| 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 | 57|43 | 3utr | No | Yes | Deletion | N/A |
| |||||
| CFTR | Deleterious | 95|5 | simple_ | No | Yes | Deletion | Deletion of 1 or 2 AA |
| |||||
ENST00000003084(MANE Select) | CFTR | Deleterious | 97|3 | simple_ | No | Yes | Deletion | Deletion of 1 or 2 AA |
| ||||
| CFTR | Deleterious | 99|1 | simple_ | No | Yes | Deletion | Deletion of 1 or 2 AA |
| |||||
| CFTR | Deleterious | 99|1 | simple_ | No | Yes | Deletion | Deletion of 1 or 2 AA |
| |||||
| CFTR | Deleterious | 99|1 | simple_ | No | Yes | Deletion | Deletion of 1 or 2 AA |
| |||||
| CFTR | Deleterious | 99|1 | simple_ | No | Yes | Deletion | Deletion of 1 or 2 AA |
| |||||
| CFTR | Deleterious | 100|0 | simple_ | No | Yes | Deletion | Deletion of 1 or 2 AA |
|
| Analysed issue | Analysis result | |||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr7:117559591_117559593delTCT (GRCh38) | |||||||||||||||||||
| Gene symbol | CFTR | |||||||||||||||||||
| Gene constraints | no data | |||||||||||||||||||
| Ensembl transcript ID | ENST00000699597.1 | |||||||||||||||||||
| Genbank transcript ID | ||||||||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||||||||
| Variant type | Deletion | |||||||||||||||||||
| Gene region | 3'UTR | |||||||||||||||||||
| DNA changes | cDNA.1622_1624delTCT g.272472_272474delTCT | |||||||||||||||||||
| AA changes | N/A | |||||||||||||||||||
| Frameshift | No | |||||||||||||||||||
| Length of protein | N/A | |||||||||||||||||||
| Pathogenic variant (ClinVar) |
| |||||||||||||||||||
| 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 | unique in [sequence type]: position, polyA signal, score unique in >mutated: 365661, AATAAA, 0.370894 unique in >mutated: 342170, AATAAA, 0.259966 unique in >mutated: 387227, AATAAA, 0.586908 unique in >mutated: 331246, AATAAA, 0.314851 unique in >mutated: 374306, AATAAA, 0.212471 unique in >mutated: 309741, AATAAA, 0.257430 unique in >mutated: 371826, AATAAA, 0.287632 unique in >mutated: 424697, AATAAA, 0.317126 unique in >mutated: 398080, AATAAA, 0.349144 unique in >mutated: 373151, AATAAA, 0.319035 unique in >mutated: 386237, AATAAA, 0.423872 unique in >mutated: 312007, AATAAA, 0.662222 unique in >mutated: 308377, AATAAA, 0.343256 unique in >mutated: 387232, AATAAA, 0.633527 unique in >mutated: 295968, AATAAA, 0.369886 unique in >mutated: 376027, AATAAA, 0.326165 unique in >mutated: 362209, AATAAA, 0.296177 unique in >mutated: 280789, AATAAA, 0.237739 unique in >mutated: 320241, AATAAA, 0.203231 unique in >mutated: 303803, AATAAA, 0.246162 unique in >mutated: 329697, AATAAA, 0.241432 unique in >mutated: 356110, AATAAA, 0.332337 unique in >mutated: 342099, AATAAA, 0.252469 unique in >mutated: 367664, AATAAA, 0.510947 unique in >mutated: 383518, AATAAA, 0.459963 unique in >mutated: 313484, AATAAA, 0.475151 unique in >mutated: 303187, AATAAA, 0.219504 unique in >mutated: 366238, AATAAA, 0.222347 unique in >mutated: 371364, AATAAA, 0.339256 unique in >mutated: 327365, AATAAA, 0.322743 unique in >mutated: 296230, AATAAA, 0.312690 unique in >mutated: 294182, AATAAA, 0.258017 unique in >mutated: 330249, AATAAA, 0.578582 unique in >mutated: 430600, AATAAA, 0.579401 unique in >mutated: 342921, AATAAA, 0.201082 unique in >mutated: 401049, AATAAA, 0.338910 unique in >mutated: 423352, AATAAA, 0.245399 unique in >mutated: 290672, AATAAA, 0.252424 unique in >mutated: 424247, AATAAA, 0.452926 unique in >mutated: 429520, AATAAA, 0.210819 unique in >mutated: 278149, AATAAA, 0.321477 unique in >mutated: 315146, AATAAA, 0.224570 unique in >mutated: 275963, AATAAA, 0.368542 unique in >mutated: 314054, AATAAA, 0.206697 unique in >mutated: 419422, AATAAA, 0.317564 unique in >mutated: 311932, AATAAA, 0.327412 unique in >mutated: 323696, AATAAA, 0.534838 unique in >mutated: 286481, AATAAA, 0.228797 unique in >mutated: 325319, AATAAA, 0.264951 unique in >mutated: 388273, AATAAA, 0.537032 unique in >mutated: 326740, AATAAA, 0.316740 unique in >mutated: 391237, AATAAA, 0.350075 unique in >mutated: 278668, AATAAA, 0.463545 unique in >mutated: 278631, AATAAA, 0.265437 unique in >mutated: 298335, AATAAA, 0.210180 unique in >mutated: 333390, AATAAA, 0.292438 unique in >mutated: 401660, AATAAA, 0.241126 unique in >mutated: 350611, AATAAA, 0.206664 unique in >mutated: 305358, AATAAA, 0.212071 unique in >mutated: 288158, AATAAA, 0.238036 unique in >mutated: 306764, AATAAA, 0.309592 unique in >mutated: 432187, AATAAA, 0.370089 unique in >mutated: 310604, ATTAAA, 0.461394 unique in >mutated: 287892, ATTAAA, 0.132443 unique in >mutated: 310434, ATTAAA, 0.140146 unique in >mutated: 306253, ATTAAA, 0.122831 unique in >mutated: 381076, ATTAAA, 0.112538 unique in >mutated: 342767, ATTAAA, 0.116663 unique in >mutated: 280822, ATTAAA, 0.091674 unique in >mutated: 344441, ATTAAA, 0.139754 unique in >mutated: 282433, ATTAAA, 0.110703 unique in >mutated: 315002, ATTAAA, 0.159855 unique in >mutated: 280179, ATTAAA, 0.171050 unique in >mutated: 422086, ATTAAA, 0.095763 unique in >mutated: 340056, ATTAAA, 0.111373 unique in >mutated: 416940, ATTAAA, 0.165078 unique in >mutated: 331242, ATTAAA, 0.168244 unique in >mutated: 296949, ATTAAA, 0.135553 unique in >mutated: 288653, ATTAAA, 0.104065 unique in >mutated: 336554, ATTAAA, 0.102386 unique in >mutated: 342917, ATTAAA, 0.091035 unique in >mutated: 295704, ATTAAA, 0.122032 unique in >mutated: 380113, ATTAAA, 0.119986 unique in >mutated: 354419, ATTAAA, 0.124202 unique in >mutated: 400764, ATTAAA, 0.265284 unique in >mutated: 321669, ATTAAA, 0.104908 unique in >mutated: 330620, ATTAAA, 0.138883 unique in >mutated: 317789, ATTAAA, 0.164274 unique in >mutated: 320715, ATTAAA, 0.083571 unique in >mutated: 310474, ATTAAA, 0.220913 unique in >mutated: 401052, AATAAA, 0.338910 unique in >mutated: 314057, AATAAA, 0.206697 unique in >mutated: 309744, AATAAA, 0.257430 unique in >mutated: 306767, AATAAA, 0.309592 unique in >mutated: 350614, AATAAA, 0.206664 unique in >mutated: 356113, AATAAA, 0.332337 unique in >mutated: 401663, AATAAA, 0.241126 unique in >mutated: 308380, AATAAA, 0.343256 unique in >mutated: 376030, AATAAA, 0.326165 unique in >mutated: 387230, AATAAA, 0.586908 unique in >mutated: 296233, AATAAA, 0.312690 unique in >mutated: 430603, AATAAA, 0.579401 unique in >mutated: 315149, AATAAA, 0.224570 unique in >mutated: 312010, AATAAA, 0.662222 unique in >mutated: 342924, AATAAA, 0.201082 unique in >mutated: 330252, AATAAA, 0.578582 unique in >mutated: 294185, AATAAA, 0.258017 unique in >mutated: 342102, AATAAA, 0.252469 unique in >mutated: 290675, AATAAA, 0.252424 unique in >mutated: 298338, AATAAA, 0.210180 unique in >mutated: 424250, AATAAA, 0.452926 unique in >mutated: 429523, AATAAA, 0.210819 unique in >mutated: 295971, AATAAA, 0.369886 unique in >mutated: 313487, AATAAA, 0.475151 unique in >mutated: 288161, AATAAA, 0.238036 unique in >mutated: 286484, AATAAA, 0.228797 unique in >mutated: 327368, AATAAA, 0.322743 unique in >mutated: 423355, AATAAA, 0.245399 unique in >mutated: 362212, AATAAA, 0.296177 unique in >mutated: 278152, AATAAA, 0.321477 unique in >mutated: 303806, AATAAA, 0.246162 unique in >mutated: 391240, AATAAA, 0.350075 unique in >mutated: 374309, AATAAA, 0.212471 unique in >mutated: 278671, AATAAA, 0.463545 unique in >mutated: 424700, AATAAA, 0.317126 unique in >mutated: 275966, AATAAA, 0.368542 unique in >mutated: 329700, AATAAA, 0.241432 unique in >mutated: 305361, AATAAA, 0.212071 unique in >mutated: 398083, AATAAA, 0.349144 unique in >mutated: 326743, AATAAA, 0.316740 unique in >mutated: 303190, AATAAA, 0.219504 unique in >mutated: 320244, AATAAA, 0.203231 unique in >mutated: 373154, AATAAA, 0.319035 unique in >mutated: 419425, AATAAA, 0.317564 unique in >mutated: 280792, AATAAA, 0.237739 unique in >mutated: 278634, AATAAA, 0.265437 unique in >mutated: 333393, AATAAA, 0.292438 unique in >mutated: 342173, AATAAA, 0.259966 unique in >mutated: 371829, AATAAA, 0.287632 unique in >mutated: 432190, AATAAA, 0.370089 unique in >mutated: 383521, AATAAA, 0.459963 unique in >mutated: 323699, AATAAA, 0.534838 unique in >mutated: 367667, AATAAA, 0.510947 unique in >mutated: 366241, AATAAA, 0.222347 unique in >mutated: 311935, AATAAA, 0.327412 unique in >mutated: 371367, AATAAA, 0.339256 unique in >mutated: 387235, AATAAA, 0.633527 unique in >mutated: 331249, AATAAA, 0.314851 unique in >mutated: 386240, AATAAA, 0.423872 unique in >mutated: 325322, AATAAA, 0.264951 unique in >mutated: 388276, AATAAA, 0.537032 unique in >mutated: 365664, AATAAA, 0.370894 unique in >mutated: 354422, ATTAAA, 0.124202 unique in >mutated: 288656, ATTAAA, 0.104065 unique in >mutated: 295707, ATTAAA, 0.122032 unique in >mutated: 344444, ATTAAA, 0.139754 unique in >mutated: 282436, ATTAAA, 0.110703 unique in >mutated: 296952, ATTAAA, 0.135553 unique in >mutated: 321672, ATTAAA, 0.104908 unique in >mutated: 336557, ATTAAA, 0.102386 unique in >mutated: 310607, ATTAAA, 0.461394 unique in >mutated: 287895, ATTAAA, 0.132443 unique in >mutated: 342770, ATTAAA, 0.116663 unique in >mutated: 280825, ATTAAA, 0.091674 unique in >mutated: 416943, ATTAAA, 0.165078 unique in >mutated: 400767, ATTAAA, 0.265284 unique in >mutated: 422089, ATTAAA, 0.095763 unique in >mutated: 340059, ATTAAA, 0.111373 unique in >mutated: 310437, ATTAAA, 0.140146 unique in >mutated: 315005, ATTAAA, 0.159855 unique in >mutated: 280182, ATTAAA, 0.171050 unique in >mutated: 330623, ATTAAA, 0.138883 unique in >mutated: 317792, ATTAAA, 0.164274 unique in >mutated: 310477, ATTAAA, 0.220913 unique in >mutated: 342920, ATTAAA, 0.091035 unique in >mutated: 381079, ATTAAA, 0.112538 unique in >mutated: 320718, ATTAAA, 0.083571 unique in >mutated: 380116, ATTAAA, 0.119986 unique in >mutated: 331245, ATTAAA, 0.168244 unique in >mutated: 306256, ATTAAA, 0.122831 | |||||||||||||||||||
| AA sequence altered | N/A | |||||||||||||||||||
| Chromosome | 7 | |||||||||||||||||||
| Strand | 1 | |||||||||||||||||||
| Original gDNA sequence snippet | CACCATTAAAGAAAATATCATCTTTGGTGTTTCCTATGATGAA | |||||||||||||||||||
| Altered gDNA sequence snippet | CACCATTAAAGAAAATATCATTGGTGTTTCCTATGATGAA | |||||||||||||||||||
| Original cDNA sequence snippet | CACCATTAAAGAAAATATCATCTTTGGTGTTTCCTATGATGAA | |||||||||||||||||||
| Altered cDNA sequence snippet | CACCATTAAAGAAAATATCATTGGTGTTTCCTATGATGAA | |||||||||||||||||||
| 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 GADFTSNGDY GRTGAFRG* | |||||||||||||||||||
| 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 | 108 / 108 | |||||||||||||||||||
| Last intron/exon boundary | 1494 | |||||||||||||||||||
| Theoretical NMD boundary in CDS | 1336 | |||||||||||||||||||
| Length of CDS | 1437 | |||||||||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||||||||
| cDNA position | 1621 / 1625 | |||||||||||||||||||
| gDNA position | 272471 / 272475 | |||||||||||||||||||
| Chromosomal position | 117559590 / 117559594 | |||||||||||||||||||
| Speed | 0.11 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 | Chr7:117559591_117559593delTCT (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 | Deletion | ||||||||||||||||||||||||||
| Gene region | CDS | ||||||||||||||||||||||||||
| DNA changes | c.1337_1339delTCT g.272472_272474delTCT | ||||||||||||||||||||||||||
| AA changes | deletion of 1 or 2 AA
| ||||||||||||||||||||||||||
| Frameshift | No | ||||||||||||||||||||||||||
| Length of protein | Deletion of 1 or 2 AA | ||||||||||||||||||||||||||
| Pathogenic variant (ClinVar) |
| ||||||||||||||||||||||||||
| 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 | CACCATTAAAGAAAATATCATCTTTGGTGTTTCCTATGATGAA | ||||||||||||||||||||||||||
| Altered gDNA sequence snippet | CACCATTAAAGAAAATATCATTGGTGTTTCCTATGATGAA | ||||||||||||||||||||||||||
| Original cDNA sequence snippet | CACCATTAAAGAAAATATCATCTTTGGTGTTTCCTATGATGAA | ||||||||||||||||||||||||||
| Altered cDNA sequence snippet | CACCATTAAAGAAAATATCATTGGTGTTTCCTATGATGAA | ||||||||||||||||||||||||||
| 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 IKENIIGVSY 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* | ||||||||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 4260 / 4257 | ||||||||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1420 / 1419 | ||||||||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 4344 / 4341 | ||||||||||||||||||||||||||
| 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 | 1336 / 1340 | ||||||||||||||||||||||||||
| cDNA position | 1420 / 1424 | ||||||||||||||||||||||||||
| gDNA position | 272471 / 272475 | ||||||||||||||||||||||||||
| Chromosomal position | 117559590 / 117559594 | ||||||||||||||||||||||||||
| 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 | Chr7:117559591_117559593delTCT (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 | Deletion | |||||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||||
| DNA changes | c.1520_1522delTCT g.272472_272474delTCT | |||||||||||||||||||||
| AA changes | deletion of 1 or 2 AA
| |||||||||||||||||||||
| Frameshift | No | |||||||||||||||||||||
| Length of protein | Deletion of 1 or 2 AA | |||||||||||||||||||||
| Pathogenic variant (ClinVar) |
| |||||||||||||||||||||
| 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 | CACCATTAAAGAAAATATCATCTTTGGTGTTTCCTATGATGAA | |||||||||||||||||||||
| Altered gDNA sequence snippet | CACCATTAAAGAAAATATCATTGGTGTTTCCTATGATGAA | |||||||||||||||||||||
| Original cDNA sequence snippet | CACCATTAAAGAAAATATCATCTTTGGTGTTTCCTATGATGAA | |||||||||||||||||||||
| Altered cDNA sequence snippet | CACCATTAAAGAAAATATCATTGGTGTTTCCTATGATGAA | |||||||||||||||||||||
| 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 TIKENIIGVS 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* | |||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 4443 / 4440 | |||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1481 / 1480 | |||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 4513 / 4510 | |||||||||||||||||||||
| 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 | 1519 / 1523 | |||||||||||||||||||||
| cDNA position | 1589 / 1593 | |||||||||||||||||||||
| gDNA position | 272471 / 272475 | |||||||||||||||||||||
| Chromosomal position | 117559590 / 117559594 | |||||||||||||||||||||
| Speed | 0.06 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 | Chr7:117559591_117559593delTCT (GRCh38) | |||||||||||||||||||
| Gene symbol | CFTR | |||||||||||||||||||
| Gene constraints | no data | |||||||||||||||||||
| Ensembl transcript ID | ENST00000699596.1 | |||||||||||||||||||
| Genbank transcript ID | ||||||||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||||||||
| Variant type | Deletion | |||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||
| DNA changes | c.1520_1522delTCT g.272472_272474delTCT | |||||||||||||||||||
| AA changes | deletion of 1 or 2 AA
| |||||||||||||||||||
| Frameshift | No | |||||||||||||||||||
| Length of protein | Deletion of 1 or 2 AA | |||||||||||||||||||
| Pathogenic variant (ClinVar) |
| |||||||||||||||||||
| 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 | CACCATTAAAGAAAATATCATCTTTGGTGTTTCCTATGATGAA | |||||||||||||||||||
| Altered gDNA sequence snippet | CACCATTAAAGAAAATATCATTGGTGTTTCCTATGATGAA | |||||||||||||||||||
| Original cDNA sequence snippet | CACCATTAAAGAAAATATCATCTTTGGTGTTTCCTATGATGAA | |||||||||||||||||||
| Altered cDNA sequence snippet | CACCATTAAAGAAAATATCATTGGTGTTTCCTATGATGAA | |||||||||||||||||||
| 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 IKACQLEEVR NYVKTF* | |||||||||||||||||||
| 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 TIKENIIGVS YDEYRYRSVI KACQLEEVRN YVKTF* | |||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 1611 / 1608 | |||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 537 / 536 | |||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 1718 / 1715 | |||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 108 / 108 | |||||||||||||||||||
| Last intron/exon boundary | 1499 | |||||||||||||||||||
| Theoretical NMD boundary in CDS | 1341 | |||||||||||||||||||
| Length of CDS | 1611 | |||||||||||||||||||
| Coding sequence (CDS) position | 1519 / 1523 | |||||||||||||||||||
| cDNA position | 1626 / 1630 | |||||||||||||||||||
| gDNA position | 272471 / 272475 | |||||||||||||||||||
| Chromosomal position | 117559590 / 117559594 | |||||||||||||||||||
| Speed | 0.05 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 | Chr7:117559591_117559593delTCT (GRCh38) | |||||||||||||||||||
| Gene symbol | CFTR | |||||||||||||||||||
| Gene constraints | no data | |||||||||||||||||||
| Ensembl transcript ID | ENST00000699605.1 | |||||||||||||||||||
| Genbank transcript ID | ||||||||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||||||||
| Variant type | Deletion | |||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||
| DNA changes | c.1094_1096delTCT g.272472_272474delTCT | |||||||||||||||||||
| AA changes | deletion of 1 or 2 AA
| |||||||||||||||||||
| Frameshift | No | |||||||||||||||||||
| Length of protein | Deletion of 1 or 2 AA | |||||||||||||||||||
| Pathogenic variant (ClinVar) |
| |||||||||||||||||||
| 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 | CACCATTAAAGAAAATATCATCTTTGGTGTTTCCTATGATGAA | |||||||||||||||||||
| Altered gDNA sequence snippet | CACCATTAAAGAAAATATCATTGGTGTTTCCTATGATGAA | |||||||||||||||||||
| Original cDNA sequence snippet | CACCATTAAAGAAAATATCATCTTTGGTGTTTCCTATGATGAA | |||||||||||||||||||
| Altered cDNA sequence snippet | CACCATTAAAGAAAATATCATTGGTGTTTCCTATGATGAA | |||||||||||||||||||
| 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 KENIIGVSYD EYRYRSVIKA CQLEEDISKF AEKDNIVLGE GGITLSGGQR ARISLARAVY KDADLYLLDS PFGYLDVLTE KEIFESCVCK LMANKTRILV TSKMEHLKKA DKILILHEGS SYFYGTFSEL QNLQPDFSSK LMGCDSFDQF SAERRNSILT ETLHRFSLEG DAPVSWTETK KQSFKQTGEF GEKRKNSILN PINSIRKFSI VQKTPLQMNG IEEDSDEPLE RRLSLVPDSE QGEAILPRIS VISTGPTLQA RRRQSVLNLM THSVNQGQNI HRKTTASTRK VSLAPQANLT ELDIYSRRLS QETGLEISEE INEEDLKECF FDDMESIPAV TTWNTYLRYI TVHKSLIFVL IWCLVIFLAE VAASLVVLWL LGNTPLQDKG NSTHSRNNSY AVIITSTSSY YVFYIYVGVA DTLLAMGFFR GLPLVHTLIT VSKILHHKML HSVLQAPMST LNTLKAGGIL NRFSKDIAIL DDLLPLTIFD FIQLLLIVIG AIAVVAVLQP YIFVATVPVI VAFIMLRAYF LQTSQQLKQL ESEGRSPIFT HLVTSLKGLW TLRAFGRQPY FETLFHKALN LHTANWFLYL STLRWFQMRI EMIFVIFFIA VTFISILTTG EGEGRVGIIL TLAMNIMSTL QWAVNSSIDV DSLMRSVSRV FKFIDMPTEG KPTKSTKPYK NGQLSKVMII ENSHVKKDDI WPSGGQMTVK DLTAKYTEGG NAILENISFS ISPGQRVGLL GRTGSGKSTL LSAFLRLLNT EGEIQIDGVS WDSITLQQWR KAFGVIPQKV FIFSGTFRKN LDPYEQWSDQ EIWKVADEVG LRSVIEQFPG KLDFVLVDGG CVLSHGHKQL MCLARSVLSK AKILLLDEPS AHLDPVTYQI IRRTLKQAFA DCTVILCEHR IEAMLECQQF LVIEENKVRQ YDSIQKLLNE RSLFRQAISP SDRVKLFPHR NSSKCKSKPQ IAALKEETEE EVQDTRL* | |||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 4017 / 4014 | |||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1339 / 1338 | |||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 4439 / 4436 | |||||||||||||||||||
| 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 | 1093 / 1097 | |||||||||||||||||||
| cDNA position | 1515 / 1519 | |||||||||||||||||||
| gDNA position | 272471 / 272475 | |||||||||||||||||||
| Chromosomal position | 117559590 / 117559594 | |||||||||||||||||||
| 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 | Chr7:117559591_117559593delTCT (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 | Deletion | |||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||
| DNA changes | c.1337_1339delTCT g.272472_272474delTCT | |||||||||||||||||||
| AA changes | deletion of 1 or 2 AA
| |||||||||||||||||||
| Frameshift | No | |||||||||||||||||||
| Length of protein | Deletion of 1 or 2 AA | |||||||||||||||||||
| Pathogenic variant (ClinVar) |
| |||||||||||||||||||
| 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 | CACCATTAAAGAAAATATCATCTTTGGTGTTTCCTATGATGAA | |||||||||||||||||||
| Altered gDNA sequence snippet | CACCATTAAAGAAAATATCATTGGTGTTTCCTATGATGAA | |||||||||||||||||||
| Original cDNA sequence snippet | CACCATTAAAGAAAATATCATCTTTGGTGTTTCCTATGATGAA | |||||||||||||||||||
| Altered cDNA sequence snippet | CACCATTAAAGAAAATATCATTGGTGTTTCCTATGATGAA | |||||||||||||||||||
| 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 IKENIIGVSY 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 SISPGQRVRF EHCLLC* | |||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 3564 / 3561 | |||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1188 / 1187 | |||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 3648 / 3645 | |||||||||||||||||||
| 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 | 1336 / 1340 | |||||||||||||||||||
| cDNA position | 1420 / 1424 | |||||||||||||||||||
| gDNA position | 272471 / 272475 | |||||||||||||||||||
| Chromosomal position | 117559590 / 117559594 | |||||||||||||||||||
| 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 | Chr7:117559591_117559593delTCT (GRCh38) | |||||||||||||||||||
| Gene symbol | CFTR | |||||||||||||||||||
| Gene constraints | no data | |||||||||||||||||||
| Ensembl transcript ID | ENST00000699602.1 | |||||||||||||||||||
| Genbank transcript ID | ||||||||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||||||||
| Variant type | Deletion | |||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||
| DNA changes | c.1520_1522delTCT g.272472_272474delTCT | |||||||||||||||||||
| AA changes | deletion of 1 or 2 AA
| |||||||||||||||||||
| Frameshift | No | |||||||||||||||||||
| Length of protein | Deletion of 1 or 2 AA | |||||||||||||||||||
| Pathogenic variant (ClinVar) |
| |||||||||||||||||||
| 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 | CACCATTAAAGAAAATATCATCTTTGGTGTTTCCTATGATGAA | |||||||||||||||||||
| Altered gDNA sequence snippet | CACCATTAAAGAAAATATCATTGGTGTTTCCTATGATGAA | |||||||||||||||||||
| Original cDNA sequence snippet | CACCATTAAAGAAAATATCATCTTTGGTGTTTCCTATGATGAA | |||||||||||||||||||
| Altered cDNA sequence snippet | CACCATTAAAGAAAATATCATTGGTGTTTCCTATGATGAA | |||||||||||||||||||
| 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 TIKENIIGVS 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 TGEGRVGIIL TLAMNIMSTL QWAVNSSIDV DSLMRSVSRV FKFIDMPTEG KPTKSTKPYK NGQLSKVMII ENSHVKKDDI WPSGGQMTVK DLTAKYTEGG NAILENISFS ISPGQRVGLL GRTGSGKSTL LSAFLRLLNT EGEIQIDGVS WDSITLQQWR KAFGVIPQKV FIFSGTFRKN LDPYEQWSDQ EIWKVADEVG LRSVIEQFPG KLDFVLVDGG CVLSHGHKQL MCLARSVLSK AKILLLDEPS AHLDPVTYQI IRRTLKQAFA DCTVILCEHR IEAMLECQQF LVIEENKVRQ YDSIQKLLNE RSLFRQAISP SDRVKLFPHR NSSKCKSKPQ IAALKEETEE EVQDTRL* | |||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 4437 / 4434 | |||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1479 / 1478 | |||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 4544 / 4541 | |||||||||||||||||||
| 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 | 1519 / 1523 | |||||||||||||||||||
| cDNA position | 1626 / 1630 | |||||||||||||||||||
| gDNA position | 272471 / 272475 | |||||||||||||||||||
| Chromosomal position | 117559590 / 117559594 | |||||||||||||||||||
| 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 | Chr7:117559591_117559593delTCT (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 | Deletion | |||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||
| DNA changes | c.1337_1339delTCT g.272472_272474delTCT | |||||||||||||||||||
| AA changes | deletion of 1 or 2 AA
| |||||||||||||||||||
| Frameshift | No | |||||||||||||||||||
| Length of protein | Deletion of 1 or 2 AA | |||||||||||||||||||
| Pathogenic variant (ClinVar) |
| |||||||||||||||||||
| 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 | CACCATTAAAGAAAATATCATCTTTGGTGTTTCCTATGATGAA | |||||||||||||||||||
| Altered gDNA sequence snippet | CACCATTAAAGAAAATATCATTGGTGTTTCCTATGATGAA | |||||||||||||||||||
| Original cDNA sequence snippet | CACCATTAAAGAAAATATCATCTTTGGTGTTTCCTATGATGAA | |||||||||||||||||||
| Altered cDNA sequence snippet | CACCATTAAAGAAAATATCATTGGTGTTTCCTATGATGAA | |||||||||||||||||||
| 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 | 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 IKENIIGVSY DEYRYRSVIK ACQLEEVAAS LVVLWLLGNT PLQDKGNSTH SRNNSYAVII TSTSSYYVFY IYVGVADTLL AMGFFRGLPL VHTLITVSKI LHHKMLHSVL QAPMSTLNTL KAGGILNRFS KDIAILDDLL PLTIFDFIQL LLIVIGAIAV VAVLQPYIFV ATVPVIVAFI MLRAYFLQTS QQLKQLESEG RSPIFTHLVT SLKGLWTLRA FGRQPYFETL FHKALNLHTA NWFLYLSTLR WFQMRIEMIF VIFFIAVTFI SILTTGEGEG RVGIILTLAM NIMSTLQWAV NSSIDVDSLM RSVSRVFKFI DMPTEGKPTK STKPYKNGQL SKVMIIENSH VKKDDIWPSG GQMTVKDLTA KYTEGGNAIL ENISFSISPG QRVRFEHCLL C* | |||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 2529 / 2526 | |||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 843 / 842 | |||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 2613 / 2610 | |||||||||||||||||||
| 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 | 1336 / 1340 | |||||||||||||||||||
| cDNA position | 1420 / 1424 | |||||||||||||||||||
| gDNA position | 272471 / 272475 | |||||||||||||||||||
| Chromosomal position | 117559590 / 117559594 | |||||||||||||||||||
| 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