGLPLVHT LITVSKILHH KMLHSVLQAP MSTLNTLKAG GILNRFSKDI AILDDLLPLT IFDFIQLLLI VIGAIAVVAV LQPYIFVATV PVIVAFIMLR AYFLQTSQQL KQLESEGRSP IFTHLVTSLK GLWTLRAFGR QPYFETLFHK ALNLHTANWF LYLSTLRWFQ MRIEMIFVIF FIAVTFISIL TTGEGEGRVG IILTLAMNIM STLQWAVNSS IDVDSLMRSV SRVFKFIDMP TEGKPTKSTK PYKNGQLSKV MIIENSHVKK DDIWPSGGQM TVKDLTAKYT EGGNAILENI SFSISPGQRV GLLGRTGSGK STLLSAFLRL LNTEGEIQID GVSWDSITLQ QWRKAFGVIP QKVFIFSGTF RKNLDPYEQW SDQEIWKVAD EVGLRSVIEQ FPGKLDFVLV DGGCVLSHGH KQLMCLARSV LSKAKILLLD EPSAHLDPVT YQIIRRTLKQ AFADCTVILC EHRIEAMLEC QQFLVIEENK VRQYDSIQKL LNERSLFRQA ISPSDRVKLF PHRNSSKCKS KPQIAALKEE TEEEVQDTRL * | ||||||||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 4443 / 4443 | ||||||||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1481 / 1481 | ||||||||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 4513 / 4513 | ||||||||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 71 / 71 | ||||||||||||||||||||||||||
| Last intron/exon boundary | 4312 | ||||||||||||||||||||||||||
| Theoretical NMD boundary in CDS | 4191 | ||||||||||||||||||||||||||
| Length of CDS | 4443 | ||||||||||||||||||||||||||
| Coding sequence (CDS) position | 1618 | ||||||||||||||||||||||||||
| cDNA position | 1688 | ||||||||||||||||||||||||||
| gDNA position | 300653 | ||||||||||||||||||||||||||
| Chromosomal position | 117587772 | ||||||||||||||||||||||||||
| Speed | 0.10 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 | Chr7:117587772G>A (GRCh38) | ||||||||||||||||||||||||||
| Gene symbol | CFTR | ||||||||||||||||||||||||||
| Gene constraints | LOEUF: 1.17, LOF (oe): 1.00, misssense (oe): 1.09, synonymous (oe): 0.93 (gnomAD) | ||||||||||||||||||||||||||
| Ensembl transcript ID | ENST00000649781.2 | ||||||||||||||||||||||||||
| Genbank transcript ID | |||||||||||||||||||||||||||
| UniProt / AlphaMissense peptide | CFTR_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||||||||||||
| Gene region | CDS | ||||||||||||||||||||||||||
| DNA changes | c.1435G>A g.300653G>A | ||||||||||||||||||||||||||
| 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 | N/A | ||||||||||||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||||||||||||
| Chromosome | 7 | ||||||||||||||||||||||||||
| Strand | 1 | ||||||||||||||||||||||||||
| Original gDNA sequence snippet | TTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATC | ||||||||||||||||||||||||||
| Altered gDNA sequence snippet | TTGCAGAGAAAGACAATATAATTCTTGGAGAAGGTGGAATC | ||||||||||||||||||||||||||
| Original cDNA sequence snippet | TTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATC | ||||||||||||||||||||||||||
| Altered cDNA sequence snippet | TTGCAGAGAAAGACAATATAATTCTTGGAGAAGGTGGAATC | ||||||||||||||||||||||||||
| Wildtype AA sequence | MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS EKLEREWDRE LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL LLGRIIASYD PDNKEERSIA IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM QMRIAMFSLI YKKTLKLSSR VLDKISIGQL VSLLSNNLNK FDEGLALAHF VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL IVLALFQAGL GRMMMKYRDQ RAGKISERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IILRKIFTTI SFCIVLRMAV TRQFPWAVQT WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF WEETSLLMVI MGELEPSEGK IKHSGRISFC SQFSWIMPGT IKENIIFGVS YDEYRYRSVI KACQLEEDIS KFAEKDNIVL GEGGITLSGG QRARISLARA VYKDADLYLL DSPFGYLDVL TEKEIFESCV CKLMANKTRI LVTSKMEHLK KADKILILHE GSSYFYGTFS ELQNLQPDFS SKLMGCDSFD QFSAERRNSI LTETLHRFSL EGDAPVSWTE TKKQSFKQTG EFGEKRKNSI LNPINSIRKF SIVQKTPLQM NGIEEDSDEP LERRLSLVPD SEQGEAILPR ISVISTGPTL QARRRQSVLN LMTHSVNQGQ NIHRKTTAST RKVSLAPQAN LTELDIYSRR LSQETGLEIS EEINEEDLKE CFFDDMESIP AVTTWNTYLR YITVHKSLIF VLIWCLVIFL AEVAASLVVL WLLGNTPLQD KGNSTHSRNN SYAVIITSTS SYYVFYIYVG VADTLLAMGF FRGLPLVHTL ITVSKILHHK MLHSVLQAPM STLNTLKAGG ILNRFSKDIA ILDDLLPLTI FDFIQLLLIV IGAIAVVAVL QPYIFVATVP VIVAFIMLRA YFLQTSQQLK QLESEGRSPI FTHLVTSLKG LWTLRAFGRQ PYFETLFHKA LNLHTANWFL YLSTLRWFQM RIEMIFVIFF IAVTFISILT TGEGEGRVGI ILTLAMNIMS TLQWAVNSSI DVDSLMRSVS RVFKFIDMPT EGKPTKSTKP YKNGQLSKVM IIENSHVKKD DIWPSGGQMT VKDLTAKYTE GGNAILENIS FSISPGQRVG LLGRTGSGKS TLLSAFLRLL NTEGEIQIDG VSWDSITLQQ WRKAFGVIPQ KVFIFSGTFR KNLDPYEQWS DQEIWKVADE VGLRSVIEQF PGKLDFVLVD GGCVLSHGHK QLMCLARSVL SKAKILLLDE PSAHLDPVTY QIIRRTLKQA FADCTVILCE HRIEAMLECQ QFLVIEENKV RQYDSIQKLL NERSLFRQAI SPSDRVKLFP HRNSSKCKSK PQIAALKEET EEEVQDTRL* | ||||||||||||||||||||||||||
| Mutated AA sequence | MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS EKLEREWDRE LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL LLGRIIASYD PDNKEERSIA IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM QMRIAMFSLI YKKTLKLSSR VLDKISIGQL VSLLSNNLNK FDEGLALAHF VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL IVLALFQAGL GRMMMKYRDQ RAGKISERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IILRKIFTTI SFCIVLRMAV TRQFPWAVQT WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF WEETSLLMVI MGELEPSEGK IKHSGRISFC SQFSWIMPGT IKENIIFGVS YDEYRYRSVI KACQLEEDIS KFAEKDNIIL GEGGITLSGG QRARISLARA VYKDADLYLL DSPFGYLDVL TEKEIFESCV CKLMANKTRI LVTSKMEHLK KADKILILHE GSSYFYGTFS ELQNLQPDFS SKLMGCDSFD QFSAERRNSI LTETLHRFSL EGDAPVSWTE TKKQSFKQTG EFGEKRKNSI LNPINSIRKF SIVQKTPLQM NGIEEDSDEP LERRLSLVPD SEQGEAILPR ISVISTGPTL QARRRQSVLN LMTHSVNQGQ NIHRKTTAST RKVSLAPQAN LTELDIYSRR LSQETGLEIS EEINEEDLKE CFFDDMESIP AVTTWNTYLR YITVHKSLIF VLIWCLVIFL AEVAASLVVL WLLGNTPLQD KGNSTHSRNN SYAVIITSTS SYYVFYIYVG VADTLLAMGF FRGLPLVHTL ITVSKILHHK MLHSVLQAPM STLNTLKAGG ILNRFSKDIA ILDDLLPLTI FDFIQLLLIV IGAIAVVAVL QPYIFVATVP VIVAFIMLRA YFLQTSQQLK QLESEGRSPI FTHLVTSLKG LWTLRAFGRQ PYFETLFHKA LNLHTANWFL YLSTLRWFQM RIEMIFVIFF IAVTFISILT TGEGEGRVGI ILTLAMNIMS TLQWAVNSSI DVDSLMRSVS RVFKFIDMPT EGKPTKSTKP YKNGQLSKVM IIENSHVKKD DIWPSGGQMT VKDLTAKYTE GGNAILENIS FSISPGQRVG LLGRTGSGKS TLLSAFLRLL NTEGEIQIDG VSWDSITLQQ WRKAFGVIPQ KVFIFSGTFR KNLDPYEQWS DQEIWKVADE VGLRSVIEQF PGKLDFVLVD GGCVLSHGHK QLMCLARSVL SKAKILLLDE PSAHLDPVTY QIIRRTLKQA FADCTVILCE HRIEAMLECQ QFLVIEENKV RQYDSIQKLL NERSLFRQAI SPSDRVKLFP HRNSSKCKSK PQIAALKEET EEEVQDTRL* | ||||||||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 4260 / 4260 | ||||||||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1420 / 1420 | ||||||||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 4344 / 4344 | ||||||||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 85 / 85 | ||||||||||||||||||||||||||
| Last intron/exon boundary | 4143 | ||||||||||||||||||||||||||
| Theoretical NMD boundary in CDS | 4008 | ||||||||||||||||||||||||||
| Length of CDS | 4260 | ||||||||||||||||||||||||||
| Coding sequence (CDS) position | 1435 | ||||||||||||||||||||||||||
| cDNA position | 1519 | ||||||||||||||||||||||||||
| gDNA position | 300653 | ||||||||||||||||||||||||||
| Chromosomal position | 117587772 | ||||||||||||||||||||||||||
| Speed | 0.10 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 | Chr7:117587772G>A (GRCh38) | |||||||||||||
| Gene symbol | CFTR | |||||||||||||
| Gene constraints | LOEUF: 1.19, LOF (oe): 1.00, misssense (oe): 1.10, synonymous (oe): 0.94 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000649406.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1435G>A g.300653G>A | |||||||||||||
| 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 | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 7 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | TTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATC | |||||||||||||
| Altered gDNA sequence snippet | TTGCAGAGAAAGACAATATAATTCTTGGAGAAGGTGGAATC | |||||||||||||
| Original cDNA sequence snippet | TTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATC | |||||||||||||
| Altered cDNA sequence snippet | TTGCAGAGAAAGACAATATAATTCTTGGAGAAGGTGGAATC | |||||||||||||
| Wildtype AA sequence | MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS EKLEREWDRE LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL LLGRIIASYD PDNKEERSIA IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM QMRIAMFSLI YKKTLKLSSR VLDKISIGQL VSLLSNNLNK FDEGLALAHF VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL IVLALFQAGL GRMMMKYRDQ RAGKISERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IILRKIFTTI SFCIVLRMAV TRQFPWAVQT WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF WEETSLLMVI MGELEPSEGK IKHSGRISFC SQFSWIMPGT IKENIIFGVS YDEYRYRSVI KACQLEEDIS KFAEKDNIVL GEGGITLSGG QRARISLARA VYKDADLYLL DSPFGYLDVL TEKEIFESCV CKLMANKTRI LVTSKMEHLK KADKILILHE GSSYFYGTFS ELQNLQPDFS SKLMGCDSFD QFSAERRNSI LTETLHRFSL EGDAPVSWTE TKKQSFKQTG EFGEKRKNSI LNPINSIRKF SIVQKTPLQM NGIEEDSDEP LERRLSLVPD SEQGEAILPR ISVISTGPTL QARRRQSVLN LMTHSVNQGQ NIHRKTTAST RKVSLAPQAN LTELDIYSRR LSQETGLEIS EEINEEDLKE CFFDDMESIP AVTTWNTYLR YITVHKSLIF VLIWCLVIFL AEVAASLVVL WLLGNTPLQD KGNSTHSRNN SYAVIITSTS SYYVFYIYVG VADTLLAMGF FRGLPLVHTL ITVSKILHHK MLHSVLQAPM STLNTLKAGG ILNRFSKDIA ILDDLLPLTI FDFIQLLLIV IGAIAVVAVL QPYIFVATVP VIVAFIMLRA YFLQTSQQLK QLESEGRSPI FTHLVTSLKG LWTLRAFGRQ PYFETLFHKA LNLHTANWFL YLSTLRWFQM RIEMIFVIFF IAVTFISILT TGEGEGRVGI ILTLAMNIMS TLQWAVNSSI DVDSLMRSVS RVFKFIDMPT EGKPTKSTKP YKNGQLSKVM IIENSHVKKD DIWPSGGQMT VKDLTAKYTE GGNAILENIS FSISPGQRVR FEHCLLC* | |||||||||||||
| Mutated AA sequence | MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS EKLEREWDRE LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL LLGRIIASYD PDNKEERSIA IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM QMRIAMFSLI YKKTLKLSSR VLDKISIGQL VSLLSNNLNK FDEGLALAHF VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL IVLALFQAGL GRMMMKYRDQ RAGKISERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IILRKIFTTI SFCIVLRMAV TRQFPWAVQT WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF WEETSLLMVI MGELEPSEGK IKHSGRISFC SQFSWIMPGT IKENIIFGVS YDEYRYRSVI KACQLEEDIS KFAEKDNIIL GEGGITLSGG QRARISLARA VYKDADLYLL DSPFGYLDVL TEKEIFESCV CKLMANKTRI LVTSKMEHLK KADKILILHE GSSYFYGTFS ELQNLQPDFS SKLMGCDSFD QFSAERRNSI LTETLHRFSL EGDAPVSWTE TKKQSFKQTG EFGEKRKNSI LNPINSIRKF SIVQKTPLQM NGIEEDSDEP LERRLSLVPD SEQGEAILPR ISVISTGPTL QARRRQSVLN LMTHSVNQGQ NIHRKTTAST RKVSLAPQAN LTELDIYSRR LSQETGLEIS EEINEEDLKE CFFDDMESIP AVTTWNTYLR YITVHKSLIF VLIWCLVIFL AEVAASLVVL WLLGNTPLQD KGNSTHSRNN SYAVIITSTS SYYVFYIYVG VADTLLAMGF FRGLPLVHTL ITVSKILHHK MLHSVLQAPM STLNTLKAGG ILNRFSKDIA ILDDLLPLTI FDFIQLLLIV IGAIAVVAVL QPYIFVATVP VIVAFIMLRA YFLQTSQQLK QLESEGRSPI FTHLVTSLKG LWTLRAFGRQ PYFETLFHKA LNLHTANWFL YLSTLRWFQM RIEMIFVIFF IAVTFISILT TGEGEGRVGI ILTLAMNIMS TLQWAVNSSI DVDSLMRSVS RVFKFIDMPT EGKPTKSTKP YKNGQLSKVM IIENSHVKKD DIWPSGGQMT VKDLTAKYTE GGNAILENIS FSISPGQRVR FEHCLLC* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3564 / 3564 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1188 / 1188 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3648 / 3648 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 85 / 85 | |||||||||||||
| Last intron/exon boundary | 3369 | |||||||||||||
| Theoretical NMD boundary in CDS | 3234 | |||||||||||||
| Length of CDS | 3564 | |||||||||||||
| Coding sequence (CDS) position | 1435 | |||||||||||||
| cDNA position | 1519 | |||||||||||||
| gDNA position | 300653 | |||||||||||||
| Chromosomal position | 117587772 | |||||||||||||
| Speed | 0.07 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 | Chr7:117587772G>A (GRCh38) | |||||||||||||
| Gene symbol | CFTR | |||||||||||||
| Gene constraints | LOEUF: 1.29, LOF (oe): 1.05, misssense (oe): 1.14, synonymous (oe): 1.00 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000648260.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.1402-15054G>A g.300653G>A | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| 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? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 7 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | TTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATC | |||||||||||||
| Altered gDNA sequence snippet | TTGCAGAGAAAGACAATATAATTCTTGGAGAAGGTGGAATC | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS EKLEREWDRE LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL LLGRIIASYD PDNKEERSIA IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM QMRIAMFSLI YKKTLKLSSR VLDKISIGQL VSLLSNNLNK FDEGLALAHF VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL IVLALFQAGL GRMMMKYRDQ RAGKISERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IILRKIFTTI SFCIVLRMAV TRQFPWAVQT WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF WEETSLLMVI MGELEPSEGK IKHSGRISFC SQFSWIMPGT IKENIIFGVS YDEYRYRSVI KACQLEEVAA SLVVLWLLGN TPLQDKGNST HSRNNSYAVI ITSTSSYYVF YIYVGVADTL LAMGFFRGLP LVHTLITVSK ILHHKMLHSV LQAPMSTLNT LKAGGILNRF SKDIAILDDL LPLTIFDFIQ LLLIVIGAIA VVAVLQPYIF VATVPVIVAF IMLRAYFLQT SQQLKQLESE GRSPIFTHLV TSLKGLWTLR AFGRQPYFET LFHKALNLHT ANWFLYLSTL RWFQMRIEMI FVIFFIAVTF ISILTTGEGE GRVGIILTLA MNIMSTLQWA VNSSIDVDSL MRSVSRVFKF IDMPTEGKPT KSTKPYKNGQ LSKVMIIENS HVKKDDIWPS GGQMTVKDLT AKYTEGGNAI LENISFSISP GQRVRFEHCL LC* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 85 / 85 | |||||||||||||
| Last intron/exon boundary | 2334 | |||||||||||||
| Theoretical NMD boundary in CDS | 2199 | |||||||||||||
| Length of CDS | 2529 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 300653 | |||||||||||||
| Chromosomal position | 117587772 | |||||||||||||
| 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