| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AKAP9 | Deleterious | 87|13 | simple_ | No | Single base exchange | Normal |
| ||||||
| AKAP9 | Deleterious | 88|12 | simple_ | No | Single base exchange | Normal |
| ||||||
| AKAP9 | Deleterious | 88|12 | simple_ | No | Single base exchange | Normal |
| ||||||
| AKAP9 | Deleterious | 88|12 | simple_ | No | Single base exchange | Normal |
| ||||||
| AKAP9 | Deleterious | 88|12 | simple_ | No | Single base exchange | Normal |
| ||||||
| AKAP9 | Deleterious | 88|12 | simple_ | No | Single base exchange | Normal |
| ||||||
| AKAP9 | Deleterious | 89|11 | simple_ | No | Single base exchange | Normal |
| ||||||
| AKAP9 | Deleterious | 91|9 | simple_ | No | Single base exchange | Normal |
| ||||||
ENST00000356239(MANE Select) | AKAP9 | Deleterious | 91|9 | simple_ | No | Single base exchange | Normal |
| |||||
| AKAP9 | Deleterious | 93|7 | simple_ | No | Single base exchange | Normal |
| ||||||
| AKAP9 | Deleterious | 93|7 | simple_ | No | Single base exchange | Normal |
| ||||||
| AKAP9 | Deleterious | 94|6 | simple_ | No | Single base exchange | Normal |
| ||||||
| AKAP9 | Deleterious | 94|6 | simple_ | No | Single base exchange | Normal |
| ||||||
| CYP51A1 | Deleterious | 190|10 | without_ | No | Single base exchange | N/A |
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr7:92102697A>T (GRCh38) | |||||||||||||
| Gene symbol | AKAP9 | |||||||||||||
| Gene constraints | LOEUF: 0.66, LOF (oe): 0.59, misssense (oe): 0.91, synonymous (oe): 0.94 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000680534.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.11240A>T g.161858A>T | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 7 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | TGGGTTCCAGGAATGTGAAGATGCCACCTTGGCCCTGCTTG | |||||||||||||
| Altered gDNA sequence snippet | TGGGTTCCAGGAATGTGAAGTTGCCACCTTGGCCCTGCTTG | |||||||||||||
| Original cDNA sequence snippet | TGGGTTCCAGGAATGTGAAGATGCCACCTTGGCCCTGCTTG | |||||||||||||
| Altered cDNA sequence snippet | TGGGTTCCAGGAATGTGAAGTTGCCACCTTGGCCCTGCTTG | |||||||||||||
| Wildtype AA sequence | MEDEERQKKL EAGKAKLAQF RQRKAQSDGQ SPSKKQKKKR KTSSSKHDVS AHHDLNIDQS QCNEMYINSS QRVESTVIPE STIMRTLHSG EITSHEQGFS VELESEISTT ADDCSSEVNG CSFVMRTGKP TNLLREEEFG VDDSYSEQGA QDSPTHLEMM ESELAGKQHE IEELNRELEE MRVTYGTEGL QQLQEFEAAI KQRDGIITQL TANLQQARRE KDETMREFLE LTEQSQKLQI QFQQLQASET LRNSTHSSTA ADLLQAKQQI LTHQQQLEEQ DHLLEDYQKK KEDFTMQISF LQEKIKVYEM EQDKKVENSN KEEIQEKETI IEELNTKIIE EEKKTLELKD KLTTADKLLG ELQEQIVQKN QEIKNMKLEL TNSKQKERQS SEEIKQLMGT VEELQKRNHK DSQFETDIVQ RMEQETQRKL EQLRAELDEM YGQQIVQMKQ ELIRQHMAQM EEMKTRHKGE MENALRSYSN ITVNEDQIKL MNVAINELNI KLQDTNSQKE KLKEELGLIL EEKCALQRQL EDLVEELSFS REQIQRARQT IAEQESKLNE AHKSLSTVED LKAEIVSASE SRKELELKHE AEVTNYKIKL EMLEKEKNAV LDRMAESQEA ELERLRTQLL FSHEEELSKL KEDLEIEHRI NIEKLKDNLG IHYKQQIDGL QNEMSQKIET MQFEKDNLIT KQNQLILEIS KLKDLQQSLV NSKSEEMTLQ INELQKEIEI LRQEEKEKGT LEQEVQELQL KTELLEKQMK EKENDLQEKF AQLEAENSIL KDEKKTLEDM LKIHTPVSQE ERLIFLDSIK SKSKDSVWEK EIEILIEENE DLKQQCIQLN EEIEKQRNTF SFAEKNFEVN YQELQEEYAC LLKVKDDLED SKNKQELEYK SKLKALNEEL HLQRINPTTV KMKSSVFDED KTFVAETLEM GEVVEKDTTE LMEKLEVTKR EKLELSQRLS DLSEQLKQKH GEISFLNEEV KSLKQEKEQV SLRCRELEII INHNRAENVQ SCDTQVSSLL DGVVTMTSRG AEGSVSKVNK SFGEESKIMV EDKVSFENMT VGEESKQEQL ILDHLPSVTK ESSLRATQPS ENDKLQKELN VLKSEQNDLR LQMEAQRICL SLVYSTHVDQ VREYMENEKD KALCSLKEEL IFAQEEKIKE LQKIHQLELQ TMKTQETGDE GKPLHLLIGK LQKAVSEECS YFLQTLCSVL GEYYTPALKC EVNAEDKENS GDYISENEDP ELQDYRYEVQ DFQENMHTLL NKVTEEYNKL LVLQTRLSKI WGQQTDGMKL EFGEENLPKE ETEFLSIHSQ MTNLEDIDVN HKSKLSSLQD LEKTKLEEQV QELESLISSL QQQLKETEQN YEAEIHCLQK RLQAVSESTV PPSLPVDSVV ITESDAQRTM YPGSCVKKNI DGTIEFSGEF GVKEETNIVK LLEKQYQEQL EEEVAKVIVS MSIAFAQQTE LSRISGGKEN TASSKQAHAV CQQEQHYFNE MKLSQDQIGF QTFETVDVKF KEEFKPLSKE LGEHGKEILL SNSDPHDIPE SKDCVLTISE EMFSKDKTFI VRQSIHDEIS VSSMDASRQL MLNEEQLEDM RQELVRQYQE HQQATELLRQ AHMRQMERQR EDQEQLQEEI KRLNRQLAQR SSIDNENLVS ERERVLLEEL EALKQLSLAG REKLCCELRN SSTQTQNGNE NQGEVEEQTF KEKELDRKPE DVPPEILSNE RYALQKANNR LLKILLEVVK TTAAVEETIG RHVLGILDRS SKSQSSASLI WRSEAEASVK SCVHEEHTRV TDESIPSYSG SDMPRNDINM WSKVTEEGTE LSQRLVRSGF AGTEIDPENE ELMLNISSRL QAAVEKLLEA ISETSSQLEH AKVTQTELMR ESFRQKQEAT ESLKCQEELR ERLHEESRAR EQLAVELSKA EGVIDGYADE KTLFERQIQE KTDIIDRLEQ ELLCASNRLQ ELEAEQQQIQ EERELLSRQK EAMKAEAGPV EQRLVDAAVD AAPGAELLQE TEKLMKEKLE VQCQAEKVRD DLQKQVKALE IDVEEQVSRF IELEQEKNTE LMDLRQQNQA LEKQLEKMRK FLDEQAIDRE HERDVFQQEI QKLEQQLKVV PRFQPISEHQ TREVEQLANH LKEKTDKCSE LLLSKEQLQR DIQERNEEIE KLEFRVRELE QALLVSADTF QKVEDRKHFG AVEAKPELSL EVQLQAERDA IDRKEKEITN LEEQLEQFRE ELENKNEEVQ QLHMQLEIQK KESTTRLQEL EQENKLFKDD MEKLGLAIKE SDAMSTQDQH VLFGKFAQII QEKEVEIDQL NEQVTKLQQQ LKITTDNKVI EEKNELIRDL ETQIECLMSD QECVKRNREE EIEQLNEVIE KLQQELANIG QKTSMNAHSL SEEADSLKHQ LDVVIAEKLA LEQQVETANE EMTFMKNVLK ETNFKMNQLT QELFSLKRER ESVEKIQSIP ENSVNVAIDH LSKDKPELEV VLTEDALKSL ENQTYFKSFE ENGKGSIINL ETRLLQLEST VSAKDLELTQ CYKQIKDMQE QGQFETEMLQ KKIVNLQKIV EEKVAAALVS QIQLEAVQEY AKFCQDNQTI SSEPERTNIQ NLNQLREDEL GSDISALTLR ISELESQVVE MHTSLILEKE QVEIAEKNVL EKEKKLLELQ KLLEGNEKKQ REKEKKRSPQ DVEVLKTTTE LFHSNEESGF FNELEALRAE SVATKAELAS YKEKAEKLQE ELLVKETNMT SLQKDLSQVR DHLAEAKEKL SILEKEDETE VQESKKACMF EPLPIKLSKS IASQTDGTLK ISSSNQTPQI LVKNAGIQIN LQSECSSEEV TEIISQFTEK IEKMQELHAA EILDMESRHI SETETLKREH YVAVQLLKEE CGTLKAVIQC LRSKEGSSIP ELAHSDAYQT REICSSDSGS DWGQGIYLTH SQGFDIASEG RGEESESATD SFPKKIKGLL RAVHNEGMQV LSLTESPYSD GEDHSIQQVS EPWLEERKAY INTISSLKDL ITKMQLQREA EVYDSSQSHE SFSDWRGELL LALQQVFLEE RSVLLAAFRT ELTALGTTDA VGLLNCLEQR IQEQGVEYQA AMECLQKADR RSLLSEIQAL HAQMNGRKIT LKREQESEKP SQELLEYNIQ QKQSQMLEMQ VELSSMKDRA TELQEQLSSE KMVVAELKSE LAQTKLELET TLKAQHKHLK ELEAFRLEVK DKTDEVHLLN DTLASEQKKS RELQWALEKE KAKLGRSEER DKEELEDLKF SLESQKQRNL QLNLLLEQQK QLLNESQQKI ESQRMLYDAQ LSEEQGRNLE LQVLLESEKV RIREMSSTLD RERELHAQLQ SSDGTGQSRP PLPSEDLLKE LQKQLEEKHS RIVELLNETE KYKLDSLQTR QQMEKDRQVH RKTLQTEQEA NTEGQKKMHE LQSKVEDLQR QLEEKRQQVY KLDLEGQRLQ GIMQEFQKQE LEREEKRESR RILYQNLNEP TTWSLTSDRT RNWVLQQKIE GETKESNYAK LIEMNGGGTG CNHELEMIRQ KLQCVASKLQ VLPQKASERL QFETADDEDF IWVQENIDEI ILQLQKLTGQ QGEEPSLVSP STSCGSLTER LLRQNAELTG HISQLTEEKN DLRNMVMKLE EQIRWYRQTG AGRDNSSRFS LNGGANIEAI IASEKEVWNR EKLTLQKSLK RAEAEVYKLK AELRNDSLLQ TLSPDSEHVT LKRIYGKYLR AESFRKALIY QKKYLLLLLG GFQECEDATL ALLARMGGQP AFTDLEVITN RPKGFTRFRS AVRVSIAISR MKFLVRRWHR VTGSVSININ RDGFGLNQGA EKTDSFYHSS GGLELYGEPR HTTYRSRSDL DYIRSPLPFQ NRYPGTPADF NPGSLACSQL QNYDPDRALT DYITRLEALQ RRLGTIQSGS TTQFHAGMRR * | |||||||||||||
| Mutated AA sequence | MEDEERQKKL EAGKAKLAQF RQRKAQSDGQ SPSKKQKKKR KTSSSKHDVS AHHDLNIDQS QCNEMYINSS QRVESTVIPE STIMRTLHSG EITSHEQGFS VELESEISTT ADDCSSEVNG CSFVMRTGKP TNLLREEEFG VDDSYSEQGA QDSPTHLEMM ESELAGKQHE IEELNRELEE MRVTYGTEGL QQLQEFEAAI KQRDGIITQL TANLQQARRE KDETMREFLE LTEQSQKLQI QFQQLQASET LRNSTHSSTA ADLLQAKQQI LTHQQQLEEQ DHLLEDYQKK KEDFTMQISF LQEKIKVYEM EQDKKVENSN KEEIQEKETI IEELNTKIIE EEKKTLELKD KLTTADKLLG ELQEQIVQKN QEIKNMKLEL TNSKQKERQS SEEIKQLMGT VEELQKRNHK DSQFETDIVQ RMEQETQRKL EQLRAELDEM YGQQIVQMKQ ELIRQHMAQM EEMKTRHKGE MENALRSYSN ITVNEDQIKL MNVAINELNI KLQDTNSQKE KLKEELGLIL EEKCALQRQL EDLVEELSFS REQIQRARQT IAEQESKLNE AHKSLSTVED LKAEIVSASE SRKELELKHE AEVTNYKIKL EMLEKEKNAV LDRMAESQEA ELERLRTQLL FSHEEELSKL KEDLEIEHRI NIEKLKDNLG IHYKQQIDGL QNEMSQKIET MQFEKDNLIT KQNQLILEIS KLKDLQQSLV NSKSEEMTLQ INELQKEIEI LRQEEKEKGT LEQEVQELQL KTELLEKQMK EKENDLQEKF AQLEAENSIL KDEKKTLEDM LKIHTPVSQE ERLIFLDSIK SKSKDSVWEK EIEILIEENE DLKQQCIQLN EEIEKQRNTF SFAEKNFEVN YQELQEEYAC LLKVKDDLED SKNKQELEYK SKLKALNEEL HLQRINPTTV KMKSSVFDED KTFVAETLEM GEVVEKDTTE LMEKLEVTKR EKLELSQRLS DLSEQLKQKH GEISFLNEEV KSLKQEKEQV SLRCRELEII INHNRAENVQ SCDTQVSSLL DGVVTMTSRG AEGSVSKVNK SFGEESKIMV EDKVSFENMT VGEESKQEQL ILDHLPSVTK ESSLRATQPS ENDKLQKELN VLKSEQNDLR LQMEAQRICL SLVYSTHVDQ VREYMENEKD KALCSLKEEL IFAQEEKIKE LQKIHQLELQ TMKTQETGDE GKPLHLLIGK LQKAVSEECS YFLQTLCSVL GEYYTPALKC EVNAEDKENS GDYISENEDP ELQDYRYEVQ DFQENMHTLL NKVTEEYNKL LVLQTRLSKI WGQQTDGMKL EFGEENLPKE ETEFLSIHSQ MTNLEDIDVN HKSKLSSLQD LEKTKLEEQV QELESLISSL QQQLKETEQN YEAEIHCLQK RLQAVSESTV PPSLPVDSVV ITESDAQRTM YPGSCVKKNI DGTIEFSGEF GVKEETNIVK LLEKQYQEQL EEEVAKVIVS MSIAFAQQTE LSRISGGKEN TASSKQAHAV CQQEQHYFNE MKLSQDQIGF QTFETVDVKF KEEFKPLSKE LGEHGKEILL SNSDPHDIPE SKDCVLTISE EMFSKDKTFI VRQSIHDEIS VSSMDASRQL MLNEEQLEDM RQELVRQYQE HQQATELLRQ AHMRQMERQR EDQEQLQEEI KRLNRQLAQR SSIDNENLVS ERERVLLEEL EALKQLSLAG REKLCCELRN SSTQTQNGNE NQGEVEEQTF KEKELDRKPE DVPPEILSNE RYALQKANNR LLKILLEVVK TTAAVEETIG RHVLGILDRS SKSQSSASLI WRSEAEASVK SCVHEEHTRV TDESIPSYSG SDMPRNDINM WSKVTEEGTE LSQRLVRSGF AGTEIDPENE ELMLNISSRL QAAVEKLLEA ISETSSQLEH AKVTQTELMR ESFRQKQEAT ESLKCQEELR ERLHEESRAR EQLAVELSKA EGVIDGYADE KTLFERQIQE KTDIIDRLEQ ELLCASNRLQ ELEAEQQQIQ EERELLSRQK EAMKAEAGPV EQRLVDAAVD AAPGAELLQE TEKLMKEKLE VQCQAEKVRD DLQKQVKALE IDVEEQVSRF IELEQEKNTE LMDLRQQNQA LEKQLEKMRK FLDEQAIDRE HERDVFQQEI QKLEQQLKVV PRFQPISEHQ TREVEQLANH LKEKTDKCSE LLLSKEQLQR DIQERNEEIE KLEFRVRELE QALLVSADTF QKVEDRKHFG AVEAKPELSL EVQLQAERDA IDRKEKEITN LEEQLEQFRE ELENKNEEVQ QLHMQLEIQK KESTTRLQEL EQENKLFKDD MEKLGLAIKE SDAMSTQDQH VLFGKFAQII QEKEVEIDQL NEQVTKLQQQ LKITTDNKVI EEKNELIRDL ETQIECLMSD QECVKRNREE EIEQLNEVIE KLQQELANIG QKTSMNAHSL SEEADSLKHQ LDVVIAEKLA LEQQVETANE EMTFMKNVLK ETNFKMNQLT QELFSLKRER ESVEKIQSIP ENSVNVAIDH LSKDKPELEV VLTEDALKSL ENQTYFKSFE ENGKGSIINL ETRLLQLEST VSAKDLELTQ CYKQIKDMQE QGQFETEMLQ KKIVNLQKIV EEKVAAALVS QIQLEAVQEY AKFCQDNQTI SSEPERTNIQ NLNQLREDEL GSDISALTLR ISELESQVVE MHTSLILEKE QVEIAEKNVL EKEKKLLELQ KLLEGNEKKQ REKEKKRSPQ DVEVLKTTTE LFHSNEESGF FNELEALRAE SVATKAELAS YKEKAEKLQE ELLVKETNMT SLQKDLSQVR DHLAEAKEKL SILEKEDETE VQESKKACMF EPLPIKLSKS IASQTDGTLK ISSSNQTPQI LVKNAGIQIN LQSECSSEEV TEIISQFTEK IEKMQELHAA EILDMESRHI SETETLKREH YVAVQLLKEE CGTLKAVIQC LRSKEGSSIP ELAHSDAYQT REICSSDSGS DWGQGIYLTH SQGFDIASEG RGEESESATD SFPKKIKGLL RAVHNEGMQV LSLTESPYSD GEDHSIQQVS EPWLEERKAY INTISSLKDL ITKMQLQREA EVYDSSQSHE SFSDWRGELL LALQQVFLEE RSVLLAAFRT ELTALGTTDA VGLLNCLEQR IQEQGVEYQA AMECLQKADR RSLLSEIQAL HAQMNGRKIT LKREQESEKP SQELLEYNIQ QKQSQMLEMQ VELSSMKDRA TELQEQLSSE KMVVAELKSE LAQTKLELET TLKAQHKHLK ELEAFRLEVK DKTDEVHLLN DTLASEQKKS RELQWALEKE KAKLGRSEER DKEELEDLKF SLESQKQRNL QLNLLLEQQK QLLNESQQKI ESQRMLYDAQ LSEEQGRNLE LQVLLESEKV RIREMSSTLD RERELHAQLQ SSDGTGQSRP PLPSEDLLKE LQKQLEEKHS RIVELLNETE KYKLDSLQTR QQMEKDRQVH RKTLQTEQEA NTEGQKKMHE LQSKVEDLQR QLEEKRQQVY KLDLEGQRLQ GIMQEFQKQE LEREEKRESR RILYQNLNEP TTWSLTSDRT RNWVLQQKIE GETKESNYAK LIEMNGGGTG CNHELEMIRQ KLQCVASKLQ VLPQKASERL QFETADDEDF IWVQENIDEI ILQLQKLTGQ QGEEPSLVSP STSCGSLTER LLRQNAELTG HISQLTEEKN DLRNMVMKLE EQIRWYRQTG AGRDNSSRFS LNGGANIEAI IASEKEVWNR EKLTLQKSLK RAEAEVYKLK AELRNDSLLQ TLSPDSEHVT LKRIYGKYLR AESFRKALIY QKKYLLLLLG GFQECEVATL ALLARMGGQP AFTDLEVITN RPKGFTRFRS AVRVSIAISR MKFLVRRWHR VTGSVSININ RDGFGLNQGA EKTDSFYHSS GGLELYGEPR HTTYRSRSDL DYIRSPLPFQ NRYPGTPADF NPGSLACSQL QNYDPDRALT DYITRLEALQ RRLGTIQSGS TTQFHAGMRR * | |||||||||||||
| Position of stopcodon in wt / mu CDS | 11763 / 11763 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 3921 / 3921 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 12023 / 12023 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 261 / 261 | |||||||||||||
| Last intron/exon boundary | 11985 | |||||||||||||
| Theoretical NMD boundary in CDS | 11674 | |||||||||||||
| Length of CDS | 11763 | |||||||||||||
| Coding sequence (CDS) position | 11240 | |||||||||||||
| cDNA position | 11500 | |||||||||||||
| gDNA position | 161858 | |||||||||||||
| Chromosomal position | 92102697 | |||||||||||||
| 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 | Chr7:92102697A>T (GRCh38) | |||||||||||||
| Gene symbol | AKAP9 | |||||||||||||
| Gene constraints | LOEUF: 0.66, LOF (oe): 0.60, misssense (oe): 0.91, synonymous (oe): 0.94 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000680181.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.11108A>T g.161858A>T | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 7 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | TGGGTTCCAGGAATGTGAAGATGCCACCTTGGCCCTGCTTG | |||||||||||||
| Altered gDNA sequence snippet | TGGGTTCCAGGAATGTGAAGTTGCCACCTTGGCCCTGCTTG | |||||||||||||
| Original cDNA sequence snippet | TGGGTTCCAGGAATGTGAAGATGCCACCTTGGCCCTGCTTG | |||||||||||||
| Altered cDNA sequence snippet | TGGGTTCCAGGAATGTGAAGTTGCCACCTTGGCCCTGCTTG | |||||||||||||
| Wildtype AA sequence | MEDEERQKKL EAGKAKLAQF RQRKAQSDGQ SPSKKQKKKR KTSSSKHDVS AHHDLNIDQS QCNEMYINSS QRVESTVIPE STIMRTLHSG EITSHEQGFS VELESEISTT ADDCSSEVNG CSFVMRTGKP TNLLREEEFG VDDSYSEQGA QDSPTHLEMM ESELAGKQHE IEELNRELEE MRVTYGTEGL QQLQEFEAAI KQRDGIITQL TANLQQARRE KDETMREFLE LTEQSQKLQI QFQQLQASET LRNSTHSSTA ADLLQAKQQI LTHQQQLEEQ DHLLEDYQKK KEDFTMQISF LQEKIKVYEM EQDKKVENSN KEEIQEKETI IEELNTKIIE EEKKTLELKD KLTTADKLLG ELQEQIVQKN QEIKNMKLEL TNSKQKERQS SEEIKQLMGT VEELQKRNHK DSQFETDIVQ RMEQETQRKL EQLRAELDEM YGQQIVQMKQ ELIRQHMAQM EEMKTRHKGE MENALRSYSN ITVNEDQIKL MNVAINELNI KLQDTNSQKE KLKEELGLIL EEKCALQRQL EDLVEELSFS REQIQRARQT IAEQESKLNE AHKSLSTVED LKAEIVSASE SRKELELKHE AEVTNYKIKL EMLEKEKNAV LDRMAESQEA ELERLRTQLL FSHEEELSKL KEDLEIEHRI NIEKLKDNLG IHYKQQIDGL QNEMSQKIET MQFEKDNLIT KQNQLILEIS KLKDLQQSLV NSKSEEMTLQ INELQKEIEI LRQEEKEKGT LEQEVQELQL KTELLEKQMK EKENDLQEKF AQLEAENSIL KDEKKTLEDM LKIHTPVSQE ERLIFLDSIK SKSKDSVWEK EIEILIEENE DLKQQCIQLN EEIEKQRNTF SFAEKNFEVN YQELQEEYAC LLKVKDDLED SKNKQELEYK SKLKALNEEL HLQRINPTTV KMKSSVFDED KTFVAETLEM GEVVEKDTTE LMEKLEVTKR EKLELSQRLS DLSEQLKQKH GEISFLNEEV KSLKQEKEQV SLRCRELEII INHNRAENVQ SCDTQVSSLL DGVVTMTSRG AEGSVSKVNK SFGEESKIMV EDKVSFENMT VGEESKQEQL ILDHLPSVTK ESSLRATQPS ENDKLQKELN VLKSEQNDLR LQMEAQRICL SLVYSTHVDQ VREYMENEKD KALCSLKEEL IFAQEEKIKE LQKIHQLELQ TMKTQETGDE GKPLHLLIGK LQKAVSEECS YFLQTLCSVL GEYYTPALKC EVNAEDKENS GDYISENEDP ELQDYRYEVQ DFQENMHTLL NKVTEEYNKL LVLQTRLSKI WGQQTDGMKL EFGEENLPKE ETEFLSIHSQ MTNLEDIDVN HKSKLSSLQD LEKTKLEEQV QELESLISSL QQQLKETEQN YEAEIHCLQK RLQAVSESTV PPSLPVDSVV ITESDAQRTM YPGSCVKKNI DGTIEVIVSM SIAFAQQTEL SRISGGKENT ASSKQAHAVC QQEQHYFNEM KLSQDQIGFQ TFETVDVKFK EEFKPLSKEL GEHGKEILLS NSDPHDIPES KDCVLTISEE MFSKDKTFIV RQSIHDEISV SSMDASRQLM LNEEQLEDMR QELVRQYQEH QQATELLRQA HMRQMERQRE DQEQLQEEIK RLNRQLAQRS SIDNENLVSE RERVLLEELE ALKQLSLAGR EKLCCELRNS STQTQNGNEN QGEVEEQTFK EKELDRKPED VPPEILSNER YALQKANNRL LKILLEVVKT TAAVEETIGR HVLGILDRSS KSQSSASLIW RSEAEASVKS CVHEEHTRVT DESIPSYSGS DMPRNDINMW SKVTEEGTEL SQRLVRSGFA GTEIDPENEE LMLNISSRLQ AAVEKLLEAI SETSSQLEHA KVTQTELMRE SFRQKQEATE SLKCQEELRE RLHEESRARE QLAVELSKAE GVIDGYADEK TLFERQIQEK TDIIDRLEQE LLCASNRLQE LEAEQQQIQE ERELLSRQKE AMKAEAGPVE QQLLQETEKL MKEKLEVQCQ AEKVRDDLQK QVKALEIDVE EQVSRFIELE QEKNTELMDL RQQNQALEKQ LEKMRKFLDE QAIDREHERD VFQQEIQKLE QQLKVVPRFQ PISEHQTREV EQLANHLKEK TDKCSELLLS KEQLQRDIQE RNEEIEKLEF RVRELEQALL VSADTFQKVE DRKHFGAVEA KPELSLEVQL QAERDAIDRK EKEITNLEEQ LEQFREELEN KNEEVQQLHM QLEIQKKEST TRLQELEQEN KLFKDDMEKL GLAIKESDAM STQDQHVLFG KFAQIIQEKE VEIDQLNEQV TKLQQQLKIT TDNKVIEEKN ELIRDLETQI ECLMSDQECV KRNREEEIEQ LNEVIEKLQQ ELANIGQKTS MNAHSLSEEA DSLKHQLDVV IAEKLALEQQ VETANEEMTF MKNVLKETNF KMNQLTQELF SLKRERESVE KIQSIPENSV NVAIDHLSKD KPELEVVLTE DALKSLENQT YFKSFEENGK GSIINLETRL LQLESTVSAK DLELTQCYKQ IKDMQEQGQF ETEMLQKKIV NLQKIVEEKV AAALVSQIQL EAVQEYAKFC QDNQTISSEP ERTNIQNLNQ LREDELGSDI SALTLRISEL ESQVVEMHTS LILEKEQVEI AEKNVLEKEK KLLELQKLLE GNEKKQREKE KKRSPQDVEV LKTTTELFHS NEESGFFNEL EALRAESVAT KAELASYKEK AEKLQEELLV KETNMTSLQK DLSQVRDHLA EAKEKLSILE KEDETEVQES KKACMFEPLP IKLSKSIASQ TDGTLKISSS NQTPQILVKN AGIQINLQSE CSSEEVTEII SQFTEKIEKM QELHAAEILD MESRHISETE TLKREHYVAV QLLKEECGTL KAVIQCLRSK EGSSIPELAH SDAYQTREIC SSDSGSDWGQ GIYLTHSQGF DIASEGRGEE SESATDSFPK KIKGLLRAVH NEGMQVLSLT ESPYSDGEDH SIQQVSEPWL EERKAYINTI SSLKDLITKM QLQREAEVYD SSQSHESFSD WRGELLLALQ QVFLEERSVL LAAFRTELTA LGTTDAVGLL NCLEQRIQEQ GVEYQAAMEC LQKADRRSLL SEIQALHAQM NGRKITLKRE QESEKPSQEL LEYNIQQKQS QMLEMQVELS SMKDRATELQ EQLSSEKMVV AELKSELAQT KLELETTLKA QHKHLKELEA FRLEVKDKTD EVHLLNDTLA SEQKKSRELQ WALEKEKAKL GRSEERDKEE LEDLKFSLES QKQRNLQLNL LLEQQKQLLN ESQQKIESQR MLYDAQLSEE QGRNLELQVL LESEKVRIRE MSSTLDRERE LHAQLQSSDG TGQSRPPLPS EDLLKELQKQ LEEKHSRIVE LLNETEKYKL DSLQTRQQME KDRQVHRKTL QTEQEANTEG QKKMHELQSK VEDLQRQLEE KRQQVYKLDL EGQRLQGIMQ EFQKQELERE EKRESRRILY QNLNEPTTWS LTSDRTRNWV LQQKIEGETK ESNYAKLIEM NGGGTGCNHE LEMIRQKLQC VASKLQVLPQ KASERLQFET ADDEDFIWVQ ENIDEIILQL QKLTGQQGEE PSLVSPSTSC GSLTERLLRQ NAELTGHISQ LTEEKNDLRN MVMKLEEQIR WYRQTGAGRD NSSRFSLNGG ANIEAIIASE KEVWNREKLT LQKSLKRAEA EVYKLKAELR NDSLLQTLSP DSEHVTLKRI YGKYLRAESF RKALIYQKKY LLLLLGGFQE CEDATLALLA RMGGQPAFTD LEVITNRPKG FTRFRSAVRV SIAISRMKFL VRRWHRVTGS VSININRDGF GLNQGAEKTD SFYHSSGGLE LYGEPRHTTY RSRSDLDYIR SPLPFQNRYP GTPADFNPGS LACSQLQNYD PDRALTDYIT RLEALQRRLG TIQSGSTTQF HAGMRR* | |||||||||||||
| Mutated AA sequence | MEDEERQKKL EAGKAKLAQF RQRKAQSDGQ SPSKKQKKKR KTSSSKHDVS AHHDLNIDQS QCNEMYINSS QRVESTVIPE STIMRTLHSG EITSHEQGFS VELESEISTT ADDCSSEVNG CSFVMRTGKP TNLLREEEFG VDDSYSEQGA QDSPTHLEMM ESELAGKQHE IEELNRELEE MRVTYGTEGL QQLQEFEAAI KQRDGIITQL TANLQQARRE KDETMREFLE LTEQSQKLQI QFQQLQASET LRNSTHSSTA ADLLQAKQQI LTHQQQLEEQ DHLLEDYQKK KEDFTMQISF LQEKIKVYEM EQDKKVENSN KEEIQEKETI IEELNTKIIE EEKKTLELKD KLTTADKLLG ELQEQIVQKN QEIKNMKLEL TNSKQKERQS SEEIKQLMGT VEELQKRNHK DSQFETDIVQ RMEQETQRKL EQLRAELDEM YGQQIVQMKQ ELIRQHMAQM EEMKTRHKGE MENALRSYSN ITVNEDQIKL MNVAINELNI KLQDTNSQKE KLKEELGLIL EEKCALQRQL EDLVEELSFS REQIQRARQT IAEQESKLNE AHKSLSTVED LKAEIVSASE SRKELELKHE AEVTNYKIKL EMLEKEKNAV LDRMAESQEA ELERLRTQLL FSHEEELSKL KEDLEIEHRI NIEKLKDNLG IHYKQQIDGL QNEMSQKIET MQFEKDNLIT KQNQLILEIS KLKDLQQSLV NSKSEEMTLQ INELQKEIEI LRQEEKEKGT LEQEVQELQL KTELLEKQMK EKENDLQEKF AQLEAENSIL KDEKKTLEDM LKIHTPVSQE ERLIFLDSIK SKSKDSVWEK EIEILIEENE DLKQQCIQLN EEIEKQRNTF SFAEKNFEVN YQELQEEYAC LLKVKDDLED SKNKQELEYK SKLKALNEEL HLQRINPTTV KMKSSVFDED KTFVAETLEM GEVVEKDTTE LMEKLEVTKR EKLELSQRLS DLSEQLKQKH GEISFLNEEV KSLKQEKEQV SLRCRELEII INHNRAENVQ SCDTQVSSLL DGVVTMTSRG AEGSVSKVNK SFGEESKIMV EDKVSFENMT VGEESKQEQL ILDHLPSVTK ESSLRATQPS ENDKLQKELN VLKSEQNDLR LQMEAQRICL SLVYSTHVDQ VREYMENEKD KALCSLKEEL IFAQEEKIKE LQKIHQLELQ TMKTQETGDE GKPLHLLIGK LQKAVSEECS YFLQTLCSVL GEYYTPALKC EVNAEDKENS GDYISENEDP ELQDYRYEVQ DFQENMHTLL NKVTEEYNKL LVLQTRLSKI WGQQTDGMKL EFGEENLPKE ETEFLSIHSQ MTNLEDIDVN HKSKLSSLQD LEKTKLEEQV QELESLISSL QQQLKETEQN YEAEIHCLQK RLQAVSESTV PPSLPVDSVV ITESDAQRTM YPGSCVKKNI DGTIEVIVSM SIAFAQQTEL SRISGGKENT ASSKQAHAVC QQEQHYFNEM KLSQDQIGFQ TFETVDVKFK EEFKPLSKEL GEHGKEILLS NSDPHDIPES KDCVLTISEE MFSKDKTFIV RQSIHDEISV SSMDASRQLM LNEEQLEDMR QELVRQYQEH QQATELLRQA HMRQMERQRE DQEQLQEEIK RLNRQLAQRS SIDNENLVSE RERVLLEELE ALKQLSLAGR EKLCCELRNS STQTQNGNEN QGEVEEQTFK EKELDRKPED VPPEILSNER YALQKANNRL LKILLEVVKT TAAVEETIGR HVLGILDRSS KSQSSASLIW RSEAEASVKS CVHEEHTRVT DESIPSYSGS DMPRNDINMW SKVTEEGTEL SQRLVRSGFA GTEIDPENEE LMLNISSRLQ AAVEKLLEAI SETSSQLEHA KVTQTELMRE SFRQKQEATE SLKCQEELRE RLHEESRARE QLAVELSKAE GVIDGYADEK TLFERQIQEK TDIIDRLEQE LLCASNRLQE LEAEQQQIQE ERELLSRQKE AMKAEAGPVE QQLLQETEKL MKEKLEVQCQ AEKVRDDLQK QVKALEIDVE EQVSRFIELE QEKNTELMDL RQQNQALEKQ LEKMRKFLDE QAIDREHERD VFQQEIQKLE QQLKVVPRFQ PISEHQTREV EQLANHLKEK TDKCSELLLS KEQLQRDIQE RNEEIEKLEF RVRELEQALL VSADTFQKVE DRKHFGAVEA KPELSLEVQL QAERDAIDRK EKEITNLEEQ LEQFREELEN KNEEVQQLHM QLEIQKKEST TRLQELEQEN KLFKDDMEKL GLAIKESDAM STQDQHVLFG KFAQIIQEKE VEIDQLNEQV TKLQQQLKIT TDNKVIEEKN ELIRDLETQI ECLMSDQECV KRNREEEIEQ LNEVIEKLQQ ELANIGQKTS MNAHSLSEEA DSLKHQLDVV IAEKLALEQQ VETANEEMTF MKNVLKETNF KMNQLTQELF SLKRERESVE KIQSIPENSV NVAIDHLSKD KPELEVVLTE DALKSLENQT YFKSFEENGK GSIINLETRL LQLESTVSAK DLELTQCYKQ IKDMQEQGQF ETEMLQKKIV NLQKIVEEKV AAALVSQIQL EAVQEYAKFC QDNQTISSEP ERTNIQNLNQ LREDELGSDI SALTLRISEL ESQVVEMHTS LILEKEQVEI AEKNVLEKEK KLLELQKLLE GNEKKQREKE KKRSPQDVEV LKTTTELFHS NEESGFFNEL EALRAESVAT KAELASYKEK AEKLQEELLV KETNMTSLQK DLSQVRDHLA EAKEKLSILE KEDETEVQES KKACMFEPLP IKLSKSIASQ TDGTLKISSS NQTPQILVKN AGIQINLQSE CSSEEVTEII SQFTEKIEKM QELHAAEILD MESRHISETE TLKREHYVAV QLLKEECGTL KAVIQCLRSK EGSSIPELAH SDAYQTREIC SSDSGSDWGQ GIYLTHSQGF DIASEGRGEE SESATDSFPK KIKGLLRAVH NEGMQVLSLT ESPYSDGEDH SIQQVSEPWL EERKAYINTI SSLKDLITKM QLQREAEVYD SSQSHESFSD WRGELLLALQ QVFLEERSVL LAAFRTELTA LGTTDAVGLL NCLEQRIQEQ GVEYQAAMEC LQKADRRSLL SEIQALHAQM NGRKITLKRE QESEKPSQEL LEYNIQQKQS QMLEMQVELS SMKDRATELQ EQLSSEKMVV AELKSELAQT KLELETTLKA QHKHLKELEA FRLEVKDKTD EVHLLNDTLA SEQKKSRELQ WALEKEKAKL GRSEERDKEE LEDLKFSLES QKQRNLQLNL LLEQQKQLLN ESQQKIESQR MLYDAQLSEE QGRNLELQVL LESEKVRIRE MSSTLDRERE LHAQLQSSDG TGQSRPPLPS EDLLKELQKQ LEEKHSRIVE LLNETEKYKL DSLQTRQQME KDRQVHRKTL QTEQEANTEG QKKMHELQSK VEDLQRQLEE KRQQVYKLDL EGQRLQGIMQ EFQKQELERE EKRESRRILY QNLNEPTTWS LTSDRTRNWV LQQKIEGETK ESNYAKLIEM NGGGTGCNHE LEMIRQKLQC VASKLQVLPQ KASERLQFET ADDEDFIWVQ ENIDEIILQL QKLTGQQGEE PSLVSPSTSC GSLTERLLRQ NAELTGHISQ LTEEKNDLRN MVMKLEEQIR WYRQTGAGRD NSSRFSLNGG ANIEAIIASE KEVWNREKLT LQKSLKRAEA EVYKLKAELR NDSLLQTLSP DSEHVTLKRI YGKYLRAESF RKALIYQKKY LLLLLGGFQE CEVATLALLA RMGGQPAFTD LEVITNRPKG FTRFRSAVRV SIAISRMKFL VRRWHRVTGS VSININRDGF GLNQGAEKTD SFYHSSGGLE LYGEPRHTTY RSRSDLDYIR SPLPFQNRYP GTPADFNPGS LACSQLQNYD PDRALTDYIT RLEALQRRLG TIQSGSTTQF HAGMRR* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 11631 / 11631 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 3877 / 3877 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 11869 / 11869 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 239 / 239 | |||||||||||||
| Last intron/exon boundary | 11831 | |||||||||||||
| Theoretical NMD boundary in CDS | 11542 | |||||||||||||
| Length of CDS | 11631 | |||||||||||||
| Coding sequence (CDS) position | 11108 | |||||||||||||
| cDNA position | 11346 | |||||||||||||
| gDNA position | 161858 | |||||||||||||
| Chromosomal position | 92102697 | |||||||||||||
| 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 | Chr7:92102697A>T (GRCh38) | |||||||||||||
| Gene symbol | AKAP9 | |||||||||||||
| Gene constraints | LOEUF: 0.67, LOF (oe): 0.61, misssense (oe): 0.91, synonymous (oe): 0.94 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000680952.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.11177A>T g.161858A>T | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 7 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | TGGGTTCCAGGAATGTGAAGATGCCACCTTGGCCCTGCTTG | |||||||||||||
| Altered gDNA sequence snippet | TGGGTTCCAGGAATGTGAAGTTGCCACCTTGGCCCTGCTTG | |||||||||||||
| Original cDNA sequence snippet | TGGGTTCCAGGAATGTGAAGATGCCACCTTGGCCCTGCTTG | |||||||||||||
| Altered cDNA sequence snippet | TGGGTTCCAGGAATGTGAAGTTGCCACCTTGGCCCTGCTTG | |||||||||||||
| Wildtype AA sequence | MEDEERQKKL EAGKAKLAQF RQRKAQSDGQ SPSKKQKKKR KTSSSKHDVS AHHDLNIDQS QCNEMYINSS QRVESTVIPE STIMRTLHSG EITSHEQGFS VELESEISTT ADDCSSEVNG CSFVMRTGKP TNLLREEEFG VDDSYSEQGA QDSPTHLEMM ESELAGKQHE IEELNRELEE MRVTYGTEGL QQLQEFEAAI KQRDGIITQL TANLQQARRE KDETMREFLE LTEQSQKLQI QFQQLQASET LRNSTHSSTA ADLLQAKQQI LTHQQQLEEQ DHLLEDYQKK KEDFTMQISF LQEKIKVYEM EQDKKVENSN KEEIQEKETI IEELNTKIIE EEKKTLELKD KLTTADKLLG ELQEQIVQKN QEIKNMKLEL TNSKQKERQS SEEIKQLMGT VEELQKRNHK DSQFETDIVQ RMEQETQRKL EQLRAELDEM YGQQIVQMKQ ELIRQHMAQM EEMKTRHKGE MENALRSYSN ITVNEDQIKL MNVAINELNI KLQDTNSQKE KLKEELGLIL EEKCALQRQL EDLVEELSFS REQIQRARQT IAEQESKLNE AHKSLSTVED LKAEIVSASE SRKELELKHE AEVTNYKIKL EMLEKEKNAV LDRMAESQEA ELERLRTQLL FSHEEELSKL KEDLEIEHRI NIEKLKDNLG IHYKQQIDGL QNEMSQKIET MQFEKDNLIT KQNQLILEIS KLKDLQQSLV NSKSEEMTLQ INELQKEIEI LRQEEKEKGT LEQEVQELQL KTELLEKQMK EKENDLQEKF AQLEAENSIL KDEKKTLEDM LKIHTPVSQE ERLIFLDSIK SKSKDSVWEK EIEILIEENE DLKQQCIQLN EEIEKQRNTF SFAEKNFEVN YQELQEEYAC LLKVKDDLED SKNKQELEYK SKLKALNEEL HLQRINPTTV KMKSSVFDED KTFVAETLEM GEVVEKDTTE LMEKLEVTKR EKLELSQRLS DLSEQLKQKH GEISFLNEEV KSLKQEKEQV SLRCRELEII INHNRAENVQ SCDTQVSSLL DGVVTMTSRG AEGSVSKVNK SFGEESKIMV EDKVSFENMT VGEESKQEQL ILDHLPSVTK ESSLRATQPS ENDKLQKELN VLKSEQNDLR LQMEAQRICL SLVYSTHVDQ VREYMENEKD KALCSLKEEL IFAQEEKIKE LQKIHQLELQ TMKTQETGDE GKPLHLLIGK LQKAVSEECS YFLQTLCSVL GEYYTPALKC EVNAEDKENS GDYISENEDP ELQDYRYEVQ DFQENMHTLL NKVTEEYNKL LVLQTRLSKI WGQQTDGMKL EFGEENLPKE ETEFLSIHSQ MTNLEDIDVN HKSKLSSLQD LEKTKLEEQV QELESLISSL QQQLKETEQN YEAEIHCLQK RLQAVSESTV PPSLPVDSVV ITESDAQRTM YPGSCVKKNI DGTIEFSGEF GVKEETNIVK LLEKQYQEQL EEEVAKVIVS MSIAFAQQTE LSRISGGKEN TASSKQAHAV CQQEQHYFNE MKLSQDQIGF QTFETVDVKF KEEFKPLSKE LGEHGKEILL SNSDPHDIPE SKDCVLTISE EMFSKDKTFI VRQSIHDEIS VSSMDASRQL MLNEEQLEDM RQELVRQYQE HQQATELLRQ AHMRQMERQR EDQEQLQEEI KRLNRQLAQR SSIDNENLVS ERERVLLEEL EALKQLSLAG REKLCCELRN SSTQTQNGNE NQGEVEEQTF KEKELDRKPE DVPPEILSNE RYALQKANNR LLKILLEVVK TTAAVEETIG RHVLGILDRS SKSQSSASLI WRSEAEASVK SCVHEEHTRV TDESIPSYSG SDMPRNDINM WSKVTEEGTE LSQRLVRSGF AGTEIDPENE ELMLNISSRL QAAVEKLLEA ISETSSQLEH AKVTQTELMR ESFRQKQEAT ESLKCQEELR ERLHEESRAR EQLAVELSKA EGVIDGYADE KTLFERQIQE KTDIIDRLEQ ELLCASNRLQ ELEAEQQQIQ EERELLSRQK EAMKAEAGPV EQQLLQETEK LMKEKLEVQC QAEKVRDDLQ KQVKALEIDV EEQVSRFIEL EQEKNTELMD LRQQNQALEK QLEKMRKFLD EQAIDREHER DVFQQEIQKL EQQLKVVPRF QPISEHQTRE VEQLANHLKE KTDKCSELLL SKEQLQRDIQ ERNEEIEKLE FRVRELEQAL LVEDRKHFGA VEAKPELSLE VQLQAERDAI DRKEKEITNL EEQLEQFREE LENKNEEVQQ LHMQLEIQKK ESTTRLQELE QENKLFKDDM EKLGLAIKES DAMSTQDQHV LFGKFAQIIQ EKEVEIDQLN EQVTKLQQQL KITTDNKVIE EKNELIRDLE TQIECLMSDQ ECVKRNREEE IEQLNEVIEK LQQELANIGQ KTSMNAHSLS EEADSLKHQL DVVIAEKLAL EQQVETANEE MTFMKNVLKE TNFKMNQLTQ ELFSLKRERE SVEKIQSIPE NSVNVAIDHL SKDKPELEVV LTEDALKSLE NQTYFKSFEE NGKGSIINLE TRLLQLESTV SAKDLELTQC YKQIKDMQEQ GQFETEMLQK KIVNLQKIVE EKVAAALVSQ IQLEAVQEYA KFCQDNQTIS SEPERTNIQN LNQLREDELG SDISALTLRI SELESQVVEM HTSLILEKEQ VEIAEKNVLE KEKKLLELQK LLEGNEKKQR EKEKKRSPQD VEVLKTTTEL FHSNEESGFF NELEALRAES VATKAELASY KEKAEKLQEE LLVKETNMTS LQKDLSQVRD HLAEAKEKLS ILEKEDETEV QESKKACMFE PLPIKLSKSI ASQTDGTLKI SSSNQTPQIL VKNAGIQINL QSECSSEEVT EIISQFTEKI EKMQELHAAE ILDMESRHIS ETETLKREHY VAVQLLKEEC GTLKAVIQCL RSKEGSSIPE LAHSDAYQTR EICSSDSGSD WGQGIYLTHS QGFDIASEGR GEESESATDS FPKKIKGLLR AVHNEGMQVL SLTESPYSDG EDHSIQQVSE PWLEERKAYI NTISSLKDLI TKMQLQREAE VYDSSQSHES FSDWRGELLL ALQQVFLEER SVLLAAFRTE LTALGTTDAV GLLNCLEQRI QEQGVEYQAA MECLQKADRR SLLSEIQALH AQMNGRKITL KREQESEKPS QELLEYNIQQ KQSQMLEMQV ELSSMKDRAT ELQEQLSSEK MVVAELKSEL AQTKLELETT LKAQHKHLKE LEAFRLEVKD KTDEVHLLND TLASEQKKSR ELQWALEKEK AKLGRSEERD KEELEDLKFS LESQKQRNLQ LNLLLEQQKQ LLNESQQKIE SQRMLYDAQL SEEQGRNLEL QVLLESEKVR IREMSSTLDR ERELHAQLQS SDGTGQSRPP LPSEDLLKEL QKQLEEKHSR IVELLNETEK YKLDSLQTRQ QMEKDRQVHR KTLQTEQEAN TEGQKKMHEL QSKVEDLQRQ LEEKRQQVYK LDLEGQRLQG IMQEFQKQEL EREEKRESRR ILYQNLNEPT TWSLTSDRTR NWVLQQKIEG ETKESNYAKL IEMNGGGTGC NHELEMIRQK LQCVASKLQV LPQKASERLQ FETADDEDFI WVQENIDEII LQLQKLTGQQ GEEPSLVSPS TSCGSLTERL LRQNAELTGH ISQLTEEKND LRNMVMKLEE QIRWYRQTGA GRDNSSRFSL NGGANIEAII ASEKEVWNRE KLTLQKSLKR AEAEVYKLKA ELRNDSLLQT LSPDSEHVTL KRIYGKYLRA ESFRKALIYQ KKYLLLLLGG FQECEDATLA LLARMGGQPA FTDLEVITNR PKGFTRFRSA VRVSIAISRY PGTPADFNPG SLACSQLQNY DPDRALTDYI TRLEALQRRL GTIQSGSTTQ FHAGMRR* | |||||||||||||
| Mutated AA sequence | MEDEERQKKL EAGKAKLAQF RQRKAQSDGQ SPSKKQKKKR KTSSSKHDVS AHHDLNIDQS QCNEMYINSS QRVESTVIPE STIMRTLHSG EITSHEQGFS VELESEISTT ADDCSSEVNG CSFVMRTGKP TNLLREEEFG VDDSYSEQGA QDSPTHLEMM ESELAGKQHE IEELNRELEE MRVTYGTEGL QQLQEFEAAI KQRDGIITQL TANLQQARRE KDETMREFLE LTEQSQKLQI QFQQLQASET LRNSTHSSTA ADLLQAKQQI LTHQQQLEEQ DHLLEDYQKK KEDFTMQISF LQEKIKVYEM EQDKKVENSN KEEIQEKETI IEELNTKIIE EEKKTLELKD KLTTADKLLG ELQEQIVQKN QEIKNMKLEL TNSKQKERQS SEEIKQLMGT VEELQKRNHK DSQFETDIVQ RMEQETQRKL EQLRAELDEM YGQQIVQMKQ ELIRQHMAQM EEMKTRHKGE MENALRSYSN ITVNEDQIKL MNVAINELNI KLQDTNSQKE KLKEELGLIL EEKCALQRQL EDLVEELSFS REQIQRARQT IAEQESKLNE AHKSLSTVED LKAEIVSASE SRKELELKHE AEVTNYKIKL EMLEKEKNAV LDRMAESQEA ELERLRTQLL FSHEEELSKL KEDLEIEHRI NIEKLKDNLG IHYKQQIDGL QNEMSQKIET MQFEKDNLIT KQNQLILEIS KLKDLQQSLV NSKSEEMTLQ INELQKEIEI LRQEEKEKGT LEQEVQELQL KTELLEKQMK EKENDLQEKF AQLEAENSIL KDEKKTLEDM LKIHTPVSQE ERLIFLDSIK SKSKDSVWEK EIEILIEENE DLKQQCIQLN EEIEKQRNTF SFAEKNFEVN YQELQEEYAC LLKVKDDLED SKNKQELEYK SKLKALNEEL HLQRINPTTV KMKSSVFDED KTFVAETLEM GEVVEKDTTE LMEKLEVTKR EKLELSQRLS DLSEQLKQKH GEISFLNEEV KSLKQEKEQV SLRCRELEII INHNRAENVQ SCDTQVSSLL DGVVTMTSRG AEGSVSKVNK SFGEESKIMV EDKVSFENMT VGEESKQEQL ILDHLPSVTK ESSLRATQPS ENDKLQKELN VLKSEQNDLR LQMEAQRICL SLVYSTHVDQ VREYMENEKD KALCSLKEEL IFAQEEKIKE LQKIHQLELQ TMKTQETGDE GKPLHLLIGK LQKAVSEECS YFLQTLCSVL GEYYTPALKC EVNAEDKENS GDYISENEDP ELQDYRYEVQ DFQENMHTLL NKVTEEYNKL LVLQTRLSKI WGQQTDGMKL EFGEENLPKE ETEFLSIHSQ MTNLEDIDVN HKSKLSSLQD LEKTKLEEQV QELESLISSL QQQLKETEQN YEAEIHCLQK RLQAVSESTV PPSLPVDSVV ITESDAQRTM YPGSCVKKNI DGTIEFSGEF GVKEETNIVK LLEKQYQEQL EEEVAKVIVS MSIAFAQQTE LSRISGGKEN TASSKQAHAV CQQEQHYFNE MKLSQDQIGF QTFETVDVKF KEEFKPLSKE LGEHGKEILL SNSDPHDIPE SKDCVLTISE EMFSKDKTFI VRQSIHDEIS VSSMDASRQL MLNEEQLEDM RQELVRQYQE HQQATELLRQ AHMRQMERQR EDQEQLQEEI KRLNRQLAQR SSIDNENLVS ERERVLLEEL EALKQLSLAG REKLCCELRN SSTQTQNGNE NQGEVEEQTF KEKELDRKPE DVPPEILSNE RYALQKANNR LLKILLEVVK TTAAVEETIG RHVLGILDRS SKSQSSASLI WRSEAEASVK SCVHEEHTRV TDESIPSYSG SDMPRNDINM WSKVTEEGTE LSQRLVRSGF AGTEIDPENE ELMLNISSRL QAAVEKLLEA ISETSSQLEH AKVTQTELMR ESFRQKQEAT ESLKCQEELR ERLHEESRAR EQLAVELSKA EGVIDGYADE KTLFERQIQE KTDIIDRLEQ ELLCASNRLQ ELEAEQQQIQ EERELLSRQK EAMKAEAGPV EQQLLQETEK LMKEKLEVQC QAEKVRDDLQ KQVKALEIDV EEQVSRFIEL EQEKNTELMD LRQQNQALEK QLEKMRKFLD EQAIDREHER DVFQQEIQKL EQQLKVVPRF QPISEHQTRE VEQLANHLKE KTDKCSELLL SKEQLQRDIQ ERNEEIEKLE FRVRELEQAL LVEDRKHFGA VEAKPELSLE VQLQAERDAI DRKEKEITNL EEQLEQFREE LENKNEEVQQ LHMQLEIQKK ESTTRLQELE QENKLFKDDM EKLGLAIKES DAMSTQDQHV LFGKFAQIIQ EKEVEIDQLN EQVTKLQQQL KITTDNKVIE EKNELIRDLE TQIECLMSDQ ECVKRNREEE IEQLNEVIEK LQQELANIGQ KTSMNAHSLS EEADSLKHQL DVVIAEKLAL EQQVETANEE MTFMKNVLKE TNFKMNQLTQ ELFSLKRERE SVEKIQSIPE NSVNVAIDHL SKDKPELEVV LTEDALKSLE NQTYFKSFEE NGKGSIINLE TRLLQLESTV SAKDLELTQC YKQIKDMQEQ GQFETEMLQK KIVNLQKIVE EKVAAALVSQ IQLEAVQEYA KFCQDNQTIS SEPERTNIQN LNQLREDELG SDISALTLRI SELESQVVEM HTSLILEKEQ VEIAEKNVLE KEKKLLELQK LLEGNEKKQR EKEKKRSPQD VEVLKTTTEL FHSNEESGFF NELEALRAES VATKAELASY KEKAEKLQEE LLVKETNMTS LQKDLSQVRD HLAEAKEKLS ILEKEDETEV QESKKACMFE PLPIKLSKSI ASQTDGTLKI SSSNQTPQIL VKNAGIQINL QSECSSEEVT EIISQFTEKI EKMQELHAAE ILDMESRHIS ETETLKREHY VAVQLLKEEC GTLKAVIQCL RSKEGSSIPE LAHSDAYQTR EICSSDSGSD WGQGIYLTHS QGFDIASEGR GEESESATDS FPKKIKGLLR AVHNEGMQVL SLTESPYSDG EDHSIQQVSE PWLEERKAYI NTISSLKDLI TKMQLQREAE VYDSSQSHES FSDWRGELLL ALQQVFLEER SVLLAAFRTE LTALGTTDAV GLLNCLEQRI QEQGVEYQAA MECLQKADRR SLLSEIQALH AQMNGRKITL KREQESEKPS QELLEYNIQQ KQSQMLEMQV ELSSMKDRAT ELQEQLSSEK MVVAELKSEL AQTKLELETT LKAQHKHLKE LEAFRLEVKD KTDEVHLLND TLASEQKKSR ELQWALEKEK AKLGRSEERD KEELEDLKFS LESQKQRNLQ LNLLLEQQKQ LLNESQQKIE SQRMLYDAQL SEEQGRNLEL QVLLESEKVR IREMSSTLDR ERELHAQLQS SDGTGQSRPP LPSEDLLKEL QKQLEEKHSR IVELLNETEK YKLDSLQTRQ QMEKDRQVHR KTLQTEQEAN TEGQKKMHEL QSKVEDLQRQ LEEKRQQVYK LDLEGQRLQG IMQEFQKQEL EREEKRESRR ILYQNLNEPT TWSLTSDRTR NWVLQQKIEG ETKESNYAKL IEMNGGGTGC NHELEMIRQK LQCVASKLQV LPQKASERLQ FETADDEDFI WVQENIDEII LQLQKLTGQQ GEEPSLVSPS TSCGSLTERL LRQNAELTGH ISQLTEEKND LRNMVMKLEE QIRWYRQTGA GRDNSSRFSL NGGANIEAII ASEKEVWNRE KLTLQKSLKR AEAEVYKLKA ELRNDSLLQT LSPDSEHVTL KRIYGKYLRA ESFRKALIYQ KKYLLLLLGG FQECEVATLA LLARMGGQPA FTDLEVITNR PKGFTRFRSA VRVSIAISRY PGTPADFNPG SLACSQLQNY DPDRALTDYI TRLEALQRRL GTIQSGSTTQ FHAGMRR* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 11484 / 11484 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 3828 / 3828 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 11706 / 11706 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 223 / 223 | |||||||||||||
| Last intron/exon boundary | 11668 | |||||||||||||
| Theoretical NMD boundary in CDS | 11395 | |||||||||||||
| Length of CDS | 11484 | |||||||||||||
| Coding sequence (CDS) position | 11177 | |||||||||||||
| cDNA position | 11399 | |||||||||||||
| gDNA position | 161858 | |||||||||||||
| Chromosomal position | 92102697 | |||||||||||||
| 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 | Chr7:92102697A>T (GRCh38) | |||||||||||||
| Gene symbol | AKAP9 | |||||||||||||
| Gene constraints | LOEUF: 0.67, LOF (oe): 0.60, misssense (oe): 0.91, synonymous (oe): 0.94 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000681412.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.11201A>T g.161858A>T | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 7 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | TGGGTTCCAGGAATGTGAAGATGCCACCTTGGCCCTGCTTG | |||||||||||||
| Altered gDNA sequence snippet | TGGGTTCCAGGAATGTGAAGTTGCCACCTTGGCCCTGCTTG | |||||||||||||
| Original cDNA sequence snippet | TGGGTTCCAGGAATGTGAAGATGCCACCTTGGCCCTGCTTG | |||||||||||||
| Altered cDNA sequence snippet | TGGGTTCCAGGAATGTGAAGTTGCCACCTTGGCCCTGCTTG | |||||||||||||
| Wildtype AA sequence | MEDEERQKKL EAGKAKLAQF RQRKAQSDGQ SPSKKQKKKR KTSSSKHDVS AHHDLNIDQS QCNEMYINSS QRVESTVIPE STIMRTLHSG EITSHEQGFS VELESEISTT ADDCSSEVNG CSFVMRTGKP TNLLREEEFG VDDSYSEQGA QDSPTHLEMM ESELAGKQHE IEELNRELEE MRVTYGTEGL QQLQEFEAAI KQRDGIITQL TANLQQARRE KDETMREFLE LTEQSQKLQI QFQQLQASET LRNSTHSSTA ADLLQAKQQI LTHQQQLEEQ DHLLEDYQKK KEDFTMQISF LQEKIKVYEM EQDKKVENSN KEEIQEKETI IEELNTKIIE EEKKTLELKD KLTTADKLLG ELQEQIVQKN QEIKNMKLEL TNSKQKERQS SEEIKQLMGT VEELQKRNHK DSQFETDIVQ RMEQETQRKL EQLRAELDEM YGQQIVQMKQ ELIRQHMAQM EEMKTRHKGE MENALRSYSN ITVNEDQIKL MNVAINELNI KLQDTNSQKE KLKEELGLIL EEKCALQRQL EDLVEELSFS REQIQRARQT IAEQESKLNE AHKSLSTVED LKAEIVSASE SRKELELKHE AEVTNYKIKL EMLEKEKNAV LDRMAESQEA ELERLRTQLL FSHEEELSKL KEDLEIEHRI NIEKLKDNLG IHYKQQIDGL QNEMSQKIET MQFEKDNLIT KQNQLILEIS KLKDLQQSLV NSKSEEMTLQ INELQKEIEI LRQEEKEKGT LEQEVQELQL KTELLEKQMK EKENDLQEKF AQLEAENSIL KDEKKTLEDM LKIHTPVSQE ERLIFLDSIK SKSKDSVWEK EIEILIEENE DLKQQCIQLN EEIEKQRNTF SFAEKNFEVN YQELQEEYAC LLKVKDDLED SKNKQELEYK SKLKALNEEL HLQRINPTTV KMKSSVFDED KTFVAETLEM GEVVEKDTTE LMEKLEVTKR EKLELSQRLS DLSEQLKQKH GEISFLNEEV KSLKQEKEQV SLRCRELEII INHNRAENVQ SCDTQVSSLL DGVVTMTSRG AEGSVSKVNK SFGEESKIMV EDKVSFENMT VGEESKQEQL ILDHLPSVTK ESSLRATQPS ENDKLQKELN VLKSEQNDLR LQMEAQRICL SLVYSTHVDQ VREYMENEKD KALCSLKEEL IFAQEEKIKE LQKIHQLELQ TMKTQETGDE GKPLHLLIGK LQKAVSEECS YFLQTLCSVL GEYYTPALKC EVNAEDKENS GDYISENEDP ELQDYRYEVQ DFQENMHTLL NKVTEEYNKL LVLQTRLSKI WGQQTDGMKL EFGEENLPKE ETEFLSIHSQ MTNLEDIDVN HKSKLSSLQD LEKTKLEEQV QELESLISSL QQQLKETEQN YEAEIHCLQK RLQAVSESTV PPSLPVDSVV ITESDAQRTM YPGSCVKKNI DGTIEFSGEF GVKEETNIVK LLEKQYQEQL EEEVAKVIVS MSIAFAQQTE LSRISGGKEN TASSKQAHAV CQQEQHYFNE MKLSQDQIGF QTFETVDVKF KEEFKPLSKE LGEHGKEILL SNSDPHDIPE SKDCVLTISE EMFSKDKTFI VRQSIHDEIS VSSMDASRQL MLNEEQLEDM RQELVRQYQE HQQATELLRQ AHMRQMERQR EDQEQLQEEI KRLNRQLAQR SSIDNENLVS ERERVLLEEL EALKQLSLAG REKLCCELRN SSTQTQNGNE NQGEVEEQTF KEKELDRKPE DVPPEILSNE RYALQKANNR LLKILLEVVK TTAAVEETIG RHVLGILDRS SKSQSSASLI WRSEAEASVK SCVHEEHTRV TDESIPSYSG SDMPRNDINM WSKVTEEGTE LSQRLVRSGF AGTEIDPENE ELMLNISSRL QAAVEKLLEA ISETSSQLEH AKVTQTELMR ESFRQKQEAT ESLKCQEELR ERLHEESRAR EQLAVELSKA EGVIDGYADE KTLFERQIQE KTDIIDRLEQ ELLCASNRLQ ELEAEQQQIQ EERELLSRQK EAMKAEAGPV EQQLLQETEK LMKEKLEVQC QAEKVRDDLQ KQVKALEIDV EEQVSRFIEL EQEKNTELMD LRQQNQALEK QLEKMRKFLD EQAIDREHER DVFQQEIQKL EQQLKVVPRF QPISEHQTRE VEQLANHLKE KTDKCSELLL SKEQLQRDIQ ERNEEIEKLE FRVRELEQAL LVSADTFQKV EDRKHFGAVE AKPELSLEVQ LQAERDAIDR KEKEITNLEE QLEQFREELE NKNEEVQQLH MQLEIQKKES TTRLQELEQE NKLFKDDMEK LGLAIKESDA MSTQDQHVLF GKFAQIIQEK EVEIDQLNEQ VTKLQQQLKI TTDNKVIEEK NELIRDLETQ IECLMSDQEC VKRNREEEIE QLNEVIEKLQ QELANIGQKT SMNAHSLSEE ADSLKHQLDV VIAEKLALEQ QVETANEEMT FMKNVLKETN FKMNQLTQEL FSLKRERESV EKIQSIPENS VNVAIDHLSK DKPELEVVLT EDALKSLENQ TYFKSFEENG KGSIINLETR LLQLESTVSA KDLELTQCYK QIKDMQEQGQ FETEMLQKKI VNLQKIVEEK VAAALVSQIQ LEAVQEYAKF CQDNQTISSE PERTNIQNLN QLREDELGSD ISALTLRISE LESQVVEMHT SLILEKEQVE IAEKNVLEKE KKLLELQKLL EGNEKKQREK EKKRSPQDVE VLKTTTELFH SNEESGFFNE LEALRAESVA TKAELASYKE KAEKLQEELL VKETNMTSLQ KDLSQVRDHL AEAKEKLSIL EKEDETEVQE SKKACMFEPL PIKLSKSIAS QTDGTLKISS SNQTPQILVK NAGIQINLQS ECSSEEVTEI ISQFTEKIEK MQELHAAEIL DMESRHISET ETLKREHYVA VQLLKEECGT LKAVIQCLRS KEGSSIPELA HSDAYQTREI CSSDSGSDWG QGIYLTHSQG FDIASEGRGE ESESATDSFP KKIKGLLRAV HNEGMQVLSL TESPYSDGED HSIQQVSEPW LEERKAYINT ISSLKDLITK MQLQREAEVY DSSQSHESFS DWRGELLLAL QQVFLEERSV LLAAFRTELT ALGTTDAVGL LNCLEQRIQE QGVEYQAAME CLQKADRRSL LSEIQALHAQ MNGRKITLKR EQESEKPSQE LLEYNIQQKQ SQMLEMQVEL SSMKDRATEL QEQLSSEKMV VAELKSELAQ TKLELETTLK AQHKHLKELE AFRLEVKDKT DEVHLLNDTL ASEQKKSREL QWALEKEKAK LGRSEERDKE ELEDLKFSLE SQKQRNLQLN LLLEQQKQLL NESQQKIESQ RMLYDAQLSE EQGRNLELQV LLESEKVRIR EMSSTLDRER ELHAQLQSSD GTGQSRPPLP SEDLLKELQK QLEEKHSRIV ELLNETEKYK LDSLQTRQQM EKDRQVHRKT LQTEQEANTE GQKKMHELQS KVEDLQRQLE EKRQQVYKLD LEGQRLQGIM QEFQKQELER EEKRESRRIL YQNLNEPTTW SLTSDRTRNW VLQQKIEGET KESNYAKLIE MNGGGTGCNH ELEMIRQKLQ CVASKLQVLP QKASERLQFE TADDEDFIWV QENIDEIILQ LQKLTGQQGE EPSLVSPSTS CGSLTERLLR QNAELTGHIS QLTEEKNDLR NMVMKLEEQI RWYRQTGAGR DNSSRFSLNG GANIEAIIAS EKEVWNREKL TLQKSLKRAE AEVYKLKAEL RNDSLLQTLS PDSEHVTLKR IYGKYLRAES FRKALIYQKK YLLLLLGGFQ ECEDATLALL ARMGGQPAFT DLEVITNRPK GFTRFRSAVR VSIAISRMKF LVRRWHRVTG SVSININRDG FGLNQGAEKT DSFYHSSGGL ELYGEPRHTT YRSRSDLDYI RSPLPFQNRY PGTPADFNPG SLACSQLQNY DPDRALTDYI TRLEALQRRL GTIQSGALSL TTSWQHHSAR PTAPLSLKFF HTH* | |||||||||||||
| Mutated AA sequence | MEDEERQKKL EAGKAKLAQF RQRKAQSDGQ SPSKKQKKKR KTSSSKHDVS AHHDLNIDQS QCNEMYINSS QRVESTVIPE STIMRTLHSG EITSHEQGFS VELESEISTT ADDCSSEVNG CSFVMRTGKP TNLLREEEFG VDDSYSEQGA QDSPTHLEMM ESELAGKQHE IEELNRELEE MRVTYGTEGL QQLQEFEAAI KQRDGIITQL TANLQQARRE KDETMREFLE LTEQSQKLQI QFQQLQASET LRNSTHSSTA ADLLQAKQQI LTHQQQLEEQ DHLLEDYQKK KEDFTMQISF LQEKIKVYEM EQDKKVENSN KEEIQEKETI IEELNTKIIE EEKKTLELKD KLTTADKLLG ELQEQIVQKN QEIKNMKLEL TNSKQKERQS SEEIKQLMGT VEELQKRNHK DSQFETDIVQ RMEQETQRKL EQLRAELDEM YGQQIVQMKQ ELIRQHMAQM EEMKTRHKGE MENALRSYSN ITVNEDQIKL MNVAINELNI KLQDTNSQKE KLKEELGLIL EEKCALQRQL EDLVEELSFS REQIQRARQT IAEQESKLNE AHKSLSTVED LKAEIVSASE SRKELELKHE AEVTNYKIKL EMLEKEKNAV LDRMAESQEA ELERLRTQLL FSHEEELSKL KEDLEIEHRI NIEKLKDNLG IHYKQQIDGL QNEMSQKIET MQFEKDNLIT KQNQLILEIS KLKDLQQSLV NSKSEEMTLQ INELQKEIEI LRQEEKEKGT LEQEVQELQL KTELLEKQMK EKENDLQEKF AQLEAENSIL KDEKKTLEDM LKIHTPVSQE ERLIFLDSIK SKSKDSVWEK EIEILIEENE DLKQQCIQLN EEIEKQRNTF SFAEKNFEVN YQELQEEYAC LLKVKDDLED SKNKQELEYK SKLKALNEEL HLQRINPTTV KMKSSVFDED KTFVAETLEM GEVVEKDTTE LMEKLEVTKR EKLELSQRLS DLSEQLKQKH GEISFLNEEV KSLKQEKEQV SLRCRELEII INHNRAENVQ SCDTQVSSLL DGVVTMTSRG AEGSVSKVNK SFGEESKIMV EDKVSFENMT VGEESKQEQL ILDHLPSVTK ESSLRATQPS ENDKLQKELN VLKSEQNDLR LQMEAQRICL SLVYSTHVDQ VREYMENEKD KALCSLKEEL IFAQEEKIKE LQKIHQLELQ TMKTQETGDE GKPLHLLIGK LQKAVSEECS YFLQTLCSVL GEYYTPALKC EVNAEDKENS GDYISENEDP ELQDYRYEVQ DFQENMHTLL NKVTEEYNKL LVLQTRLSKI WGQQTDGMKL EFGEENLPKE ETEFLSIHSQ MTNLEDIDVN HKSKLSSLQD LEKTKLEEQV QELESLISSL QQQLKETEQN YEAEIHCLQK RLQAVSESTV PPSLPVDSVV ITESDAQRTM YPGSCVKKNI DGTIEFSGEF GVKEETNIVK LLEKQYQEQL EEEVAKVIVS MSIAFAQQTE LSRISGGKEN TASSKQAHAV CQQEQHYFNE MKLSQDQIGF QTFETVDVKF KEEFKPLSKE LGEHGKEILL SNSDPHDIPE SKDCVLTISE EMFSKDKTFI VRQSIHDEIS VSSMDASRQL MLNEEQLEDM RQELVRQYQE HQQATELLRQ AHMRQMERQR EDQEQLQEEI KRLNRQLAQR SSIDNENLVS ERERVLLEEL EALKQLSLAG REKLCCELRN SSTQTQNGNE NQGEVEEQTF KEKELDRKPE DVPPEILSNE RYALQKANNR LLKILLEVVK TTAAVEETIG RHVLGILDRS SKSQSSASLI WRSEAEASVK SCVHEEHTRV TDESIPSYSG SDMPRNDINM WSKVTEEGTE LSQRLVRSGF AGTEIDPENE ELMLNISSRL QAAVEKLLEA ISETSSQLEH AKVTQTELMR ESFRQKQEAT ESLKCQEELR ERLHEESRAR EQLAVELSKA EGVIDGYADE KTLFERQIQE KTDIIDRLEQ ELLCASNRLQ ELEAEQQQIQ EERELLSRQK EAMKAEAGPV EQQLLQETEK LMKEKLEVQC QAEKVRDDLQ KQVKALEIDV EEQVSRFIEL EQEKNTELMD LRQQNQALEK QLEKMRKFLD EQAIDREHER DVFQQEIQKL EQQLKVVPRF QPISEHQTRE VEQLANHLKE KTDKCSELLL SKEQLQRDIQ ERNEEIEKLE FRVRELEQAL LVSADTFQKV EDRKHFGAVE AKPELSLEVQ LQAERDAIDR KEKEITNLEE QLEQFREELE NKNEEVQQLH MQLEIQKKES TTRLQELEQE NKLFKDDMEK LGLAIKESDA MSTQDQHVLF GKFAQIIQEK EVEIDQLNEQ VTKLQQQLKI TTDNKVIEEK NELIRDLETQ IECLMSDQEC VKRNREEEIE QLNEVIEKLQ QELANIGQKT SMNAHSLSEE ADSLKHQLDV VIAEKLALEQ QVETANEEMT FMKNVLKETN FKMNQLTQEL FSLKRERESV EKIQSIPENS VNVAIDHLSK DKPELEVVLT EDALKSLENQ TYFKSFEENG KGSIINLETR LLQLESTVSA KDLELTQCYK QIKDMQEQGQ FETEMLQKKI VNLQKIVEEK VAAALVSQIQ LEAVQEYAKF CQDNQTISSE PERTNIQNLN QLREDELGSD ISALTLRISE LESQVVEMHT SLILEKEQVE IAEKNVLEKE KKLLELQKLL EGNEKKQREK EKKRSPQDVE VLKTTTELFH SNEESGFFNE LEALRAESVA TKAELASYKE KAEKLQEELL VKETNMTSLQ KDLSQVRDHL AEAKEKLSIL EKEDETEVQE SKKACMFEPL PIKLSKSIAS QTDGTLKISS SNQTPQILVK NAGIQINLQS ECSSEEVTEI ISQFTEKIEK MQELHAAEIL DMESRHISET ETLKREHYVA VQLLKEECGT LKAVIQCLRS KEGSSIPELA HSDAYQTREI CSSDSGSDWG QGIYLTHSQG FDIASEGRGE ESESATDSFP KKIKGLLRAV HNEGMQVLSL TESPYSDGED HSIQQVSEPW LEERKAYINT ISSLKDLITK MQLQREAEVY DSSQSHESFS DWRGELLLAL QQVFLEERSV LLAAFRTELT ALGTTDAVGL LNCLEQRIQE QGVEYQAAME CLQKADRRSL LSEIQALHAQ MNGRKITLKR EQESEKPSQE LLEYNIQQKQ SQMLEMQVEL SSMKDRATEL QEQLSSEKMV VAELKSELAQ TKLELETTLK AQHKHLKELE AFRLEVKDKT DEVHLLNDTL ASEQKKSREL QWALEKEKAK LGRSEERDKE ELEDLKFSLE SQKQRNLQLN LLLEQQKQLL NESQQKIESQ RMLYDAQLSE EQGRNLELQV LLESEKVRIR EMSSTLDRER ELHAQLQSSD GTGQSRPPLP SEDLLKELQK QLEEKHSRIV ELLNETEKYK LDSLQTRQQM EKDRQVHRKT LQTEQEANTE GQKKMHELQS KVEDLQRQLE EKRQQVYKLD LEGQRLQGIM QEFQKQELER EEKRESRRIL YQNLNEPTTW SLTSDRTRNW VLQQKIEGET KESNYAKLIE MNGGGTGCNH ELEMIRQKLQ CVASKLQVLP QKASERLQFE TADDEDFIWV QENIDEIILQ LQKLTGQQGE EPSLVSPSTS CGSLTERLLR QNAELTGHIS QLTEEKNDLR NMVMKLEEQI RWYRQTGAGR DNSSRFSLNG GANIEAIIAS EKEVWNREKL TLQKSLKRAE AEVYKLKAEL RNDSLLQTLS PDSEHVTLKR IYGKYLRAES FRKALIYQKK YLLLLLGGFQ ECEVATLALL ARMGGQPAFT DLEVITNRPK GFTRFRSAVR VSIAISRMKF LVRRWHRVTG SVSININRDG FGLNQGAEKT DSFYHSSGGL ELYGEPRHTT YRSRSDLDYI RSPLPFQNRY PGTPADFNPG SLACSQLQNY DPDRALTDYI TRLEALQRRL GTIQSGALSL TTSWQHHSAR PTAPLSLKFF HTH* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 11772 / 11772 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 3924 / 3924 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 11994 / 11994 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 223 / 223 | |||||||||||||
| Last intron/exon boundary | 11768 | |||||||||||||
| Theoretical NMD boundary in CDS | 11495 | |||||||||||||
| Length of CDS | 11772 | |||||||||||||
| Coding sequence (CDS) position | 11201 | |||||||||||||
| cDNA position | 11423 | |||||||||||||
| gDNA position | 161858 | |||||||||||||
| Chromosomal position | 92102697 | |||||||||||||
| 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 | Chr7:92102697A>T (GRCh38) | |||||||||||||
| Gene symbol | AKAP9 | |||||||||||||
| Gene constraints | LOEUF: 0.67, LOF (oe): 0.60, misssense (oe): 0.91, synonymous (oe): 0.94 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000359028.7 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.11273A>T g.161858A>T | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 7 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | TGGGTTCCAGGAATGTGAAGATGCCACCTTGGCCCTGCTTG | |||||||||||||
| Altered gDNA sequence snippet | TGGGTTCCAGGAATGTGAAGTTGCCACCTTGGCCCTGCTTG | |||||||||||||
| Original cDNA sequence snippet | TGGGTTCCAGGAATGTGAAGATGCCACCTTGGCCCTGCTTG | |||||||||||||
| Altered cDNA sequence snippet | TGGGTTCCAGGAATGTGAAGTTGCCACCTTGGCCCTGCTTG | |||||||||||||
| Wildtype AA sequence | MEDEERQKKL EAGKAKLAQF RQRKAQSDGQ SPSKKQKKKR KTSSSKHDVS AHHDLNIDQS QCNEMYINSS QRVESTVIPE STIMRTLHSG EITSHEQGFS VELESEISTT ADDCSSEVNG CSFVMRTGKP TNLLREEEFG VDDSYSEQGA QDSPTHLEMM ESELAGKQHE IEELNRELEE MRVTYGTEGL QQLQEFEAAI KQRDGIITQL TANLQQARRE KDETMREFLE LTEQSQKLQI QFQQLQASET LRNSTHSSTA ADLLQAKQQI LTHQQQLEEQ DHLLEDYQKK KEDFTMQISF LQEKIKVYEM EQDKKVENSN KEEIQEKETI IEELNTKIIE EEKKTLELKD KLTTADKLLG ELQEQIVQKN QEIKNMKLEL TNSKQKERQS SEEIKQLMGT VEELQKRNHK DSQFETDIVQ RMEQETQRKL EQLRAELDEM YGQQIVQMKQ ELIRQHMAQM EEMKTRHKGE MENALRSYSN ITVNEDQIKL MNVAINELNI KLQDTNSQKE KLKEELGLIL EEKCALQRQL EDLVEELSFS REQIQRARQT IAEQESKLNE AHKSLSTVED LKAEIVSASE SRKELELKHE AEVTNYKIKL EMLEKEKNAV LDRMAESQEA ELERLRTQLL FSHEEELSKL KEDLEIEHRI NIEKLKDNLG IHYKQQIDGL QNEMSQKIET MQFEKDNLIT KQNQLILEIS KLKDLQQSLV NSKSEEMTLQ INELQKEIEI LRQEEKEKGT LEQEVQELQL KTELLEKQMK EKENDLQEKF AQLEAENSIL KDEKKTLEDM LKIHTPVSQE ERLIFLDSIK SKSKDSVWEK EIEILIEENE DLKQQCIQLN EEIEKQRNTF SFAEKNFEVN YQELQEEYAC LLKVKDDLED SKNKQELEYK SKLKALNEEL HLQRINPTTV KMKSSVFDED KTFVAETLEM GEVVEKDTTE LMEKLEVTKR EKLELSQRLS DLSEQLKQKH GEISFLNEEV KSLKQEKEQV SLRCRELEII INHNRAENVQ SCDTQVSSLL DGVVTMTSRG AEGSVSKVNK SFGEESKIMV EDKVSFENMT VGEESKQEQL ILDHLPSVTK ESSLRATQPS ENDKLQKELN VLKSEQNDLR LQMEAQRICL SLVYSTHVDQ VREYMENEKD KALCSLKEEL IFAQEEKIKE LQKIHQLELQ TMKTQETGDE GKPLHLLIGK LQKAVSEECS YFLQTLCSVL GEYYTPALKC EVNAEDKENS GDYISENEDP ELQDYRYEVQ DFQENMHTLL NKVTEEYNKL LVLQTRLSKI WGQQTDGMKL EFGEENLPKE ETEFLSIHSQ MTNLEDIDVN HKSKLSSLQD LEKTKLEEQV QELESLISSL QQQLKETEQN YEAEIHCLQK RLQAVSESTV PPSLPVDSVV ITESDAQRTM YPGSCVKKNI DGTIEFSGEF GVKEETNIVK LLEKQYQEQL EEEVAKVIVS MSIAFAQQTE LSRISGGKEN TASSKQAHAV CQQEQHYFNE MKLSQDQIGF QTFETVDVKF KEEFKPLSKE LGEHGKEILL SNSDPHDIPE SKDCVLTISE EMFSKDKTFI VRQSIHDEIS VSSMDASRQL MLNEEQLEDM RQELVRQYQE HQQATELLRQ AHMRQMERQR EDQEQLQEEI KRLNRQLAQR SSIDNENLVS ERERVLLEEL EALKQLSLAG REKLCCELRN SSTQTQNGNE NQGEVEEQTF KEKELDRKPE DVPPEILSNE SLHGGIWPLR FWLPHWIISM ERSQYGTQTR KTVYALQKAN NRLLKILLEV VKTTAAVEET IGRHVLGILD RSSKSQSSAS LIWRSEAEAS VKSCVHEEHT RVTDESIPSY SGSDMPRNDI NMWSKVTEEG TELSQRLVRS GFAGTEIDPE NEELMLNISS RLQAAVEKLL EAISETSSQL EHAKVTQTEL MRESFRQKQE ATESLKCQEE LRERLHEESR AREQLAVELS KAEGVIDGYA DEKTLFERQI QEKTDIIDRL EQELLCASNR LQELEAEQQQ IQEERELLSR QKEAMKAEAG PVEQQLLQET EKLMKEKLEV QCQAEKVRDD LQKQVKALEI DVEEQVSRFI ELEQEKNTEL MDLRQQNQAL EKQLEKMRKF LDEQAIDREH ERDVFQQEIQ KLEQQLKVVP RFQPISEHQT REVEQLANHL KEKTDKCSEL LLSKEQLQRD IQERNEEIEK LEFRVRELEQ ALLVEDRKHF GAVEAKPELS LEVQLQAERD AIDRKEKEIT NLEEQLEQFR EELENKNEEV QQLHMQLEIQ KKESTTRLQE LEQENKLFKD DMEKLGLAIK ESDAMSTQDQ HVLFGKFAQI IQEKEVEIDQ LNEQVTKLQQ QLKITTDNKV IEEKNELIRD LETQIECLMS DQECVKRNRE EEIEQLNEVI EKLQQELANI GQKTSMNAHS LSEEADSLKH QLDVVIAEKL ALEQQVETAN EEMTFMKNVL KETNFKMNQL TQELFSLKRE RESVEKIQSI PENSVNVAID HLSKDKPELE VVLTEDALKS LENQTYFKSF EENGKGSIIN LETRLLQLES TVSAKDLELT QCYKQIKDMQ EQGQFETEML QKKIVNLQKI VEEKVAAALV SQIQLEAVQE YAKFCQDNQT ISSEPERTNI QNLNQLREDE LGSDISALTL RISELESQVV EMHTSLILEK EQVEIAEKNV LEKEKKLLEL QKLLEGNEKK QREKEKKRSP QDVEVLKTTT ELFHSNEESG FFNELEALRA ESVATKAELA SYKEKAEKLQ EELLVKETNM TSLQKDLSQV RDHLAEAKEK LSILEKEDET EVQESKKACM FEPLPIKLSK SIASQTDGTL KISSSNQTPQ ILVKNAGIQI NLQSECSSEE VTEIISQFTE KIEKMQELHA AEILDMESRH ISETETLKRE HYVAVQLLKE ECGTLKAVIQ CLRSKEGSSI PELAHSDAYQ TREICSSDSG SDWGQGIYLT HSQGFDIASE GRGEESESAT DSFPKKIKGL LRAVHNEGMQ VLSLTESPYS DGEDHSIQQV SEPWLEERKA YINTISSLKD LITKMQLQRE AEVYDSSQSH ESFSDWRGEL LLALQQVFLE ERSVLLAAFR TELTALGTTD AVGLLNCLEQ RIQEQGVEYQ AAMECLQKAD RRSLLSEIQA LHAQMNGRKI TLKREQESEK PSQELLEYNI QQKQSQMLEM QVELSSMKDR ATELQEQLSS EKMVVAELKS ELAQTKLELE TTLKAQHKHL KELEAFRLEV KDKTDEVHLL NDTLASEQKK SRELQWALEK EKAKLGRSEE RDKEELEDLK FSLESQKQRN LQLNLLLEQQ KQLLNESQQK IESQRMLYDA QLSEEQGRNL ELQVLLESEK VRIREMSSTL DRERELHAQL QSSDGTGQSR PPLPSEDLLK ELQKQLEEKH SRIVELLNET EKYKLDSLQT RQQMEKDRQV HRKTLQTEQE ANTEGQKKMH ELQSKVEDLQ RQLEEKRQQV YKLDLEGQRL QGIMQEFQKQ ELEREEKRES RRILYQNLNE PTTWSLTSDR TRNWVLQQKI EGETKESNYA KLIEMNGGGT GCNHELEMIR QKLQCVASKL QVLPQKASER LQFETADDED FIWVQENIDE IILQLQKLTG QQGEEPSLVS PSTSCGSLTE RLLRQNAELT GHISQLTEEK NDLRNMVMKL EEQIRWYRQT GAGRDNSSRF SLNGGANIEA IIASEKEVWN REKLTLQKSL KRAEAEVYKL KAELRNDSLL QTLSPDSEHV TLKRIYGKYL RAESFRKALI YQKKYLLLLL GGFQECEDAT LALLARMGGQ PAFTDLEVIT NRPKGFTRFR SAVRVSIAIS RMKFLVRRWH RVTGSVSINI NRDGFGLNQG AEKTDSFYHS SGGLELYGEP RHTTYRSRSD LDYIRSPLPF QNRYPGTPAD FNPGSLACSQ LQNYDPDRAL TDYITRLEAL QRRLGTIQSG STTQFHAGMR R* | |||||||||||||
| Mutated AA sequence | MEDEERQKKL EAGKAKLAQF RQRKAQSDGQ SPSKKQKKKR KTSSSKHDVS AHHDLNIDQS QCNEMYINSS QRVESTVIPE STIMRTLHSG EITSHEQGFS VELESEISTT ADDCSSEVNG CSFVMRTGKP TNLLREEEFG VDDSYSEQGA QDSPTHLEMM ESELAGKQHE IEELNRELEE MRVTYGTEGL QQLQEFEAAI KQRDGIITQL TANLQQARRE KDETMREFLE LTEQSQKLQI QFQQLQASET LRNSTHSSTA ADLLQAKQQI LTHQQQLEEQ DHLLEDYQKK KEDFTMQISF LQEKIKVYEM EQDKKVENSN KEEIQEKETI IEELNTKIIE EEKKTLELKD KLTTADKLLG ELQEQIVQKN QEIKNMKLEL TNSKQKERQS SEEIKQLMGT VEELQKRNHK DSQFETDIVQ RMEQETQRKL EQLRAELDEM YGQQIVQMKQ ELIRQHMAQM EEMKTRHKGE MENALRSYSN ITVNEDQIKL MNVAINELNI KLQDTNSQKE KLKEELGLIL EEKCALQRQL EDLVEELSFS REQIQRARQT IAEQESKLNE AHKSLSTVED LKAEIVSASE SRKELELKHE AEVTNYKIKL EMLEKEKNAV LDRMAESQEA ELERLRTQLL FSHEEELSKL KEDLEIEHRI NIEKLKDNLG IHYKQQIDGL QNEMSQKIET MQFEKDNLIT KQNQLILEIS KLKDLQQSLV NSKSEEMTLQ INELQKEIEI LRQEEKEKGT LEQEVQELQL KTELLEKQMK EKENDLQEKF AQLEAENSIL KDEKKTLEDM LKIHTPVSQE ERLIFLDSIK SKSKDSVWEK EIEILIEENE DLKQQCIQLN EEIEKQRNTF SFAEKNFEVN YQELQEEYAC LLKVKDDLED SKNKQELEYK SKLKALNEEL HLQRINPTTV KMKSSVFDED KTFVAETLEM GEVVEKDTTE LMEKLEVTKR EKLELSQRLS DLSEQLKQKH GEISFLNEEV KSLKQEKEQV SLRCRELEII INHNRAENVQ SCDTQVSSLL DGVVTMTSRG AEGSVSKVNK SFGEESKIMV EDKVSFENMT VGEESKQEQL ILDHLPSVTK ESSLRATQPS ENDKLQKELN VLKSEQNDLR LQMEAQRICL SLVYSTHVDQ VREYMENEKD KALCSLKEEL IFAQEEKIKE LQKIHQLELQ TMKTQETGDE GKPLHLLIGK LQKAVSEECS YFLQTLCSVL GEYYTPALKC EVNAEDKENS GDYISENEDP ELQDYRYEVQ DFQENMHTLL NKVTEEYNKL LVLQTRLSKI WGQQTDGMKL EFGEENLPKE ETEFLSIHSQ MTNLEDIDVN HKSKLSSLQD LEKTKLEEQV QELESLISSL QQQLKETEQN YEAEIHCLQK RLQAVSESTV PPSLPVDSVV ITESDAQRTM YPGSCVKKNI DGTIEFSGEF GVKEETNIVK LLEKQYQEQL EEEVAKVIVS MSIAFAQQTE LSRISGGKEN TASSKQAHAV CQQEQHYFNE MKLSQDQIGF QTFETVDVKF KEEFKPLSKE LGEHGKEILL SNSDPHDIPE SKDCVLTISE EMFSKDKTFI VRQSIHDEIS VSSMDASRQL MLNEEQLEDM RQELVRQYQE HQQATELLRQ AHMRQMERQR EDQEQLQEEI KRLNRQLAQR SSIDNENLVS ERERVLLEEL EALKQLSLAG REKLCCELRN SSTQTQNGNE NQGEVEEQTF KEKELDRKPE DVPPEILSNE SLHGGIWPLR FWLPHWIISM ERSQYGTQTR KTVYALQKAN NRLLKILLEV VKTTAAVEET IGRHVLGILD RSSKSQSSAS LIWRSEAEAS VKSCVHEEHT RVTDESIPSY SGSDMPRNDI NMWSKVTEEG TELSQRLVRS GFAGTEIDPE NEELMLNISS RLQAAVEKLL EAISETSSQL EHAKVTQTEL MRESFRQKQE ATESLKCQEE LRERLHEESR AREQLAVELS KAEGVIDGYA DEKTLFERQI QEKTDIIDRL EQELLCASNR LQELEAEQQQ IQEERELLSR QKEAMKAEAG PVEQQLLQET EKLMKEKLEV QCQAEKVRDD LQKQVKALEI DVEEQVSRFI ELEQEKNTEL MDLRQQNQAL EKQLEKMRKF LDEQAIDREH ERDVFQQEIQ KLEQQLKVVP RFQPISEHQT REVEQLANHL KEKTDKCSEL LLSKEQLQRD IQERNEEIEK LEFRVRELEQ ALLVEDRKHF GAVEAKPELS LEVQLQAERD AIDRKEKEIT NLEEQLEQFR EELENKNEEV QQLHMQLEIQ KKESTTRLQE LEQENKLFKD DMEKLGLAIK ESDAMSTQDQ HVLFGKFAQI IQEKEVEIDQ LNEQVTKLQQ QLKITTDNKV IEEKNELIRD LETQIECLMS DQECVKRNRE EEIEQLNEVI EKLQQELANI GQKTSMNAHS LSEEADSLKH QLDVVIAEKL ALEQQVETAN EEMTFMKNVL KETNFKMNQL TQELFSLKRE RESVEKIQSI PENSVNVAID HLSKDKPELE VVLTEDALKS LENQTYFKSF EENGKGSIIN LETRLLQLES TVSAKDLELT QCYKQIKDMQ EQGQFETEML QKKIVNLQKI VEEKVAAALV SQIQLEAVQE YAKFCQDNQT ISSEPERTNI QNLNQLREDE LGSDISALTL RISELESQVV EMHTSLILEK EQVEIAEKNV LEKEKKLLEL QKLLEGNEKK QREKEKKRSP QDVEVLKTTT ELFHSNEESG FFNELEALRA ESVATKAELA SYKEKAEKLQ EELLVKETNM TSLQKDLSQV RDHLAEAKEK LSILEKEDET EVQESKKACM FEPLPIKLSK SIASQTDGTL KISSSNQTPQ ILVKNAGIQI NLQSECSSEE VTEIISQFTE KIEKMQELHA AEILDMESRH ISETETLKRE HYVAVQLLKE ECGTLKAVIQ CLRSKEGSSI PELAHSDAYQ TREICSSDSG SDWGQGIYLT HSQGFDIASE GRGEESESAT DSFPKKIKGL LRAVHNEGMQ VLSLTESPYS DGEDHSIQQV SEPWLEERKA YINTISSLKD LITKMQLQRE AEVYDSSQSH ESFSDWRGEL LLALQQVFLE ERSVLLAAFR TELTALGTTD AVGLLNCLEQ RIQEQGVEYQ AAMECLQKAD RRSLLSEIQA LHAQMNGRKI TLKREQESEK PSQELLEYNI QQKQSQMLEM QVELSSMKDR ATELQEQLSS EKMVVAELKS ELAQTKLELE TTLKAQHKHL KELEAFRLEV KDKTDEVHLL NDTLASEQKK SRELQWALEK EKAKLGRSEE RDKEELEDLK FSLESQKQRN LQLNLLLEQQ KQLLNESQQK IESQRMLYDA QLSEEQGRNL ELQVLLESEK VRIREMSSTL DRERELHAQL QSSDGTGQSR PPLPSEDLLK ELQKQLEEKH SRIVELLNET EKYKLDSLQT RQQMEKDRQV HRKTLQTEQE ANTEGQKKMH ELQSKVEDLQ RQLEEKRQQV YKLDLEGQRL QGIMQEFQKQ ELEREEKRES RRILYQNLNE PTTWSLTSDR TRNWVLQQKI EGETKESNYA KLIEMNGGGT GCNHELEMIR QKLQCVASKL QVLPQKASER LQFETADDED FIWVQENIDE IILQLQKLTG QQGEEPSLVS PSTSCGSLTE RLLRQNAELT GHISQLTEEK NDLRNMVMKL EEQIRWYRQT GAGRDNSSRF SLNGGANIEA IIASEKEVWN REKLTLQKSL KRAEAEVYKL KAELRNDSLL QTLSPDSEHV TLKRIYGKYL RAESFRKALI YQKKYLLLLL GGFQECEVAT LALLARMGGQ PAFTDLEVIT NRPKGFTRFR SAVRVSIAIS RMKFLVRRWH RVTGSVSINI NRDGFGLNQG AEKTDSFYHS SGGLELYGEP RHTTYRSRSD LDYIRSPLPF QNRYPGTPAD FNPGSLACSQ LQNYDPDRAL TDYITRLEAL QRRLGTIQSG STTQFHAGMR R* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 11796 / 11796 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 3932 / 3932 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 11796 / 11796 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 1 / 1 | |||||||||||||
| Last intron/exon boundary | 11758 | |||||||||||||
| Theoretical NMD boundary in CDS | 11707 | |||||||||||||
| Length of CDS | 11796 | |||||||||||||
| Coding sequence (CDS) position | 11273 | |||||||||||||
| cDNA position | 11273 | |||||||||||||
| gDNA position | 161858 | |||||||||||||
| Chromosomal position | 92102697 | |||||||||||||
| 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 | Chr7:92102697A>T (GRCh38) | |||||||||||||
| Gene symbol | AKAP9 | |||||||||||||
| Gene constraints | LOEUF: 0.67, LOF (oe): 0.60, misssense (oe): 0.91, synonymous (oe): 0.94 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000680766.1 | |||||||||||||
| Genbank transcript ID | NM_147185 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | AKAP9_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.11177A>T g.161858A>T | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features |
| |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 7 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | TGGGTTCCAGGAATGTGAAGATGCCACCTTGGCCCTGCTTG | |||||||||||||
| Altered gDNA sequence snippet | TGGGTTCCAGGAATGTGAAGTTGCCACCTTGGCCCTGCTTG | |||||||||||||
| Original cDNA sequence snippet | TGGGTTCCAGGAATGTGAAGATGCCACCTTGGCCCTGCTTG | |||||||||||||
| Altered cDNA sequence snippet | TGGGTTCCAGGAATGTGAAGTTGCCACCTTGGCCCTGCTTG | |||||||||||||
| Wildtype AA sequence | MEDEERQKKL EAGKAKLAQF RQRKAQSDGQ SPSKKQKKKR KTSSSKHDVS AHHDLNIDQS QCNEMYINSS QRVESTVIPE STIMRTLHSG EITSHEQGFS VELESEISTT ADDCSSEVNG CSFVMRTGKP TNLLREEEFG VDDSYSEQGA QDSPTHLEMM ESELAGKQHE IEELNRELEE MRVTYGTEGL QQLQEFEAAI KQRDGIITQL TANLQQARRE KDETMREFLE LTEQSQKLQI QFQQLQASET LRNSTHSSTA ADLLQAKQQI LTHQQQLEEQ DHLLEDYQKK KEDFTMQISF LQEKIKVYEM EQDKKVENSN KEEIQEKETI IEELNTKIIE EEKKTLELKD KLTTADKLLG ELQEQIVQKN QEIKNMKLEL TNSKQKERQS SEEIKQLMGT VEELQKRNHK DSQFETDIVQ RMEQETQRKL EQLRAELDEM YGQQIVQMKQ ELIRQHMAQM EEMKTRHKGE MENALRSYSN ITVNEDQIKL MNVAINELNI KLQDTNSQKE KLKEELGLIL EEKCALQRQL EDLVEELSFS REQIQRARQT IAEQESKLNE AHKSLSTVED LKAEIVSASE SRKELELKHE AEVTNYKIKL EMLEKEKNAV LDRMAESQEA ELERLRTQLL FSHEEELSKL KEDLEIEHRI NIEKLKDNLG IHYKQQIDGL QNEMSQKIET MQFEKDNLIT KQNQLILEIS KLKDLQQSLV NSKSEEMTLQ INELQKEIEI LRQEEKEKGT LEQEVQELQL KTELLEKQMK EKENDLQEKF AQLEAENSIL KDEKKTLEDM LKIHTPVSQE ERLIFLDSIK SKSKDSVWEK EIEILIEENE DLKQQCIQLN EEIEKQRNTF SFAEKNFEVN YQELQEEYAC LLKVKDDLED SKNKQELEYK SKLKALNEEL HLQRINPTTV KMKSSVFDED KTFVAETLEM GEVVEKDTTE LMEKLEVTKR EKLELSQRLS DLSEQLKQKH GEISFLNEEV KSLKQEKEQV SLRCRELEII INHNRAENVQ SCDTQVSSLL DGVVTMTSRG AEGSVSKVNK SFGEESKIMV EDKVSFENMT VGEESKQEQL ILDHLPSVTK ESSLRATQPS ENDKLQKELN VLKSEQNDLR LQMEAQRICL SLVYSTHVDQ VREYMENEKD KALCSLKEEL IFAQEEKIKE LQKIHQLELQ TMKTQETGDE GKPLHLLIGK LQKAVSEECS YFLQTLCSVL GEYYTPALKC EVNAEDKENS GDYISENEDP ELQDYRYEVQ DFQENMHTLL NKVTEEYNKL LVLQTRLSKI WGQQTDGMKL EFGEENLPKE ETEFLSIHSQ MTNLEDIDVN HKSKLSSLQD LEKTKLEEQV QELESLISSL QQQLKETEQN YEAEIHCLQK RLQAVSESTV PPSLPVDSVV ITESDAQRTM YPGSCVKKNI DGTIEFSGEF GVKEETNIVK LLEKQYQEQL EEEVAKVIVS MSIAFAQQTE LSRISGGKEN TASSKQAHAV CQQEQHYFNE MKLSQDQIGF QTFETVDVKF KEEFKPLSKE LGEHGKEILL SNSDPHDIPE SKDCVLTISE EMFSKDKTFI VRQSIHDEIS VSSMDASRQL MLNEEQLEDM RQELVRQYQE HQQATELLRQ AHMRQMERQR EDQEQLQEEI KRLNRQLAQR SSIDNENLVS ERERVLLEEL EALKQLSLAG REKLCCELRN SSTQTQNGNE NQGEVEEQTF KEKELDRKPE DVPPEILSNE RYALQKANNR LLKILLEVVK TTAAVEETIG RHVLGILDRS SKSQSSASLI WRSEAEASVK SCVHEEHTRV TDESIPSYSG SDMPRNDINM WSKVTEEGTE LSQRLVRSGF AGTEIDPENE ELMLNISSRL QAAVEKLLEA ISETSSQLEH AKVTQTELMR ESFRQKQEAT ESLKCQEELR ERLHEESRAR EQLAVELSKA EGVIDGYADE KTLFERQIQE KTDIIDRLEQ ELLCASNRLQ ELEAEQQQIQ EERELLSRQK EAMKAEAGPV EQQLLQETEK LMKEKLEVQC QAEKVRDDLQ KQVKALEIDV EEQVSRFIEL EQEKNTELMD LRQQNQALEK QLEKMRKFLD EQAIDREHER DVFQQEIQKL EQQLKVVPRF QPISEHQTRE VEQLANHLKE KTDKCSELLL SKEQLQRDIQ ERNEEIEKLE FRVRELEQAL LVEDRKHFGA VEAKPELSLE VQLQAERDAI DRKEKEITNL EEQLEQFREE LENKNEEVQQ LHMQLEIQKK ESTTRLQELE QENKLFKDDM EKLGLAIKES DAMSTQDQHV LFGKFAQIIQ EKEVEIDQLN EQVTKLQQQL KITTDNKVIE EKNELIRDLE TQIECLMSDQ ECVKRNREEE IEQLNEVIEK LQQELANIGQ KTSMNAHSLS EEADSLKHQL DVVIAEKLAL EQQVETANEE MTFMKNVLKE TNFKMNQLTQ ELFSLKRERE SVEKIQSIPE NSVNVAIDHL SKDKPELEVV LTEDALKSLE NQTYFKSFEE NGKGSIINLE TRLLQLESTV SAKDLELTQC YKQIKDMQEQ GQFETEMLQK KIVNLQKIVE EKVAAALVSQ IQLEAVQEYA KFCQDNQTIS SEPERTNIQN LNQLREDELG SDISALTLRI SELESQVVEM HTSLILEKEQ VEIAEKNVLE KEKKLLELQK LLEGNEKKQR EKEKKRSPQD VEVLKTTTEL FHSNEESGFF NELEALRAES VATKAELASY KEKAEKLQEE LLVKETNMTS LQKDLSQVRD HLAEAKEKLS ILEKEDETEV QESKKACMFE PLPIKLSKSI ASQTDGTLKI SSSNQTPQIL VKNAGIQINL QSECSSEEVT EIISQFTEKI EKMQELHAAE ILDMESRHIS ETETLKREHY VAVQLLKEEC GTLKAVIQCL RSKEGSSIPE LAHSDAYQTR EICSSDSGSD WGQGIYLTHS QGFDIASEGR GEESESATDS FPKKIKGLLR AVHNEGMQVL SLTESPYSDG EDHSIQQVSE PWLEERKAYI NTISSLKDLI TKMQLQREAE VYDSSQSHES FSDWRGELLL ALQQVFLEER SVLLAAFRTE LTALGTTDAV GLLNCLEQRI QEQGVEYQAA MECLQKADRR SLLSEIQALH AQMNGRKITL KREQESEKPS QELLEYNIQQ KQSQMLEMQV ELSSMKDRAT ELQEQLSSEK MVVAELKSEL AQTKLELETT LKAQHKHLKE LEAFRLEVKD KTDEVHLLND TLASEQKKSR ELQWALEKEK AKLGRSEERD KEELEDLKFS LESQKQRNLQ LNLLLEQQKQ LLNESQQKIE SQRMLYDAQL SEEQGRNLEL QVLLESEKVR IREMSSTLDR ERELHAQLQS SDGTGQSRPP LPSEDLLKEL QKQLEEKHSR IVELLNETEK YKLDSLQTRQ QMEKDRQVHR KTLQTEQEAN TEGQKKMHEL QSKVEDLQRQ LEEKRQQVYK LDLEGQRLQG IMQEFQKQEL EREEKRESRR ILYQNLNEPT TWSLTSDRTR NWVLQQKIEG ETKESNYAKL IEMNGGGTGC NHELEMIRQK LQCVASKLQV LPQKASERLQ FETADDEDFI WVQENIDEII LQLQKLTGQQ GEEPSLVSPS TSCGSLTERL LRQNAELTGH ISQLTEEKND LRNMVMKLEE QIRWYRQTGA GRDNSSRFSL NGGANIEAII ASEKEVWNRE KLTLQKSLKR AEAEVYKLKA ELRNDSLLQT LSPDSEHVTL KRIYGKYLRA ESFRKALIYQ KKYLLLLLGG FQECEDATLA LLARMGGQPA FTDLEVITNR PKGFTRFRSA VRVSIAISRM KFLVRRWHRV TGSVSININR DGFGLNQGAE KTDSFYHSSG GLELYGEPRH TTYRSRSDLD YIRSPLPFQN RYPGTPADFN PGSLACSQLQ NYDPDRALTD YITRLEALQR RLGTIQSGST TQFHAGMRR* | |||||||||||||
| Mutated AA sequence | MEDEERQKKL EAGKAKLAQF RQRKAQSDGQ SPSKKQKKKR KTSSSKHDVS AHHDLNIDQS QCNEMYINSS QRVESTVIPE STIMRTLHSG EITSHEQGFS VELESEISTT ADDCSSEVNG CSFVMRTGKP TNLLREEEFG VDDSYSEQGA QDSPTHLEMM ESELAGKQHE IEELNRELEE MRVTYGTEGL QQLQEFEAAI KQRDGIITQL TANLQQARRE KDETMREFLE LTEQSQKLQI QFQQLQASET LRNSTHSSTA ADLLQAKQQI LTHQQQLEEQ DHLLEDYQKK KEDFTMQISF LQEKIKVYEM EQDKKVENSN KEEIQEKETI IEELNTKIIE EEKKTLELKD KLTTADKLLG ELQEQIVQKN QEIKNMKLEL TNSKQKERQS SEEIKQLMGT VEELQKRNHK DSQFETDIVQ RMEQETQRKL EQLRAELDEM YGQQIVQMKQ ELIRQHMAQM EEMKTRHKGE MENALRSYSN ITVNEDQIKL MNVAINELNI KLQDTNSQKE KLKEELGLIL EEKCALQRQL EDLVEELSFS REQIQRARQT IAEQESKLNE AHKSLSTVED LKAEIVSASE SRKELELKHE AEVTNYKIKL EMLEKEKNAV LDRMAESQEA ELERLRTQLL FSHEEELSKL KEDLEIEHRI NIEKLKDNLG IHYKQQIDGL QNEMSQKIET MQFEKDNLIT KQNQLILEIS KLKDLQQSLV NSKSEEMTLQ INELQKEIEI LRQEEKEKGT LEQEVQELQL KTELLEKQMK EKENDLQEKF AQLEAENSIL KDEKKTLEDM LKIHTPVSQE ERLIFLDSIK SKSKDSVWEK EIEILIEENE DLKQQCIQLN EEIEKQRNTF SFAEKNFEVN YQELQEEYAC LLKVKDDLED SKNKQELEYK SKLKALNEEL HLQRINPTTV KMKSSVFDED KTFVAETLEM GEVVEKDTTE LMEKLEVTKR EKLELSQRLS DLSEQLKQKH GEISFLNEEV KSLKQEKEQV SLRCRELEII INHNRAENVQ SCDTQVSSLL DGVVTMTSRG AEGSVSKVNK SFGEESKIMV EDKVSFENMT VGEESKQEQL ILDHLPSVTK ESSLRATQPS ENDKLQKELN VLKSEQNDLR LQMEAQRICL SLVYSTHVDQ VREYMENEKD KALCSLKEEL IFAQEEKIKE LQKIHQLELQ TMKTQETGDE GKPLHLLIGK LQKAVSEECS YFLQTLCSVL GEYYTPALKC EVNAEDKENS GDYISENEDP ELQDYRYEVQ DFQENMHTLL NKVTEEYNKL LVLQTRLSKI WGQQTDGMKL EFGEENLPKE ETEFLSIHSQ MTNLEDIDVN HKSKLSSLQD LEKTKLEEQV QELESLISSL QQQLKETEQN YEAEIHCLQK RLQAVSESTV PPSLPVDSVV ITESDAQRTM YPGSCVKKNI DGTIEFSGEF GVKEETNIVK LLEKQYQEQL EEEVAKVIVS MSIAFAQQTE LSRISGGKEN TASSKQAHAV CQQEQHYFNE MKLSQDQIGF QTFETVDVKF KEEFKPLSKE LGEHGKEILL SNSDPHDIPE SKDCVLTISE EMFSKDKTFI VRQSIHDEIS VSSMDASRQL MLNEEQLEDM RQELVRQYQE HQQATELLRQ AHMRQMERQR EDQEQLQEEI KRLNRQLAQR SSIDNENLVS ERERVLLEEL EALKQLSLAG REKLCCELRN SSTQTQNGNE NQGEVEEQTF KEKELDRKPE DVPPEILSNE RYALQKANNR LLKILLEVVK TTAAVEETIG RHVLGILDRS SKSQSSASLI WRSEAEASVK SCVHEEHTRV TDESIPSYSG SDMPRNDINM WSKVTEEGTE LSQRLVRSGF AGTEIDPENE ELMLNISSRL QAAVEKLLEA ISETSSQLEH AKVTQTELMR ESFRQKQEAT ESLKCQEELR ERLHEESRAR EQLAVELSKA EGVIDGYADE KTLFERQIQE KTDIIDRLEQ ELLCASNRLQ ELEAEQQQIQ EERELLSRQK EAMKAEAGPV EQQLLQETEK LMKEKLEVQC QAEKVRDDLQ KQVKALEIDV EEQVSRFIEL EQEKNTELMD LRQQNQALEK QLEKMRKFLD EQAIDREHER DVFQQEIQKL EQQLKVVPRF QPISEHQTRE VEQLANHLKE KTDKCSELLL SKEQLQRDIQ ERNEEIEKLE FRVRELEQAL LVEDRKHFGA VEAKPELSLE VQLQAERDAI DRKEKEITNL EEQLEQFREE LENKNEEVQQ LHMQLEIQKK ESTTRLQELE QENKLFKDDM EKLGLAIKES DAMSTQDQHV LFGKFAQIIQ EKEVEIDQLN EQVTKLQQQL KITTDNKVIE EKNELIRDLE TQIECLMSDQ ECVKRNREEE IEQLNEVIEK LQQELANIGQ KTSMNAHSLS EEADSLKHQL DVVIAEKLAL EQQVETANEE MTFMKNVLKE TNFKMNQLTQ ELFSLKRERE SVEKIQSIPE NSVNVAIDHL SKDKPELEVV LTEDALKSLE NQTYFKSFEE NGKGSIINLE TRLLQLESTV SAKDLELTQC YKQIKDMQEQ GQFETEMLQK KIVNLQKIVE EKVAAALVSQ IQLEAVQEYA KFCQDNQTIS SEPERTNIQN LNQLREDELG SDISALTLRI SELESQVVEM HTSLILEKEQ VEIAEKNVLE KEKKLLELQK LLEGNEKKQR EKEKKRSPQD VEVLKTTTEL FHSNEESGFF NELEALRAES VATKAELASY KEKAEKLQEE LLVKETNMTS LQKDLSQVRD HLAEAKEKLS ILEKEDETEV QESKKACMFE PLPIKLSKSI ASQTDGTLKI SSSNQTPQIL VKNAGIQINL QSECSSEEVT EIISQFTEKI EKMQELHAAE ILDMESRHIS ETETLKREHY VAVQLLKEEC GTLKAVIQCL RSKEGSSIPE LAHSDAYQTR EICSSDSGSD WGQGIYLTHS QGFDIASEGR GEESESATDS FPKKIKGLLR AVHNEGMQVL SLTESPYSDG EDHSIQQVSE PWLEERKAYI NTISSLKDLI TKMQLQREAE VYDSSQSHES FSDWRGELLL ALQQVFLEER SVLLAAFRTE LTALGTTDAV GLLNCLEQRI QEQGVEYQAA MECLQKADRR SLLSEIQALH AQMNGRKITL KREQESEKPS QELLEYNIQQ KQSQMLEMQV ELSSMKDRAT ELQEQLSSEK MVVAELKSEL AQTKLELETT LKAQHKHLKE LEAFRLEVKD KTDEVHLLND TLASEQKKSR ELQWALEKEK AKLGRSEERD KEELEDLKFS LESQKQRNLQ LNLLLEQQKQ LLNESQQKIE SQRMLYDAQL SEEQGRNLEL QVLLESEKVR IREMSSTLDR ERELHAQLQS SDGTGQSRPP LPSEDLLKEL QKQLEEKHSR IVELLNETEK YKLDSLQTRQ QMEKDRQVHR KTLQTEQEAN TEGQKKMHEL QSKVEDLQRQ LEEKRQQVYK LDLEGQRLQG IMQEFQKQEL EREEKRESRR ILYQNLNEPT TWSLTSDRTR NWVLQQKIEG ETKESNYAKL IEMNGGGTGC NHELEMIRQK LQCVASKLQV LPQKASERLQ FETADDEDFI WVQENIDEII LQLQKLTGQQ GEEPSLVSPS TSCGSLTERL LRQNAELTGH ISQLTEEKND LRNMVMKLEE QIRWYRQTGA GRDNSSRFSL NGGANIEAII ASEKEVWNRE KLTLQKSLKR AEAEVYKLKA ELRNDSLLQT LSPDSEHVTL KRIYGKYLRA ESFRKALIYQ KKYLLLLLGG FQECEVATLA LLARMGGQPA FTDLEVITNR PKGFTRFRSA VRVSIAISRM KFLVRRWHRV TGSVSININR DGFGLNQGAE KTDSFYHSSG GLELYGEPRH TTYRSRSDLD YIRSPLPFQN RYPGTPADFN PGSLACSQLQ NYDPDRALTD YITRLEALQR RLGTIQSGST TQFHAGMRR* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 11700 / 11700 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 3900 / 3900 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 11922 / 11922 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 223 / 223 | |||||||||||||
| Last intron/exon boundary | 11884 | |||||||||||||
| Theoretical NMD boundary in CDS | 11611 | |||||||||||||
| Length of CDS | 11700 | |||||||||||||
| Coding sequence (CDS) position | 11177 | |||||||||||||
| cDNA position | 11399 | |||||||||||||
| gDNA position | 161858 | |||||||||||||
| Chromosomal position | 92102697 | |||||||||||||
| 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 | Chr7:92102697A>T (GRCh38) | |||||||||||||
| Gene symbol | AKAP9 | |||||||||||||
| Gene constraints | LOEUF: 0.67, LOF (oe): 0.60, misssense (oe): 0.91, synonymous (oe): 0.94 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000681722.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.11177A>T g.161858A>T | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 7 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | TGGGTTCCAGGAATGTGAAGATGCCACCTTGGCCCTGCTTG | |||||||||||||
| Altered gDNA sequence snippet | TGGGTTCCAGGAATGTGAAGTTGCCACCTTGGCCCTGCTTG | |||||||||||||
| Original cDNA sequence snippet | TGGGTTCCAGGAATGTGAAGATGCCACCTTGGCCCTGCTTG | |||||||||||||
| Altered cDNA sequence snippet | TGGGTTCCAGGAATGTGAAGTTGCCACCTTGGCCCTGCTTG | |||||||||||||
| Wildtype AA sequence | MEDEERQKKL EAGKAKLAQF RQRKAQSDGQ SPSKKQKKKR KTSSSKHDVS AHHDLNIDQS QCNEMYINSS QRVESTVIPE STIMRTLHSG EITSHEQGFS VELESEISTT ADDCSSEVNG CSFVMRTGKP TNLLREEEFG VDDSYSEQGA QDSPTHLEMM ESELAGKQHE IEELNRELEE MRVTYGTEGL QQLQEFEAAI KQRDGIITQL TANLQQARRE KDETMREFLE LTEQSQKLQI QFQQLQASET LRNSTHSSTA ADLLQAKQQI LTHQQQLEEQ DHLLEDYQKK KEDFTMQISF LQEKIKVYEM EQDKKVENSN KEEIQEKETI IEELNTKIIE EEKKTLELKD KLTTADKLLG ELQEQIVQKN QEIKNMKLEL TNSKQKERQS SEEIKQLMGT VEELQKRNHK DSQFETDIVQ RMEQETQRKL EQLRAELDEM YGQQIVQMKQ ELIRQHMAQM EEMKTRHKGE MENALRSYSN ITVNEDQIKL MNVAINELNI KLQDTNSQKE KLKEELGLIL EEKCALQRQL EDLVEELSFS REQIQRARQT IAEQESKLNE AHKSLSTVED LKAEIVSASE SRKELELKHE AEVTNYKIKL EMLEKEKNAV LDRMAESQEA ELERLRTQLL FSHEEELSKL KEDLEIEHRI NIEKLKDNLG IHYKQQIDGL QNEMSQKIET MQFEKDNLIT KQNQLILEIS KLKDLQQSLV NSKSEEMTLQ INELQKEIEI LRQEEKEKGT LEQEVQELQL KTELLEKQMK EKENDLQEKF AQLEAENSIL KDEKKTLEDM LKIHTPVSQE ERLIFLDSIK SKSKDSVWEK EIEILIEENE DLKQQCIQLN EEIEKQRNTF SFAEKNFEVN YQELQEEYAC LLKVKDDLED SKNKQELEYK SKLKALNEEL HLQRINPTTV KMKSSVFDED KTFVAETLEM GEVVEKDTTE LMEKLEVTKR EKLELSQRLS DLSEQLKQKH GEISFLNEEV KSLKQEKEQV SLRCRELEII INHNRAENVQ SCDTQVSSLL DGVVTMTSRG AEGSVSKVNK SFGEESKIMV EDKVSFENMT VGEESKQEQL ILDHLPSVTK ESSLRATQPS ENDKLQKELN VLKSEQNDLR LQMEAQRICL SLVYSTHVDQ VREYMENEKD KALCSLKEEL IFAQEEKIKE LQKIHQLELQ TMKTQETGDE GKPLHLLIGK LQKAVSEECS YFLQTLCSVL GEYYTPALKC EVNAEDKENS GDYISENEDP ELQDYRYEVQ DFQENMHTLL NKVTEEYNKL LVLQTRLSKI WGQQTDGMKL EFGEENLPKE ETEFLSIHSQ MTNLEDIDVN HKSKLSSLQD LEKTKLEEQV QELESLISSL QQQLKETEQN YEAEIHCLQK RLQAVSESTV PPSLPVDSVV ITESDAQRTM YPGSCVKKNI DGTIEFSGEF GVKEETNIVK LLEKQYQEQL EEEVAKVIVS MSIAFAQQTE LSRISGGKEN TASSKQAHAV CQQEQHYFNE MKLSQDQIGF QTFETVDVKF KEEFKPLSKE LGEHGKEILL SNSDPHDIPE SKDCVLTISE EMFSKDKTFI VRQSIHDEIS VSSMDASRQL MLNEEQLEDM RQELVRQYQE HQQATELLRQ AHMRQMERQR EDQEQLQEEI KRLNRQLAQR SSIDNENLVS ERERVLLEEL EALKQLSLAG REKLCCELRN SSTQTQNGNE NQGEVEEQTF KEKELDRKPE DVPPEILSNE RYALQKANNR LLKILLEVVK TTAAVEETIG RHVLGILDRS SKSQSSASLI WRSEAEASVK SCVHEEHTRV TDESIPSYSG SDMPRNDINM WSKVTEEGTE LSQRLVRSGF AGTEIDPENE ELMLNISSRL QAAVEKLLEA ISETSSQLEH AKVTQTELMR ESFRQKQEAT ESLKCQEELR ERLHEESRAR EQLAVELSKA EGVIDGYADE KTLFERQIQE KTDIIDRLEQ ELLCASNRLQ ELEAEQQQIQ EERELLSRQK EAMKAEAGPV EQQLLQETEK LMKEKLEVQC QAEKVRDDLQ KQVKALEIDV EEQVSRFIEL EQEKNTELMD LRQQNQALEK QLEKMRKFLD EQAIDREHER DVFQQEIQKL EQQLKVVPRF QPISEHQTRE VEQLANHLKE KTDKCSELLL SKEQLQRDIQ ERNEEIEKLE FRVRELEQAL LVEDRKHFGA VEAKPELSLE VQLQAERDAI DRKEKEITNL EEQLEQFREE LENKNEEVQQ LHMQLEIQKK ESTTRLQELE QENKLFKDDM EKLGLAIKES DAMSTQDQHV LFGKFAQIIQ EKEVEIDQLN EQVTKLQQQL KITTDNKVIE EKNELIRDLE TQIECLMSDQ ECVKRNREEE IEQLNEVIEK LQQELANIGQ KTSMNAHSLS EEADSLKHQL DVVIAEKLAL EQQVETANEE MTFMKNVLKE TNFKMNQLTQ ELFSLKRERE SVEKIQSIPE NSVNVAIDHL SKDKPELEVV LTEDALKSLE NQTYFKSFEE NGKGSIINLE TRLLQLESTV SAKDLELTQC YKQIKDMQEQ GQFETEMLQK KIVNLQKIVE EKVAAALVSQ IQLEAVQEYA KFCQDNQTIS SEPERTNIQN LNQLREDELG SDISALTLRI SELESQVVEM HTSLILEKEQ VEIAEKNVLE KEKKLLELQK LLEGNEKKQR EKEKKRSPQD VEVLKTTTEL FHSNEESGFF NELEALRAES VATKAELASY KEKAEKLQEE LLVKETNMTS LQKDLSQVRD HLAEAKEKLS ILEKEDETEV QESKKACMFE PLPIKLSKSI ASQTDGTLKI SSSNQTPQIL VKNAGIQINL QSECSSEEVT EIISQFTEKI EKMQELHAAE ILDMESRHIS ETETLKREHY VAVQLLKEEC GTLKAVIQCL RSKEGSSIPE LAHSDAYQTR EICSSDSGSD WGQGIYLTHS QGFDIASEGR GEESESATDS FPKKIKGLLR AVHNEGMQVL SLTESPYSDG EDHSIQQVSE PWLEERKAYI NTISSLKDLI TKMQLQREAE VYDSSQSHES FSDWRGELLL ALQQVFLEER SVLLAAFRTE LTALGTTDAV GLLNCLEQRI QEQGVEYQAA MECLQKADRR SLLSEIQALH AQMNGRKITL KREQESEKPS QELLEYNIQQ KQSQMLEMQV ELSSMKDRAT ELQEQLSSEK MVVAELKSEL AQTKLELETT LKAQHKHLKE LEAFRLEVKD KTDEVHLLND TLASEQKKSR ELQWALEKEK AKLGRSEERD KEELEDLKFS LESQKQRNLQ LNLLLEQQKQ LLNESQQKIE SQRMLYDAQL SEEQGRNLEL QVLLESEKVR IREMSSTLDR ERELHAQLQS SDGTGQSRPP LPSEDLLKEL QKQLEEKHSR IVELLNETEK YKLDSLQTRQ QMEKDRQVHR KTLQTEQEAN TEGQKKMHEL QSKVEDLQRQ LEEKRQQVYK LDLEGQRLQG IMQEFQKQEL EREEKRESRR ILYQNLNEPT TWSLTSDRTR NWVLQQKIEG ETKESNYAKL IEMNGGGTGC NHELEMIRQK LQCVASKLQV LPQKASERLQ FETADDEDFI WVQENIDEII LQLQKLTGQQ GEEPSLVSPS TSCGSLTERL LRQNAELTGH ISQLTEEKND LRNMVMKLEE QIRWYRQTGA GRDNSSRFSL NGGANIEAII ASEKEVWNRE KLTLQKSLKR AEAEVYKLKA ELRNDSLLQT LSPDSEHVTL KRIYGKYLRA ESFRKALIYQ KKYLLLLLGG FQECEDATLA LLARMGGQPA FTDLEVITNR PKGFTRFRSA VRVSIAISRM KFLVRRWHRV TGSVSININR DGFGLNQGAE KTDSFYHSSG GLELYGEPRH TTYRSRSDLD YIRSPLPFQN RYPGTPADFN PGSLACSQLQ NYDPDRALTD YITRLEALQR RLGTIQSGAL SLTTSWQHHS ARPTAPLSLK FFHTH* | |||||||||||||
| Mutated AA sequence | MEDEERQKKL EAGKAKLAQF RQRKAQSDGQ SPSKKQKKKR KTSSSKHDVS AHHDLNIDQS QCNEMYINSS QRVESTVIPE STIMRTLHSG EITSHEQGFS VELESEISTT ADDCSSEVNG CSFVMRTGKP TNLLREEEFG VDDSYSEQGA QDSPTHLEMM ESELAGKQHE IEELNRELEE MRVTYGTEGL QQLQEFEAAI KQRDGIITQL TANLQQARRE KDETMREFLE LTEQSQKLQI QFQQLQASET LRNSTHSSTA ADLLQAKQQI LTHQQQLEEQ DHLLEDYQKK KEDFTMQISF LQEKIKVYEM EQDKKVENSN KEEIQEKETI IEELNTKIIE EEKKTLELKD KLTTADKLLG ELQEQIVQKN QEIKNMKLEL TNSKQKERQS SEEIKQLMGT VEELQKRNHK DSQFETDIVQ RMEQETQRKL EQLRAELDEM YGQQIVQMKQ ELIRQHMAQM EEMKTRHKGE MENALRSYSN ITVNEDQIKL MNVAINELNI KLQDTNSQKE KLKEELGLIL EEKCALQRQL EDLVEELSFS REQIQRARQT IAEQESKLNE AHKSLSTVED LKAEIVSASE SRKELELKHE AEVTNYKIKL EMLEKEKNAV LDRMAESQEA ELERLRTQLL FSHEEELSKL KEDLEIEHRI NIEKLKDNLG IHYKQQIDGL QNEMSQKIET MQFEKDNLIT KQNQLILEIS KLKDLQQSLV NSKSEEMTLQ INELQKEIEI LRQEEKEKGT LEQEVQELQL KTELLEKQMK EKENDLQEKF AQLEAENSIL KDEKKTLEDM LKIHTPVSQE ERLIFLDSIK SKSKDSVWEK EIEILIEENE DLKQQCIQLN EEIEKQRNTF SFAEKNFEVN YQELQEEYAC LLKVKDDLED SKNKQELEYK SKLKALNEEL HLQRINPTTV KMKSSVFDED KTFVAETLEM GEVVEKDTTE LMEKLEVTKR EKLELSQRLS DLSEQLKQKH GEISFLNEEV KSLKQEKEQV SLRCRELEII INHNRAENVQ SCDTQVSSLL DGVVTMTSRG AEGSVSKVNK SFGEESKIMV EDKVSFENMT VGEESKQEQL ILDHLPSVTK ESSLRATQPS ENDKLQKELN VLKSEQNDLR LQMEAQRICL SLVYSTHVDQ VREYMENEKD KALCSLKEEL IFAQEEKIKE LQKIHQLELQ TMKTQETGDE GKPLHLLIGK LQKAVSEECS YFLQTLCSVL GEYYTPALKC EVNAEDKENS GDYISENEDP ELQDYRYEVQ DFQENMHTLL NKVTEEYNKL LVLQTRLSKI WGQQTDGMKL EFGEENLPKE ETEFLSIHSQ MTNLEDIDVN HKSKLSSLQD LEKTKLEEQV QELESLISSL QQQLKETEQN YEAEIHCLQK RLQAVSESTV PPSLPVDSVV ITESDAQRTM YPGSCVKKNI DGTIEFSGEF GVKEETNIVK LLEKQYQEQL EEEVAKVIVS MSIAFAQQTE LSRISGGKEN TASSKQAHAV CQQEQHYFNE MKLSQDQIGF QTFETVDVKF KEEFKPLSKE LGEHGKEILL SNSDPHDIPE SKDCVLTISE EMFSKDKTFI VRQSIHDEIS VSSMDASRQL MLNEEQLEDM RQELVRQYQE HQQATELLRQ AHMRQMERQR EDQEQLQEEI KRLNRQLAQR SSIDNENLVS ERERVLLEEL EALKQLSLAG REKLCCELRN SSTQTQNGNE NQGEVEEQTF KEKELDRKPE DVPPEILSNE RYALQKANNR LLKILLEVVK TTAAVEETIG RHVLGILDRS SKSQSSASLI WRSEAEASVK SCVHEEHTRV TDESIPSYSG SDMPRNDINM WSKVTEEGTE LSQRLVRSGF AGTEIDPENE ELMLNISSRL QAAVEKLLEA ISETSSQLEH AKVTQTELMR ESFRQKQEAT ESLKCQEELR ERLHEESRAR EQLAVELSKA EGVIDGYADE KTLFERQIQE KTDIIDRLEQ ELLCASNRLQ ELEAEQQQIQ EERELLSRQK EAMKAEAGPV EQQLLQETEK LMKEKLEVQC QAEKVRDDLQ KQVKALEIDV EEQVSRFIEL EQEKNTELMD LRQQNQALEK QLEKMRKFLD EQAIDREHER DVFQQEIQKL EQQLKVVPRF QPISEHQTRE VEQLANHLKE KTDKCSELLL SKEQLQRDIQ ERNEEIEKLE FRVRELEQAL LVEDRKHFGA VEAKPELSLE VQLQAERDAI DRKEKEITNL EEQLEQFREE LENKNEEVQQ LHMQLEIQKK ESTTRLQELE QENKLFKDDM EKLGLAIKES DAMSTQDQHV LFGKFAQIIQ EKEVEIDQLN EQVTKLQQQL KITTDNKVIE EKNELIRDLE TQIECLMSDQ ECVKRNREEE IEQLNEVIEK LQQELANIGQ KTSMNAHSLS EEADSLKHQL DVVIAEKLAL EQQVETANEE MTFMKNVLKE TNFKMNQLTQ ELFSLKRERE SVEKIQSIPE NSVNVAIDHL SKDKPELEVV LTEDALKSLE NQTYFKSFEE NGKGSIINLE TRLLQLESTV SAKDLELTQC YKQIKDMQEQ GQFETEMLQK KIVNLQKIVE EKVAAALVSQ IQLEAVQEYA KFCQDNQTIS SEPERTNIQN LNQLREDELG SDISALTLRI SELESQVVEM HTSLILEKEQ VEIAEKNVLE KEKKLLELQK LLEGNEKKQR EKEKKRSPQD VEVLKTTTEL FHSNEESGFF NELEALRAES VATKAELASY KEKAEKLQEE LLVKETNMTS LQKDLSQVRD HLAEAKEKLS ILEKEDETEV QESKKACMFE PLPIKLSKSI ASQTDGTLKI SSSNQTPQIL VKNAGIQINL QSECSSEEVT EIISQFTEKI EKMQELHAAE ILDMESRHIS ETETLKREHY VAVQLLKEEC GTLKAVIQCL RSKEGSSIPE LAHSDAYQTR EICSSDSGSD WGQGIYLTHS QGFDIASEGR GEESESATDS FPKKIKGLLR AVHNEGMQVL SLTESPYSDG EDHSIQQVSE PWLEERKAYI NTISSLKDLI TKMQLQREAE VYDSSQSHES FSDWRGELLL ALQQVFLEER SVLLAAFRTE LTALGTTDAV GLLNCLEQRI QEQGVEYQAA MECLQKADRR SLLSEIQALH AQMNGRKITL KREQESEKPS QELLEYNIQQ KQSQMLEMQV ELSSMKDRAT ELQEQLSSEK MVVAELKSEL AQTKLELETT LKAQHKHLKE LEAFRLEVKD KTDEVHLLND TLASEQKKSR ELQWALEKEK AKLGRSEERD KEELEDLKFS LESQKQRNLQ LNLLLEQQKQ LLNESQQKIE SQRMLYDAQL SEEQGRNLEL QVLLESEKVR IREMSSTLDR ERELHAQLQS SDGTGQSRPP LPSEDLLKEL QKQLEEKHSR IVELLNETEK YKLDSLQTRQ QMEKDRQVHR KTLQTEQEAN TEGQKKMHEL QSKVEDLQRQ LEEKRQQVYK LDLEGQRLQG IMQEFQKQEL EREEKRESRR ILYQNLNEPT TWSLTSDRTR NWVLQQKIEG ETKESNYAKL IEMNGGGTGC NHELEMIRQK LQCVASKLQV LPQKASERLQ FETADDEDFI WVQENIDEII LQLQKLTGQQ GEEPSLVSPS TSCGSLTERL LRQNAELTGH ISQLTEEKND LRNMVMKLEE QIRWYRQTGA GRDNSSRFSL NGGANIEAII ASEKEVWNRE KLTLQKSLKR AEAEVYKLKA ELRNDSLLQT LSPDSEHVTL KRIYGKYLRA ESFRKALIYQ KKYLLLLLGG FQECEVATLA LLARMGGQPA FTDLEVITNR PKGFTRFRSA VRVSIAISRM KFLVRRWHRV TGSVSININR DGFGLNQGAE KTDSFYHSSG GLELYGEPRH TTYRSRSDLD YIRSPLPFQN RYPGTPADFN PGSLACSQLQ NYDPDRALTD YITRLEALQR RLGTIQSGAL SLTTSWQHHS ARPTAPLSLK FFHTH* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 11748 / 11748 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 3916 / 3916 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 11986 / 11986 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 239 / 239 | |||||||||||||
| Last intron/exon boundary | 11760 | |||||||||||||
| Theoretical NMD boundary in CDS | 11471 | |||||||||||||
| Length of CDS | 11748 | |||||||||||||
| Coding sequence (CDS) position | 11177 | |||||||||||||
| cDNA position | 11415 | |||||||||||||
| gDNA position | 161858 | |||||||||||||
| Chromosomal position | 92102697 | |||||||||||||
| 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 | Chr7:92102697A>T (GRCh38) | |||||||||||||
| Gene symbol | AKAP9 | |||||||||||||
| Gene constraints | LOEUF: 0.66, LOF (oe): 0.60, misssense (oe): 0.91, synonymous (oe): 0.94 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000679521.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.11147A>T g.161858A>T | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 7 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | TGGGTTCCAGGAATGTGAAGATGCCACCTTGGCCCTGCTTG | |||||||||||||
| Altered gDNA sequence snippet | TGGGTTCCAGGAATGTGAAGTTGCCACCTTGGCCCTGCTTG | |||||||||||||
| Original cDNA sequence snippet | TGGGTTCCAGGAATGTGAAGATGCCACCTTGGCCCTGCTTG | |||||||||||||
| Altered cDNA sequence snippet | TGGGTTCCAGGAATGTGAAGTTGCCACCTTGGCCCTGCTTG | |||||||||||||
| Wildtype AA sequence | MEDEERQKKL EAGKAKLAQF RQRKAQSDGQ SPSKKQKKKR KTSSSKHDVS AHHDLNIDQS QCNEMYINSS QRVESTVIPE STIMRTLHSG EITSHEQGFS VELESEISTT ADDCSSEEEE FGVDDSYSEQ GAQDSPTHLE MMESELAGKQ HEIEELNREL EEMRVTYGTE GLQQLQEFEA AIKQRDGIIT QLTANLQQAR REKDETMREF LELTEQSQKL QIQFQQLQAS ETLRNSTHSS TAADLLQAKQ QILTHQQQLE EQDHLLEDYQ KKKEDFTMQI SFLQEKIKVY EMEQDKKVEN SNKEEIQEKE TIIEELNTKI IEEEKKTLEL KDKLTTADKL LGELQEQIVQ KNQEIKNMKL ELTNSKQKER QSSEEIKQLM GTVEELQKRN HKDSQFETDI VQRMEQETQR KLEQLRAELD EMYGQQIVQM KQELIRQHMA QMEEMKTRHK GEMENALRSY SNITVNEDQI KLMNVAINEL NIKLQDTNSQ KEKLKEELGL ILEEKCALQR QLEDLVEELS FSREQIQRAR QTIAEQESKL NEAHKSLSTV EDLKAEIVSA SESRKELELK HEAEVTNYKI KLEMLEKEKN AVLDRMAESQ EAELERLRTQ LLFSHEEELS KLKEDLEIEH RINIEKLKDN LGIHYKQQID GLQNEMSQKI ETMQFEKDNL ITKQNQLILE ISKLKDLQQS LVNSKSEEMT LQINELQKEI EILRQEEKEK GTLEQEVQEL QLKTELLEKQ MKEKENDLQE KFAQLEAENS ILKDEKKTLE DMLKIHTPVS QEERLIFLDS IKSKSKDSVW EKEIEILIEE NEDLKQQCIQ LNEEIEKQRN TFSFAEKNFE VNYQELQEEY ACLLKVKDDL EDSKNKQELE YKSKLKALNE ELHLQRINPT TVKMKSSVFD EDKTFVAETL EMGEVVEKDT TELMEKLEVT KREKLELSQR LSDLSEQLKQ KHGEISFLNE EVKSLKQEKE QVSLRCRELE IIINHNRAEN VQSCDTQVSS LLDGVVTMTS RGAEGSVSKV NKSFGEESKI MVEDKVSFEN MTVGEESKQE QLILDHLPSV TKESSLRATQ PSENDKLQKE LNVLKSEQND LRLQMEAQRI CLSLVYSTHV DQVREYMENE KDKALCSLKE ELIFAQEEKI KELQKIHQLE LQTMKTQETG DEGKPLHLLI GKLQKAVSEE CSYFLQTLCS VLGEYYTPAL KCEVNAEDKE NSGDYISENE DPELQDYRYE VQDFQENMHT LLNKVTEEYN KLLVLQTRLS KIWGQQTDGM KLEFGEENLP KEETEFLSIH SQMTNLEDID VNHKSKLSSL QDLEKTKLEE QVQELESLIS SLQQQLKETE QNYEAEIHCL QKRLQAVSES TVPPSLPVDS VVITESDAQR TMYPGSCVKK NIDGTIEFSG EFGVKEETNI VKLLEKQYQE QLEEEVAKVI VSMSIAFAQQ TELSRISGGK ENTASSKQAH AVCQQEQHYF NEMKLSQDQI GFQTFETVDV KFKEEFKPLS KELGEHGKEI LLSNSDPHDI PESKDCVLTI SEEMFSKDKT FIVRQSIHDE ISVSSMDASR QLMLNEEQLE DMRQELVRQY QEHQQATELL RQAHMRQMER QREDQEQLQE EIKRLNRQLA QRSSIDNENL VSERERVLLE ELEALKQLSL AGREKLCCEL RNSSTQTQNG NENQGEVEEQ TFKEKELDRK PEDVPPEILS NERYALQKAN NRLLKILLEV VKTTAAVEET IGRHVLGILD RSSKSQSSAS LIWRSEAEAS VKSCVHEEHT RVTDESIPSY SGSDMPRNDI NMWSKVTEEG TELSQRLVRS GFAGTEIDPE NEELMLNISS RLQAAVEKLL EAISETSSQL EHAKVTQTEL MRESFRQKQE ATESLKCQEE LRERLHEESR AREQLAVELS KAEGVIDGYA DEKTLFERQI QEKTDIIDRL EQELLCASNR LQELEAEQQQ IQEERELLSR QKEAMKAEAG PVEQQLLQET EKLMKEKLEV QCQAEKVRDD LQKQVKALEI DVEEQVSRFI ELEQEKNTEL MDLRQQNQAL EKQLEKMRKF LDEQAIDREH ERDVFQQEIQ KLEQQLKVVP RFQPISEHQT REVEQLANHL KEKTDKCSEL LLSKEQLQRD IQERNEEIEK LEFRVRELEQ ALLVSADTFQ KVEDRKHFGA VEAKPELSLE VQLQAERDAI DRKEKEITNL EEQLEQFREE LENKNEEVQQ LHMQLEIQKK ESTTRLQELE QENKLFKDDM EKLGLAIKES DAMSTQDQHV LFGKFAQIIQ EKEVEIDQLN EQVTKLQQQL KITTDNKVIE EKNELIRDLE TQIECLMSDQ ECVKRNREEE IEQLNEVIEK LQQELANIGQ KTSMNAHSLS EEADSLKHQL DVVIAEKLAL EQQVETANEE MTFMKNVLKE TNFKMNQLTQ ELFSLKRERE SVEKIQSIPE NSVNVAIDHL SKDKPELEVV LTEDALKSLE NQTYFKSFEE NGKGSIINLE TRLLQLESTV SAKDLELTQC YKQIKDMQEQ GQFETEMLQK KIVNLQKIVE EKVAAALVSQ IQLEAVQEYA KFCQDNQTIS SEPERTNIQN LNQLREDELG SDISALTLRI SELESQVVEM HTSLILEKEQ VEIAEKNVLE KEKKLLELQK LLEGNEKKQR EKEKKRSPQD VEVLKTTTEL FHSNEESGFF NELEALRAES VATKAELASY KEKAEKLQEE LLVKETNMTS LQKDLSQVRD HLAEAKEKLS ILEKEDETEV QESKKACMFE PLPIKLSKSI ASQTDGTLKI SSSNQTPQIL VKNAGIQINL QSECSSEEVT EIISQFTEKI EKMQELHAAE ILDMESRHIS ETETLKREHY VAVQLLKEEC GTLKAVIQCL RSKEGSSIPE LAHSDAYQTR EICSSDSGSD WGQGIYLTHS QGFDIASEGR GEESESATDS FPKKIKGLLR AVHNEGMQVL SLTESPYSDG EDHSIQQVSE PWLEERKAYI NTISSLKDLI TKMQLQREAE VYDSSQSHES FSDWRGELLL ALQQVFLEER SVLLAAFRTE LTALGTTDAV GLLNCLEQRI QEQGVEYQAA MECLQKADRR SLLSEIQALH AQMNGRKITL KREQESEKPS QELLEYNIQQ KQSQMLEMQV ELSSMKDRAT ELQEQLSSEK MVVAELKSEL AQTKLELETT LKAQHKHLKE LEAFRLEVKD KTDEVHLLND TLASEQKKSR ELQWALEKEK AKLGRSEERD KEELEDLKFS LESQKQRNLQ LNLLLEQQKQ LLNESQQKIE SQRMLYDAQL SEEQGRNLEL QVLLESEKVR IREMSSTLDR ERELHAQLQS SDGTGQSRPP LPSEDLLKEL QKQLEEKHSR IVELLNETEK YKLDSLQTRQ QMEKDRQVHR KTLQTEQEAN TEGQKKMHEL QSKVEDLQRQ LEEKRQQVYK LDLEGQRLQG IMQEFQKQEL EREEKRESRR ILYQNLNEPT TWSLTSDRTR NWVLQQKIEG ETKESNYAKL IEMNGGGTGC NHELEMIRQK LQCVASKLQV LPQKASERLQ FETADDEDFI WVQENIDEII LQLQKLTGQQ GEEPSLVSPS TSCGSLTERL LRQNAELTGH ISQLTEEKND LRNMVMKLEE QIRWYRQTGA GRDNSSRFSL NGGANIEAII ASEKEVWNRE KLTLQKSLKR AEAEVYKLKA ELRNDSLLQT LSPDSEHVTL KRIYGKYLRA ESFRKALIYQ KKYLLLLLGG FQECEDATLA LLARMGGQPA FTDLEVITNR PKGFTRFRSA VRVSIAISRM KFLVRRWHRV TGSVSININR DGFGLNQGAE KTDSFYHSSG GLELYGEPRH TTYRSRSDLD YIRSPLPFQN RYPGTPADFN PGSLACSQLQ NYDPDRALTD YITRLEALQR RLGTIQSGST TQFHAGMRR* | |||||||||||||
| Mutated AA sequence | MEDEERQKKL EAGKAKLAQF RQRKAQSDGQ SPSKKQKKKR KTSSSKHDVS AHHDLNIDQS QCNEMYINSS QRVESTVIPE STIMRTLHSG EITSHEQGFS VELESEISTT ADDCSSEEEE FGVDDSYSEQ GAQDSPTHLE MMESELAGKQ HEIEELNREL EEMRVTYGTE GLQQLQEFEA AIKQRDGIIT QLTANLQQAR REKDETMREF LELTEQSQKL QIQFQQLQAS ETLRNSTHSS TAADLLQAKQ QILTHQQQLE EQDHLLEDYQ KKKEDFTMQI SFLQEKIKVY EMEQDKKVEN SNKEEIQEKE TIIEELNTKI IEEEKKTLEL KDKLTTADKL LGELQEQIVQ KNQEIKNMKL ELTNSKQKER QSSEEIKQLM GTVEELQKRN HKDSQFETDI VQRMEQETQR KLEQLRAELD EMYGQQIVQM KQELIRQHMA QMEEMKTRHK GEMENALRSY SNITVNEDQI KLMNVAINEL NIKLQDTNSQ KEKLKEELGL ILEEKCALQR QLEDLVEELS FSREQIQRAR QTIAEQESKL NEAHKSLSTV EDLKAEIVSA SESRKELELK HEAEVTNYKI KLEMLEKEKN AVLDRMAESQ EAELERLRTQ LLFSHEEELS KLKEDLEIEH RINIEKLKDN LGIHYKQQID GLQNEMSQKI ETMQFEKDNL ITKQNQLILE ISKLKDLQQS LVNSKSEEMT LQINELQKEI EILRQEEKEK GTLEQEVQEL QLKTELLEKQ MKEKENDLQE KFAQLEAENS ILKDEKKTLE DMLKIHTPVS QEERLIFLDS IKSKSKDSVW EKEIEILIEE NEDLKQQCIQ LNEEIEKQRN TFSFAEKNFE VNYQELQEEY ACLLKVKDDL EDSKNKQELE YKSKLKALNE ELHLQRINPT TVKMKSSVFD EDKTFVAETL EMGEVVEKDT TELMEKLEVT KREKLELSQR LSDLSEQLKQ KHGEISFLNE EVKSLKQEKE QVSLRCRELE IIINHNRAEN VQSCDTQVSS LLDGVVTMTS RGAEGSVSKV NKSFGEESKI MVEDKVSFEN MTVGEESKQE QLILDHLPSV TKESSLRATQ PSENDKLQKE LNVLKSEQND LRLQMEAQRI CLSLVYSTHV DQVREYMENE KDKALCSLKE ELIFAQEEKI KELQKIHQLE LQTMKTQETG DEGKPLHLLI GKLQKAVSEE CSYFLQTLCS VLGEYYTPAL KCEVNAEDKE NSGDYISENE DPELQDYRYE VQDFQENMHT LLNKVTEEYN KLLVLQTRLS KIWGQQTDGM KLEFGEENLP KEETEFLSIH SQMTNLEDID VNHKSKLSSL QDLEKTKLEE QVQELESLIS SLQQQLKETE QNYEAEIHCL QKRLQAVSES TVPPSLPVDS VVITESDAQR TMYPGSCVKK NIDGTIEFSG EFGVKEETNI VKLLEKQYQE QLEEEVAKVI VSMSIAFAQQ TELSRISGGK ENTASSKQAH AVCQQEQHYF NEMKLSQDQI GFQTFETVDV KFKEEFKPLS KELGEHGKEI LLSNSDPHDI PESKDCVLTI SEEMFSKDKT FIVRQSIHDE ISVSSMDASR QLMLNEEQLE DMRQELVRQY QEHQQATELL RQAHMRQMER QREDQEQLQE EIKRLNRQLA QRSSIDNENL VSERERVLLE ELEALKQLSL AGREKLCCEL RNSSTQTQNG NENQGEVEEQ TFKEKELDRK PEDVPPEILS NERYALQKAN NRLLKILLEV VKTTAAVEET IGRHVLGILD RSSKSQSSAS LIWRSEAEAS VKSCVHEEHT RVTDESIPSY SGSDMPRNDI NMWSKVTEEG TELSQRLVRS GFAGTEIDPE NEELMLNISS RLQAAVEKLL EAISETSSQL EHAKVTQTEL MRESFRQKQE ATESLKCQEE LRERLHEESR AREQLAVELS KAEGVIDGYA DEKTLFERQI QEKTDIIDRL EQELLCASNR LQELEAEQQQ IQEERELLSR QKEAMKAEAG PVEQQLLQET EKLMKEKLEV QCQAEKVRDD LQKQVKALEI DVEEQVSRFI ELEQEKNTEL MDLRQQNQAL EKQLEKMRKF LDEQAIDREH ERDVFQQEIQ KLEQQLKVVP RFQPISEHQT REVEQLANHL KEKTDKCSEL LLSKEQLQRD IQERNEEIEK LEFRVRELEQ ALLVSADTFQ KVEDRKHFGA VEAKPELSLE VQLQAERDAI DRKEKEITNL EEQLEQFREE LENKNEEVQQ LHMQLEIQKK ESTTRLQELE QENKLFKDDM EKLGLAIKES DAMSTQDQHV LFGKFAQIIQ EKEVEIDQLN EQVTKLQQQL KITTDNKVIE EKNELIRDLE TQIECLMSDQ ECVKRNREEE IEQLNEVIEK LQQELANIGQ KTSMNAHSLS EEADSLKHQL DVVIAEKLAL EQQVETANEE MTFMKNVLKE TNFKMNQLTQ ELFSLKRERE SVEKIQSIPE NSVNVAIDHL SKDKPELEVV LTEDALKSLE NQTYFKSFEE NGKGSIINLE TRLLQLESTV SAKDLELTQC YKQIKDMQEQ GQFETEMLQK KIVNLQKIVE EKVAAALVSQ IQLEAVQEYA KFCQDNQTIS SEPERTNIQN LNQLREDELG SDISALTLRI SELESQVVEM HTSLILEKEQ VEIAEKNVLE KEKKLLELQK LLEGNEKKQR EKEKKRSPQD VEVLKTTTEL FHSNEESGFF NELEALRAES VATKAELASY KEKAEKLQEE LLVKETNMTS LQKDLSQVRD HLAEAKEKLS ILEKEDETEV QESKKACMFE PLPIKLSKSI ASQTDGTLKI SSSNQTPQIL VKNAGIQINL QSECSSEEVT EIISQFTEKI EKMQELHAAE ILDMESRHIS ETETLKREHY VAVQLLKEEC GTLKAVIQCL RSKEGSSIPE LAHSDAYQTR EICSSDSGSD WGQGIYLTHS QGFDIASEGR GEESESATDS FPKKIKGLLR AVHNEGMQVL SLTESPYSDG EDHSIQQVSE PWLEERKAYI NTISSLKDLI TKMQLQREAE VYDSSQSHES FSDWRGELLL ALQQVFLEER SVLLAAFRTE LTALGTTDAV GLLNCLEQRI QEQGVEYQAA MECLQKADRR SLLSEIQALH AQMNGRKITL KREQESEKPS QELLEYNIQQ KQSQMLEMQV ELSSMKDRAT ELQEQLSSEK MVVAELKSEL AQTKLELETT LKAQHKHLKE LEAFRLEVKD KTDEVHLLND TLASEQKKSR ELQWALEKEK AKLGRSEERD KEELEDLKFS LESQKQRNLQ LNLLLEQQKQ LLNESQQKIE SQRMLYDAQL SEEQGRNLEL QVLLESEKVR IREMSSTLDR ERELHAQLQS SDGTGQSRPP LPSEDLLKEL QKQLEEKHSR IVELLNETEK YKLDSLQTRQ QMEKDRQVHR KTLQTEQEAN TEGQKKMHEL QSKVEDLQRQ LEEKRQQVYK LDLEGQRLQG IMQEFQKQEL EREEKRESRR ILYQNLNEPT TWSLTSDRTR NWVLQQKIEG ETKESNYAKL IEMNGGGTGC NHELEMIRQK LQCVASKLQV LPQKASERLQ FETADDEDFI WVQENIDEII LQLQKLTGQQ GEEPSLVSPS TSCGSLTERL LRQNAELTGH ISQLTEEKND LRNMVMKLEE QIRWYRQTGA GRDNSSRFSL NGGANIEAII ASEKEVWNRE KLTLQKSLKR AEAEVYKLKA ELRNDSLLQT LSPDSEHVTL KRIYGKYLRA ESFRKALIYQ KKYLLLLLGG FQECEVATLA LLARMGGQPA FTDLEVITNR PKGFTRFRSA VRVSIAISRM KFLVRRWHRV TGSVSININR DGFGLNQGAE KTDSFYHSSG GLELYGEPRH TTYRSRSDLD YIRSPLPFQN RYPGTPADFN PGSLACSQLQ NYDPDRALTD YITRLEALQR RLGTIQSGST TQFHAGMRR* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 11670 / 11670 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 3890 / 3890 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 11908 / 11908 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 239 / 239 | |||||||||||||
| Last intron/exon boundary | 11870 | |||||||||||||
| Theoretical NMD boundary in CDS | 11581 | |||||||||||||
| Length of CDS | 11670 | |||||||||||||
| Coding sequence (CDS) position | 11147 | |||||||||||||
| cDNA position | 11385 | |||||||||||||
| gDNA position | 161858 | |||||||||||||
| Chromosomal position | 92102697 | |||||||||||||
| 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 | Chr7:92102697A>T (GRCh38) | |||||||||||||
| Gene symbol | AKAP9 | |||||||||||||
| Gene constraints | LOEUF: 0.66, LOF (oe): 0.60, misssense (oe): 0.91, synonymous (oe): 0.94 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000356239.8 | |||||||||||||
| Genbank transcript ID | NM_005751 (exact from MANE) | |||||||||||||
| UniProt / AlphaMissense peptide | AKAP9_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.11201A>T g.161858A>T | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features |
| |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 7 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | TGGGTTCCAGGAATGTGAAGATGCCACCTTGGCCCTGCTTG | |||||||||||||
| Altered gDNA sequence snippet | TGGGTTCCAGGAATGTGAAGTTGCCACCTTGGCCCTGCTTG | |||||||||||||
| Original cDNA sequence snippet | TGGGTTCCAGGAATGTGAAGATGCCACCTTGGCCCTGCTTG | |||||||||||||
| Altered cDNA sequence snippet | TGGGTTCCAGGAATGTGAAGTTGCCACCTTGGCCCTGCTTG | |||||||||||||
| Wildtype AA sequence | MEDEERQKKL EAGKAKLAQF RQRKAQSDGQ SPSKKQKKKR KTSSSKHDVS AHHDLNIDQS QCNEMYINSS QRVESTVIPE STIMRTLHSG EITSHEQGFS VELESEISTT ADDCSSEVNG CSFVMRTGKP TNLLREEEFG VDDSYSEQGA QDSPTHLEMM ESELAGKQHE IEELNRELEE MRVTYGTEGL QQLQEFEAAI KQRDGIITQL TANLQQARRE KDETMREFLE LTEQSQKLQI QFQQLQASET LRNSTHSSTA ADLLQAKQQI LTHQQQLEEQ DHLLEDYQKK KEDFTMQISF LQEKIKVYEM EQDKKVENSN KEEIQEKETI IEELNTKIIE EEKKTLELKD KLTTADKLLG ELQEQIVQKN QEIKNMKLEL TNSKQKERQS SEEIKQLMGT VEELQKRNHK DSQFETDIVQ RMEQETQRKL EQLRAELDEM YGQQIVQMKQ ELIRQHMAQM EEMKTRHKGE MENALRSYSN ITVNEDQIKL MNVAINELNI KLQDTNSQKE KLKEELGLIL EEKCALQRQL EDLVEELSFS REQIQRARQT IAEQESKLNE AHKSLSTVED LKAEIVSASE SRKELELKHE AEVTNYKIKL EMLEKEKNAV LDRMAESQEA ELERLRTQLL FSHEEELSKL KEDLEIEHRI NIEKLKDNLG IHYKQQIDGL QNEMSQKIET MQFEKDNLIT KQNQLILEIS KLKDLQQSLV NSKSEEMTLQ INELQKEIEI LRQEEKEKGT LEQEVQELQL KTELLEKQMK EKENDLQEKF AQLEAENSIL KDEKKTLEDM LKIHTPVSQE ERLIFLDSIK SKSKDSVWEK EIEILIEENE DLKQQCIQLN EEIEKQRNTF SFAEKNFEVN YQELQEEYAC LLKVKDDLED SKNKQELEYK SKLKALNEEL HLQRINPTTV KMKSSVFDED KTFVAETLEM GEVVEKDTTE LMEKLEVTKR EKLELSQRLS DLSEQLKQKH GEISFLNEEV KSLKQEKEQV SLRCRELEII INHNRAENVQ SCDTQVSSLL DGVVTMTSRG AEGSVSKVNK SFGEESKIMV EDKVSFENMT VGEESKQEQL ILDHLPSVTK ESSLRATQPS ENDKLQKELN VLKSEQNDLR LQMEAQRICL SLVYSTHVDQ VREYMENEKD KALCSLKEEL IFAQEEKIKE LQKIHQLELQ TMKTQETGDE GKPLHLLIGK LQKAVSEECS YFLQTLCSVL GEYYTPALKC EVNAEDKENS GDYISENEDP ELQDYRYEVQ DFQENMHTLL NKVTEEYNKL LVLQTRLSKI WGQQTDGMKL EFGEENLPKE ETEFLSIHSQ MTNLEDIDVN HKSKLSSLQD LEKTKLEEQV QELESLISSL QQQLKETEQN YEAEIHCLQK RLQAVSESTV PPSLPVDSVV ITESDAQRTM YPGSCVKKNI DGTIEFSGEF GVKEETNIVK LLEKQYQEQL EEEVAKVIVS MSIAFAQQTE LSRISGGKEN TASSKQAHAV CQQEQHYFNE MKLSQDQIGF QTFETVDVKF KEEFKPLSKE LGEHGKEILL SNSDPHDIPE SKDCVLTISE EMFSKDKTFI VRQSIHDEIS VSSMDASRQL MLNEEQLEDM RQELVRQYQE HQQATELLRQ AHMRQMERQR EDQEQLQEEI KRLNRQLAQR SSIDNENLVS ERERVLLEEL EALKQLSLAG REKLCCELRN SSTQTQNGNE NQGEVEEQTF KEKELDRKPE DVPPEILSNE RYALQKANNR LLKILLEVVK TTAAVEETIG RHVLGILDRS SKSQSSASLI WRSEAEASVK SCVHEEHTRV TDESIPSYSG SDMPRNDINM WSKVTEEGTE LSQRLVRSGF AGTEIDPENE ELMLNISSRL QAAVEKLLEA ISETSSQLEH AKVTQTELMR ESFRQKQEAT ESLKCQEELR ERLHEESRAR EQLAVELSKA EGVIDGYADE KTLFERQIQE KTDIIDRLEQ ELLCASNRLQ ELEAEQQQIQ EERELLSRQK EAMKAEAGPV EQQLLQETEK LMKEKLEVQC QAEKVRDDLQ KQVKALEIDV EEQVSRFIEL EQEKNTELMD LRQQNQALEK QLEKMRKFLD EQAIDREHER DVFQQEIQKL EQQLKVVPRF QPISEHQTRE VEQLANHLKE KTDKCSELLL SKEQLQRDIQ ERNEEIEKLE FRVRELEQAL LVSADTFQKV EDRKHFGAVE AKPELSLEVQ LQAERDAIDR KEKEITNLEE QLEQFREELE NKNEEVQQLH MQLEIQKKES TTRLQELEQE NKLFKDDMEK LGLAIKESDA MSTQDQHVLF GKFAQIIQEK EVEIDQLNEQ VTKLQQQLKI TTDNKVIEEK NELIRDLETQ IECLMSDQEC VKRNREEEIE QLNEVIEKLQ QELANIGQKT SMNAHSLSEE ADSLKHQLDV VIAEKLALEQ QVETANEEMT FMKNVLKETN FKMNQLTQEL FSLKRERESV EKIQSIPENS VNVAIDHLSK DKPELEVVLT EDALKSLENQ TYFKSFEENG KGSIINLETR LLQLESTVSA KDLELTQCYK QIKDMQEQGQ FETEMLQKKI VNLQKIVEEK VAAALVSQIQ LEAVQEYAKF CQDNQTISSE PERTNIQNLN QLREDELGSD ISALTLRISE LESQVVEMHT SLILEKEQVE IAEKNVLEKE KKLLELQKLL EGNEKKQREK EKKRSPQDVE VLKTTTELFH SNEESGFFNE LEALRAESVA TKAELASYKE KAEKLQEELL VKETNMTSLQ KDLSQVRDHL AEAKEKLSIL EKEDETEVQE SKKACMFEPL PIKLSKSIAS QTDGTLKISS SNQTPQILVK NAGIQINLQS ECSSEEVTEI ISQFTEKIEK MQELHAAEIL DMESRHISET ETLKREHYVA VQLLKEECGT LKAVIQCLRS KEGSSIPELA HSDAYQTREI CSSDSGSDWG QGIYLTHSQG FDIASEGRGE ESESATDSFP KKIKGLLRAV HNEGMQVLSL TESPYSDGED HSIQQVSEPW LEERKAYINT ISSLKDLITK MQLQREAEVY DSSQSHESFS DWRGELLLAL QQVFLEERSV LLAAFRTELT ALGTTDAVGL LNCLEQRIQE QGVEYQAAME CLQKADRRSL LSEIQALHAQ MNGRKITLKR EQESEKPSQE LLEYNIQQKQ SQMLEMQVEL SSMKDRATEL QEQLSSEKMV VAELKSELAQ TKLELETTLK AQHKHLKELE AFRLEVKDKT DEVHLLNDTL ASEQKKSREL QWALEKEKAK LGRSEERDKE ELEDLKFSLE SQKQRNLQLN LLLEQQKQLL NESQQKIESQ RMLYDAQLSE EQGRNLELQV LLESEKVRIR EMSSTLDRER ELHAQLQSSD GTGQSRPPLP SEDLLKELQK QLEEKHSRIV ELLNETEKYK LDSLQTRQQM EKDRQVHRKT LQTEQEANTE GQKKMHELQS KVEDLQRQLE EKRQQVYKLD LEGQRLQGIM QEFQKQELER EEKRESRRIL YQNLNEPTTW SLTSDRTRNW VLQQKIEGET KESNYAKLIE MNGGGTGCNH ELEMIRQKLQ CVASKLQVLP QKASERLQFE TADDEDFIWV QENIDEIILQ LQKLTGQQGE EPSLVSPSTS CGSLTERLLR QNAELTGHIS QLTEEKNDLR NMVMKLEEQI RWYRQTGAGR DNSSRFSLNG GANIEAIIAS EKEVWNREKL TLQKSLKRAE AEVYKLKAEL RNDSLLQTLS PDSEHVTLKR IYGKYLRAES FRKALIYQKK YLLLLLGGFQ ECEDATLALL ARMGGQPAFT DLEVITNRPK GFTRFRSAVR VSIAISRMKF LVRRWHRVTG SVSININRDG FGLNQGAEKT DSFYHSSGGL ELYGEPRHTT YRSRSDLDYI RSPLPFQNRY PGTPADFNPG SLACSQLQNY DPDRALTDYI TRLEALQRRL GTIQSGSTTQ FHAGMRR* | |||||||||||||
| Mutated AA sequence | MEDEERQKKL EAGKAKLAQF RQRKAQSDGQ SPSKKQKKKR KTSSSKHDVS AHHDLNIDQS QCNEMYINSS QRVESTVIPE STIMRTLHSG EITSHEQGFS VELESEISTT ADDCSSEVNG CSFVMRTGKP TNLLREEEFG VDDSYSEQGA QDSPTHLEMM ESELAGKQHE IEELNRELEE MRVTYGTEGL QQLQEFEAAI KQRDGIITQL TANLQQARRE KDETMREFLE LTEQSQKLQI QFQQLQASET LRNSTHSSTA ADLLQAKQQI LTHQQQLEEQ DHLLEDYQKK KEDFTMQISF LQEKIKVYEM EQDKKVENSN KEEIQEKETI IEELNTKIIE EEKKTLELKD KLTTADKLLG ELQEQIVQKN QEIKNMKLEL TNSKQKERQS SEEIKQLMGT VEELQKRNHK DSQFETDIVQ RMEQETQRKL EQLRAELDEM YGQQIVQMKQ ELIRQHMAQM EEMKTRHKGE MENALRSYSN ITVNEDQIKL MNVAINELNI KLQDTNSQKE KLKEELGLIL EEKCALQRQL EDLVEELSFS REQIQRARQT IAEQESKLNE AHKSLSTVED LKAEIVSASE SRKELELKHE AEVTNYKIKL EMLEKEKNAV LDRMAESQEA ELERLRTQLL FSHEEELSKL KEDLEIEHRI NIEKLKDNLG IHYKQQIDGL QNEMSQKIET MQFEKDNLIT KQNQLILEIS KLKDLQQSLV NSKSEEMTLQ INELQKEIEI LRQEEKEKGT LEQEVQELQL KTELLEKQMK EKENDLQEKF AQLEAENSIL KDEKKTLEDM LKIHTPVSQE ERLIFLDSIK SKSKDSVWEK EIEILIEENE DLKQQCIQLN EEIEKQRNTF SFAEKNFEVN YQELQEEYAC LLKVKDDLED SKNKQELEYK SKLKALNEEL HLQRINPTTV KMKSSVFDED KTFVAETLEM GEVVEKDTTE LMEKLEVTKR EKLELSQRLS DLSEQLKQKH GEISFLNEEV KSLKQEKEQV SLRCRELEII INHNRAENVQ SCDTQVSSLL DGVVTMTSRG AEGSVSKVNK SFGEESKIMV EDKVSFENMT VGEESKQEQL ILDHLPSVTK ESSLRATQPS ENDKLQKELN VLKSEQNDLR LQMEAQRICL SLVYSTHVDQ VREYMENEKD KALCSLKEEL IFAQEEKIKE LQKIHQLELQ TMKTQETGDE GKPLHLLIGK LQKAVSEECS YFLQTLCSVL GEYYTPALKC EVNAEDKENS GDYISENEDP ELQDYRYEVQ DFQENMHTLL NKVTEEYNKL LVLQTRLSKI WGQQTDGMKL EFGEENLPKE ETEFLSIHSQ MTNLEDIDVN HKSKLSSLQD LEKTKLEEQV QELESLISSL QQQLKETEQN YEAEIHCLQK RLQAVSESTV PPSLPVDSVV ITESDAQRTM YPGSCVKKNI DGTIEFSGEF GVKEETNIVK LLEKQYQEQL EEEVAKVIVS MSIAFAQQTE LSRISGGKEN TASSKQAHAV CQQEQHYFNE MKLSQDQIGF QTFETVDVKF KEEFKPLSKE LGEHGKEILL SNSDPHDIPE SKDCVLTISE EMFSKDKTFI VRQSIHDEIS VSSMDASRQL MLNEEQLEDM RQELVRQYQE HQQATELLRQ AHMRQMERQR EDQEQLQEEI KRLNRQLAQR SSIDNENLVS ERERVLLEEL EALKQLSLAG REKLCCELRN SSTQTQNGNE NQGEVEEQTF KEKELDRKPE DVPPEILSNE RYALQKANNR LLKILLEVVK TTAAVEETIG RHVLGILDRS SKSQSSASLI WRSEAEASVK SCVHEEHTRV TDESIPSYSG SDMPRNDINM WSKVTEEGTE LSQRLVRSGF AGTEIDPENE ELMLNISSRL QAAVEKLLEA ISETSSQLEH AKVTQTELMR ESFRQKQEAT ESLKCQEELR ERLHEESRAR EQLAVELSKA EGVIDGYADE KTLFERQIQE KTDIIDRLEQ ELLCASNRLQ ELEAEQQQIQ EERELLSRQK EAMKAEAGPV EQQLLQETEK LMKEKLEVQC QAEKVRDDLQ KQVKALEIDV EEQVSRFIEL EQEKNTELMD LRQQNQALEK QLEKMRKFLD EQAIDREHER DVFQQEIQKL EQQLKVVPRF QPISEHQTRE VEQLANHLKE KTDKCSELLL SKEQLQRDIQ ERNEEIEKLE FRVRELEQAL LVSADTFQKV EDRKHFGAVE AKPELSLEVQ LQAERDAIDR KEKEITNLEE QLEQFREELE NKNEEVQQLH MQLEIQKKES TTRLQELEQE NKLFKDDMEK LGLAIKESDA MSTQDQHVLF GKFAQIIQEK EVEIDQLNEQ VTKLQQQLKI TTDNKVIEEK NELIRDLETQ IECLMSDQEC VKRNREEEIE QLNEVIEKLQ QELANIGQKT SMNAHSLSEE ADSLKHQLDV VIAEKLALEQ QVETANEEMT FMKNVLKETN FKMNQLTQEL FSLKRERESV EKIQSIPENS VNVAIDHLSK DKPELEVVLT EDALKSLENQ TYFKSFEENG KGSIINLETR LLQLESTVSA KDLELTQCYK QIKDMQEQGQ FETEMLQKKI VNLQKIVEEK VAAALVSQIQ LEAVQEYAKF CQDNQTISSE PERTNIQNLN QLREDELGSD ISALTLRISE LESQVVEMHT SLILEKEQVE IAEKNVLEKE KKLLELQKLL EGNEKKQREK EKKRSPQDVE VLKTTTELFH SNEESGFFNE LEALRAESVA TKAELASYKE KAEKLQEELL VKETNMTSLQ KDLSQVRDHL AEAKEKLSIL EKEDETEVQE SKKACMFEPL PIKLSKSIAS QTDGTLKISS SNQTPQILVK NAGIQINLQS ECSSEEVTEI ISQFTEKIEK MQELHAAEIL DMESRHISET ETLKREHYVA VQLLKEECGT LKAVIQCLRS KEGSSIPELA HSDAYQTREI CSSDSGSDWG QGIYLTHSQG FDIASEGRGE ESESATDSFP KKIKGLLRAV HNEGMQVLSL TESPYSDGED HSIQQVSEPW LEERKAYINT ISSLKDLITK MQLQREAEVY DSSQSHESFS DWRGELLLAL QQVFLEERSV LLAAFRTELT ALGTTDAVGL LNCLEQRIQE QGVEYQAAME CLQKADRRSL LSEIQALHAQ MNGRKITLKR EQESEKPSQE LLEYNIQQKQ SQMLEMQVEL SSMKDRATEL QEQLSSEKMV VAELKSELAQ TKLELETTLK AQHKHLKELE AFRLEVKDKT DEVHLLNDTL ASEQKKSREL QWALEKEKAK LGRSEERDKE ELEDLKFSLE SQKQRNLQLN LLLEQQKQLL NESQQKIESQ RMLYDAQLSE EQGRNLELQV LLESEKVRIR EMSSTLDRER ELHAQLQSSD GTGQSRPPLP SEDLLKELQK QLEEKHSRIV ELLNETEKYK LDSLQTRQQM EKDRQVHRKT LQTEQEANTE GQKKMHELQS KVEDLQRQLE EKRQQVYKLD LEGQRLQGIM QEFQKQELER EEKRESRRIL YQNLNEPTTW SLTSDRTRNW VLQQKIEGET KESNYAKLIE MNGGGTGCNH ELEMIRQKLQ CVASKLQVLP QKASERLQFE TADDEDFIWV QENIDEIILQ LQKLTGQQGE EPSLVSPSTS CGSLTERLLR QNAELTGHIS QLTEEKNDLR NMVMKLEEQI RWYRQTGAGR DNSSRFSLNG GANIEAIIAS EKEVWNREKL TLQKSLKRAE AEVYKLKAEL RNDSLLQTLS PDSEHVTLKR IYGKYLRAES FRKALIYQKK YLLLLLGGFQ ECEVATLALL ARMGGQPAFT DLEVITNRPK GFTRFRSAVR VSIAISRMKF LVRRWHRVTG SVSININRDG FGLNQGAEKT DSFYHSSGGL ELYGEPRHTT YRSRSDLDYI RSPLPFQNRY PGTPADFNPG SLACSQLQNY DPDRALTDYI TRLEALQRRL GTIQSGSTTQ FHAGMRR* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 11724 / 11724 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 3908 / 3908 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 11962 / 11962 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 239 / 239 | |||||||||||||
| Last intron/exon boundary | 11924 | |||||||||||||
| Theoretical NMD boundary in CDS | 11635 | |||||||||||||
| Length of CDS | 11724 | |||||||||||||
| Coding sequence (CDS) position | 11201 | |||||||||||||
| cDNA position | 11439 | |||||||||||||
| gDNA position | 161858 | |||||||||||||
| Chromosomal position | 92102697 | |||||||||||||
| 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 | Chr7:92102697A>T (GRCh38) | |||||||||||||
| Gene symbol | AKAP9 | |||||||||||||
| Gene constraints | LOEUF: 0.66, LOF (oe): 0.59, misssense (oe): 0.92, synonymous (oe): 0.94 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000679821.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.10943A>T g.161858A>T | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 7 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | TGGGTTCCAGGAATGTGAAGATGCCACCTTGGCCCTGCTTG | |||||||||||||
| Altered gDNA sequence snippet | TGGGTTCCAGGAATGTGAAGTTGCCACCTTGGCCCTGCTTG | |||||||||||||
| Original cDNA sequence snippet | TGGGTTCCAGGAATGTGAAGATGCCACCTTGGCCCTGCTTG | |||||||||||||
| Altered cDNA sequence snippet | TGGGTTCCAGGAATGTGAAGTTGCCACCTTGGCCCTGCTTG | |||||||||||||
| Wildtype AA sequence | MEDEERQKKL EAGKAKLESE ISTTADDCSS EVNGCSFVMR TGKPTNLLRE EEFGVDDSYS EQGAQDSPTH LEMMESELAG KQHEIEELNR ELEEMRVTYG TEGLQQLQEF EAAIKQRDGI ITQLTANLQQ ARREKDETMR EFLELTEQSQ KLQIQFQQLQ ASETLRNSTH SSTAADLLQA KQQILTHQQQ LEEQDHLLED YQKKKEDFTM QISFLQEKIK VYEMEQDKKV ENSNKEEIQE KETIIEELNT KIIEEEKKTL ELKDKLTTAD KLLGELQEQI VQKNQEIKNM KLELTNSKQK ERQSSEEIKQ LMGTVEELQK RNHKDSQFET DIVQRMEQET QRKLEQLRAE LDEMYGQQIV QMKQELIRQH MAQMEEMKTR HKGEMENALR SYSNITVNED QIKLMNVAIN ELNIKLQDTN SQKEKLKEEL GLILEEKCAL QRQLEDLVEE LSFSREQIQR ARQTIAEQES KLNEAHKSLS TVEDLKAEIV SASESRKELE LKHEAEVTNY KIKLEMLEKE KNAVLDRMAE SQEAELERLR TQLLFSHEEE LSKLKEDLEI EHRINIEKLK DNLGIHYKQQ IDGLQNEMSQ KIETMQFEKD NLITKQNQLI LEISKLKDLQ QSLVNSKSEE MTLQINELQK EIEILRQEEK EKGTLEQEVQ ELQLKTELLE KQMKEKENDL QEKFAQLEAE NSILKDEKKT LEDMLKIHTP VSQEERLIFL DSIKSKSKDS VWEKEIEILI EENEDLKQQC IQLNEEIEKQ RNTFSFAEKN FEVNYQELQE EYACLLKVKD DLEDSKNKQE LEYKSKLKAL NEELHLQRIN PTTVKMKSSV FDEDKTFVAE TLEMGEVVEK DTTELMEKLE VTKREKLELS QRLSDLSEQL KQKHGEISFL NEEVKSLKQE KEQVSLRCRE LEIIINHNRA ENVQSCDTQV SSLLDGVVTM TSRGAEGSVS KVNKSFGEES KIMVEDKVSF ENMTVGEESK QEQLILDHLP SVTKESSLRA TQPSENDKLQ KELNVLKSEQ NDLRLQMEAQ RICLSLVYST HVDQVREYME NEKDKALCSL KEELIFAQEE KIKELQKIHQ LELQTMKTQE TGDEGKPLHL LIGKLQKAVS EECSYFLQTL CSVLGEYYTP ALKCEVNAED KENSGDYISE NEDPELQDYR YEVQDFQENM HTLLNKVTEE YNKLLVLQTR LSKIWGQQTD GMKLEFGEEN LPKEETEFLS IHSQMTNLED IDVNHKSKLS SLQDLEKTKL EEQVQELESL ISSLQQQLKE TEQNYEAEIH CLQKRLQAVS ESTVPPSLPV DSVVITESDA QRTMYPGSCV KKNIDGTIEF SGEFGVKEET NIVKLLEKQY QEQLEEEVAK VIVSMSIAFA QQTELSRISG GKENTASSKQ AHAVCQQEQH YFNEMKLSQD QIGFQTFETV DVKFKEEFKP LSKELGEHGK EILLSNSDPH DIPESKDCVL TISEEMFSKD KTFIVRQSIH DEISVSSMDA SRQLMLNEEQ LEDMRQELVR QYQEHQQATE LLRQAHMRQM ERQREDQEQL QEEIKRLNRQ LAQRSSIDNE NLVSERERVL LEELEALKQL SLAGREKLCC ELRNSSTQTQ NGNENQGEVE EQTFKEKELD RKPEDVPPEI LSNERYALQK ANNRLLKILL EVVKTTAAVE ETIGRHVLGI LDRSSKSQSS ASLIWRSEAE ASVKSCVHEE HTRVTDESIP SYSGSDMPRN DINMWSKVTE EGTELSQRLV RSGFAGTEID PENEELMLNI SSRLQAAVEK LLEAISETSS QLEHAKVTQT ELMRESFRQK QEATESLKCQ EELRERLHEE SRAREQLAVE LSKAEGVIDG YADEKTLFER QIQEKTDIID RLEQELLCAS NRLQELEAEQ QQIQEERELL SRQKEAMKAE AGPVEQQLLQ ETEKLMKEKL EVQCQAEKVR DDLQKQVKAL EIDVEEQVSR FIELEQEKNT ELMDLRQQNQ ALEKQLEKMR KFLDEQAIDR EHERDVFQQE IQKLEQQLKV VPRFQPISEH QTREVEQLAN HLKEKTDKCS ELLLSKEQLQ RDIQERNEEI EKLEFRVREL EQALLVSADT FQKVEDRKHF GAVEAKPELS LEVQLQAERD AIDRKEKEIT NLEEQLEQFR EELENKNEEV QQLHMQLEIQ KKESTTRLQE LEQENKLFKD DMEKLGLAIK ESDAMSTQDQ HVLFGKFAQI IQEKEVEIDQ LNEQVTKLQQ QLKITTDNKV IEEKNELIRD LETQIECLMS DQECVKRNRE EEIEQLNEVI EKLQQELANI GQKTSMNAHS LSEEADSLKH QLDVVIAEKL ALEQQVETAN EEMTFMKNVL KETNFKMNQL TQELFSLKRE RESVEKIQSI PENSVNVAID HLSKDKPELE VVLTEDALKS LENQTYFKSF EENGKGSIIN LETRLLQLES TVSAKDLELT QCYKQIKDMQ EQGQFETEML QKKIVNLQKI VEEKVAAALV SQIQLEAVQE YAKFCQDNQT ISSEPERTNI QNLNQLREDE LGSDISALTL RISELESQVV EMHTSLILEK EQVEIAEKNV LEKEKKLLEL QKLLEGNEKK QREKEKKRSP QDVEVLKTTT ELFHSNEESG FFNELEALRA ESVATKAELA SYKEKAEKLQ EELLVKETNM TSLQKDLSQV RDHLAEAKEK LSILEKEDET EVQESKKACM FEPLPIKLSK SIASQTDGTL KISSSNQTPQ ILVKNAGIQI NLQSECSSEE VTEIISQFTE KIEKMQELHA AEILDMESRH ISETETLKRE HYVAVQLLKE ECGTLKAVIQ CLRSKEGSSI PELAHSDAYQ TREICSSDSG SDWGQGIYLT HSQGFDIASE GRGEESESAT DSFPKKIKGL LRAVHNEGMQ VLSLTESPYS DGEDHSIQQV SEPWLEERKA YINTISSLKD LITKMQLQRE AEVYDSSQSH ESFSDWRGEL LLALQQVFLE ERSVLLAAFR TELTALGTTD AVGLLNCLEQ RIQEQGVEYQ AAMECLQKAD RRSLLSEIQA LHAQMNGRKI TLKREQESEK PSQELLEYNI QQKQSQMLEM QVELSSMKDR ATELQEQLSS EKMVVAELKS ELAQTKLELE TTLKAQHKHL KELEAFRLEV KDKTDEVHLL NDTLASEQKK SRELQWALEK EKAKLGRSEE RDKEELEDLK FSLESQKQRN LQLNLLLEQQ KQLLNESQQK IESQRMLYDA QLSEEQGRNL ELQVLLESEK VRIREMSSTL DRERELHAQL QSSDGTGQSR PPLPSEDLLK ELQKQLEEKH SRIVELLNET EKYKLDSLQT RQQMEKDRQV HRKTLQTEQE ANTEGQKKMH ELQSKVEDLQ RQLEEKRQQV YKLDLEGQRL QGIMQEFQKQ ELEREEKRES RRILYQNLNE PTTWSLTSDR TRNWVLQQKI EGETKESNYA KLIEMNGGGT GCNHELEMIR QKLQCVASKL QVLPQKASER LQFETADDED FIWVQENIDE IILQLQKLTG QQGEEPSLVS PSTSCGSLTE RLLRQNAELT GHISQLTEEK NDLRNMVMKL EEQIRWYRQT GAGRDNSSRF SLNGGANIEA IIASEKEVWN REKLTLQKSL KRAEAEVYKL KAELRNDSLL QTLSPDSEHV TLKRIYGKYL RAESFRKALI YQKKYLLLLL GGFQECEDAT LALLARMGGQ PAFTDLEVIT NRPKGFTRFR SAVRVSIAIS RMKFLVRRWH RVTGSVSINI NRDGFGLNQG AEKTDSFYHS SGGLELYGEP RHTTYRSRSD LDYIRSPLPF QNRYPGTPAD FNPGSLACSQ LQNYDPDRAL TDYITRLEAL QRRLGTIQSG STTQFHAGMR R* | |||||||||||||
| Mutated AA sequence | MEDEERQKKL EAGKAKLESE ISTTADDCSS EVNGCSFVMR TGKPTNLLRE EEFGVDDSYS EQGAQDSPTH LEMMESELAG KQHEIEELNR ELEEMRVTYG TEGLQQLQEF EAAIKQRDGI ITQLTANLQQ ARREKDETMR EFLELTEQSQ KLQIQFQQLQ ASETLRNSTH SSTAADLLQA KQQILTHQQQ LEEQDHLLED YQKKKEDFTM QISFLQEKIK VYEMEQDKKV ENSNKEEIQE KETIIEELNT KIIEEEKKTL ELKDKLTTAD KLLGELQEQI VQKNQEIKNM KLELTNSKQK ERQSSEEIKQ LMGTVEELQK RNHKDSQFET DIVQRMEQET QRKLEQLRAE LDEMYGQQIV QMKQELIRQH MAQMEEMKTR HKGEMENALR SYSNITVNED QIKLMNVAIN ELNIKLQDTN SQKEKLKEEL GLILEEKCAL QRQLEDLVEE LSFSREQIQR ARQTIAEQES KLNEAHKSLS TVEDLKAEIV SASESRKELE LKHEAEVTNY KIKLEMLEKE KNAVLDRMAE SQEAELERLR TQLLFSHEEE LSKLKEDLEI EHRINIEKLK DNLGIHYKQQ IDGLQNEMSQ KIETMQFEKD NLITKQNQLI LEISKLKDLQ QSLVNSKSEE MTLQINELQK EIEILRQEEK EKGTLEQEVQ ELQLKTELLE KQMKEKENDL QEKFAQLEAE NSILKDEKKT LEDMLKIHTP VSQEERLIFL DSIKSKSKDS VWEKEIEILI EENEDLKQQC IQLNEEIEKQ RNTFSFAEKN FEVNYQELQE EYACLLKVKD DLEDSKNKQE LEYKSKLKAL NEELHLQRIN PTTVKMKSSV FDEDKTFVAE TLEMGEVVEK DTTELMEKLE VTKREKLELS QRLSDLSEQL KQKHGEISFL NEEVKSLKQE KEQVSLRCRE LEIIINHNRA ENVQSCDTQV SSLLDGVVTM TSRGAEGSVS KVNKSFGEES KIMVEDKVSF ENMTVGEESK QEQLILDHLP SVTKESSLRA TQPSENDKLQ KELNVLKSEQ NDLRLQMEAQ RICLSLVYST HVDQVREYME NEKDKALCSL KEELIFAQEE KIKELQKIHQ LELQTMKTQE TGDEGKPLHL LIGKLQKAVS EECSYFLQTL CSVLGEYYTP ALKCEVNAED KENSGDYISE NEDPELQDYR YEVQDFQENM HTLLNKVTEE YNKLLVLQTR LSKIWGQQTD GMKLEFGEEN LPKEETEFLS IHSQMTNLED IDVNHKSKLS SLQDLEKTKL EEQVQELESL ISSLQQQLKE TEQNYEAEIH CLQKRLQAVS ESTVPPSLPV DSVVITESDA QRTMYPGSCV KKNIDGTIEF SGEFGVKEET NIVKLLEKQY QEQLEEEVAK VIVSMSIAFA QQTELSRISG GKENTASSKQ AHAVCQQEQH YFNEMKLSQD QIGFQTFETV DVKFKEEFKP LSKELGEHGK EILLSNSDPH DIPESKDCVL TISEEMFSKD KTFIVRQSIH DEISVSSMDA SRQLMLNEEQ LEDMRQELVR QYQEHQQATE LLRQAHMRQM ERQREDQEQL QEEIKRLNRQ LAQRSSIDNE NLVSERERVL LEELEALKQL SLAGREKLCC ELRNSSTQTQ NGNENQGEVE EQTFKEKELD RKPEDVPPEI LSNERYALQK ANNRLLKILL EVVKTTAAVE ETIGRHVLGI LDRSSKSQSS ASLIWRSEAE ASVKSCVHEE HTRVTDESIP SYSGSDMPRN DINMWSKVTE EGTELSQRLV RSGFAGTEID PENEELMLNI SSRLQAAVEK LLEAISETSS QLEHAKVTQT ELMRESFRQK QEATESLKCQ EELRERLHEE SRAREQLAVE LSKAEGVIDG YADEKTLFER QIQEKTDIID RLEQELLCAS NRLQELEAEQ QQIQEERELL SRQKEAMKAE AGPVEQQLLQ ETEKLMKEKL EVQCQAEKVR DDLQKQVKAL EIDVEEQVSR FIELEQEKNT ELMDLRQQNQ ALEKQLEKMR KFLDEQAIDR EHERDVFQQE IQKLEQQLKV VPRFQPISEH QTREVEQLAN HLKEKTDKCS ELLLSKEQLQ RDIQERNEEI EKLEFRVREL EQALLVSADT FQKVEDRKHF GAVEAKPELS LEVQLQAERD AIDRKEKEIT NLEEQLEQFR EELENKNEEV QQLHMQLEIQ KKESTTRLQE LEQENKLFKD DMEKLGLAIK ESDAMSTQDQ HVLFGKFAQI IQEKEVEIDQ LNEQVTKLQQ QLKITTDNKV IEEKNELIRD LETQIECLMS DQECVKRNRE EEIEQLNEVI EKLQQELANI GQKTSMNAHS LSEEADSLKH QLDVVIAEKL ALEQQVETAN EEMTFMKNVL KETNFKMNQL TQELFSLKRE RESVEKIQSI PENSVNVAID HLSKDKPELE VVLTEDALKS LENQTYFKSF EENGKGSIIN LETRLLQLES TVSAKDLELT QCYKQIKDMQ EQGQFETEML QKKIVNLQKI VEEKVAAALV SQIQLEAVQE YAKFCQDNQT ISSEPERTNI QNLNQLREDE LGSDISALTL RISELESQVV EMHTSLILEK EQVEIAEKNV LEKEKKLLEL QKLLEGNEKK QREKEKKRSP QDVEVLKTTT ELFHSNEESG FFNELEALRA ESVATKAELA SYKEKAEKLQ EELLVKETNM TSLQKDLSQV RDHLAEAKEK LSILEKEDET EVQESKKACM FEPLPIKLSK SIASQTDGTL KISSSNQTPQ ILVKNAGIQI NLQSECSSEE VTEIISQFTE KIEKMQELHA AEILDMESRH ISETETLKRE HYVAVQLLKE ECGTLKAVIQ CLRSKEGSSI PELAHSDAYQ TREICSSDSG SDWGQGIYLT HSQGFDIASE GRGEESESAT DSFPKKIKGL LRAVHNEGMQ VLSLTESPYS DGEDHSIQQV SEPWLEERKA YINTISSLKD LITKMQLQRE AEVYDSSQSH ESFSDWRGEL LLALQQVFLE ERSVLLAAFR TELTALGTTD AVGLLNCLEQ RIQEQGVEYQ AAMECLQKAD RRSLLSEIQA LHAQMNGRKI TLKREQESEK PSQELLEYNI QQKQSQMLEM QVELSSMKDR ATELQEQLSS EKMVVAELKS ELAQTKLELE TTLKAQHKHL KELEAFRLEV KDKTDEVHLL NDTLASEQKK SRELQWALEK EKAKLGRSEE RDKEELEDLK FSLESQKQRN LQLNLLLEQQ KQLLNESQQK IESQRMLYDA QLSEEQGRNL ELQVLLESEK VRIREMSSTL DRERELHAQL QSSDGTGQSR PPLPSEDLLK ELQKQLEEKH SRIVELLNET EKYKLDSLQT RQQMEKDRQV HRKTLQTEQE ANTEGQKKMH ELQSKVEDLQ RQLEEKRQQV YKLDLEGQRL QGIMQEFQKQ ELEREEKRES RRILYQNLNE PTTWSLTSDR TRNWVLQQKI EGETKESNYA KLIEMNGGGT GCNHELEMIR QKLQCVASKL QVLPQKASER LQFETADDED FIWVQENIDE IILQLQKLTG QQGEEPSLVS PSTSCGSLTE RLLRQNAELT GHISQLTEEK NDLRNMVMKL EEQIRWYRQT GAGRDNSSRF SLNGGANIEA IIASEKEVWN REKLTLQKSL KRAEAEVYKL KAELRNDSLL QTLSPDSEHV TLKRIYGKYL RAESFRKALI YQKKYLLLLL GGFQECEVAT LALLARMGGQ PAFTDLEVIT NRPKGFTRFR SAVRVSIAIS RMKFLVRRWH RVTGSVSINI NRDGFGLNQG AEKTDSFYHS SGGLELYGEP RHTTYRSRSD LDYIRSPLPF QNRYPGTPAD FNPGSLACSQ LQNYDPDRAL TDYITRLEAL QRRLGTIQSG STTQFHAGMR R* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 11466 / 11466 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 3822 / 3822 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 11706 / 11706 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 241 / 241 | |||||||||||||
| Last intron/exon boundary | 11668 | |||||||||||||
| Theoretical NMD boundary in CDS | 11377 | |||||||||||||
| Length of CDS | 11466 | |||||||||||||
| Coding sequence (CDS) position | 10943 | |||||||||||||
| cDNA position | 11183 | |||||||||||||
| gDNA position | 161858 | |||||||||||||
| Chromosomal position | 92102697 | |||||||||||||
| 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 | Chr7:92102697A>T (GRCh38) | |||||||||||||
| Gene symbol | AKAP9 | |||||||||||||
| Gene constraints | LOEUF: 0.70, LOF (oe): 0.62, misssense (oe): 0.91, synonymous (oe): 0.92 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000491695.2 | |||||||||||||
| Genbank transcript ID | NM_001379277 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.5846A>T g.161858A>T | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 7 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | TGGGTTCCAGGAATGTGAAGATGCCACCTTGGCCCTGCTTG | |||||||||||||
| Altered gDNA sequence snippet | TGGGTTCCAGGAATGTGAAGTTGCCACCTTGGCCCTGCTTG | |||||||||||||
| Original cDNA sequence snippet | TGGGTTCCAGGAATGTGAAGATGCCACCTTGGCCCTGCTTG | |||||||||||||
| Altered cDNA sequence snippet | TGGGTTCCAGGAATGTGAAGTTGCCACCTTGGCCCTGCTTG | |||||||||||||
| Wildtype AA sequence | MDSYSTYLAT VKVSGSWLEE QDEDIYEVES RVPLPHPFPL CEHLDENNSV IVNTSIFHFI HKRNGHILKL ISKISLPTPP YSLEHAKVTQ TELMRESFRQ KQEATESLKC QEELRERLHE ESRAREQLAV ELSKAEGVID GYADEKTLFE RQIQEKTDII DRLEQELLCA SNRLQELEAE QQQIQEEREL LSRQKEAMKA EAGPVEQQLL QETEKLMKEK LEVQCQAEKV RDDLQKQVKA LEIDVEEQVS RFIELEQEKN TELMDLRQQN QALEKQLEKM RKFLDEQAID REHERDVFQQ EIQKLEQQLK VVPRFQPISE HQTREVEQLA NHLKEKTDKC SELLLSKEQL QRDIQERNEE IEKLEFRVRE LEQALLVSAD TFQKVEDRKH FGAVEAKPEL SLEVQLQAER DAIDRKEKEI TNLEEQLEQF REELENKNEE VQQLHMQLEI QKKESTTRLQ ELEQENKLFK DDMEKLGLAI KESDAMSTQD QHVLFGKFAQ IIQEKEVEID QLNEQVTKLQ QQLKITTDNK VIEEKNELIR DLETQIECLM SDQECVKRNR EEEIEQLNEV IEKLQQELAN IGQKTSMNAH SLSEEADSLK HQLDVVIAEK LALEQQVETA NEEMTFMKNV LKETNFKMNQ LTQELFSLKR ERESVEKIQS IPENSVNVAI DHLSKDKPEL EVVLTEDALK SLENQTYFKS FEENGKGSII NLETRLLQLE STVSAKDLEL TQCYKQIKDM QEQGQFETEM LQKKIVNLQK IVEEKVAAAL VSQIQLEAVQ EYAKFCQDNQ TISSEPERTN IQNLNQLRED ELGSDISALT LRISELESQV VEMHTSLILE KEQVEIAEKN VLEKEKKLLE LQKLLEGNEK KQREKEKKRS PQDVEVLKTT TELFHSNEES GFFNELEALR AESVATKAEL ASYKEKAEKL QEELLVKETN MTSLQKDLSQ VRDHLAEAKE KLSILEKEDE TEVQESKKAC MFEPLPIKLS KSIASQTDGT LKISSSNQTP QILVKNAGIQ INLQSECSSE EVTEIISQFT EKIEKMQELH AAEILDMESR HISETETLKR EHYVAVQLLK EECGTLKAVI QCLRSKEGSS IPELAHSDAY QTREICSSDS GSDWGQGIYL THSQGFDIAS EGRGEESESA TDSFPKKIKG LLRAVHNEGM QVLSLTESPY SDGEDHSIQQ VSEPWLEERK AYINTISSLK DLITKMQLQR EAEVYDSSQS HESFSDWRGE LLLALQQVFL EERSVLLAAF RTELTALGTT DAVGLLNCLE QRIQEQGVEY QAAMECLQKA DRRSLLSEIQ ALHAQMNGRK ITLKREQESE KPSQELLEYN IQQKQSQMLE MQVELSSMKD RATELQEQLS SEKMVVAELK SELAQTKLEL ETTLKAQHKH LKELEAFRLE VKDKTDEVHL LNDTLASEQK KSRELQWALE KEKAKLGRSE ERDKEELEDL KFSLESQKQR NLQLNLLLEQ QKQLLNESQQ KIESQRMLYD AQLSEEQGRN LELQVLLESE KVRIREMSST LDRERELHAQ LQSSDGTGQS RPPLPSEDLL KELQKQLEEK HSRIVELLNE TEKYKLDSLQ TRQQMEKDRQ VHRKTLQTEQ EANTEGQKKM HELQSKVEDL QRQLEEKRQQ VYKLDLEGQR LQGIMQEFQK QELEREEKRE SRRILYQNLN EPTTWSLTSD RTRNWVLQQK IEGETKESNY AKLIEMNGGG TGCNHELEMI RQKLQCVASK LQVLPQKASE RLQFETADDE DFIWVQENID EIILQLQKLT GQQGEEPSLV SPSTSCGSLT ERLLRQNAEL TGHISQLTEE KNDLRNMVMK LEEQIRWYRQ TGAGRDNSSR FSLNGGANIE AIIASEKEVW NREKLTLQKS LKRAEAEVYK LKAELRNDSL LQTLSPDSEH VTLKRIYGKY LRAESFRKAL IYQKKYLLLL LGGFQECEDA TLALLARMGG QPAFTDLEVI TNRPKGFTRF RSAVRVSIAI SRMKFLVRRW HRVTGSVSIN INRDGFGLNQ GAEKTDSFYH SSGGLELYGE PRHTTYRSRS DLDYIRSPLP FQNRYPGTPA DFNPGSLACS QLQNYDPDRA LTDYITRLEA LQRRLGTIQS GSTTQFHAGM RR* | |||||||||||||
| Mutated AA sequence | MDSYSTYLAT VKVSGSWLEE QDEDIYEVES RVPLPHPFPL CEHLDENNSV IVNTSIFHFI HKRNGHILKL ISKISLPTPP YSLEHAKVTQ TELMRESFRQ KQEATESLKC QEELRERLHE ESRAREQLAV ELSKAEGVID GYADEKTLFE RQIQEKTDII DRLEQELLCA SNRLQELEAE QQQIQEEREL LSRQKEAMKA EAGPVEQQLL QETEKLMKEK LEVQCQAEKV RDDLQKQVKA LEIDVEEQVS RFIELEQEKN TELMDLRQQN QALEKQLEKM RKFLDEQAID REHERDVFQQ EIQKLEQQLK VVPRFQPISE HQTREVEQLA NHLKEKTDKC SELLLSKEQL QRDIQERNEE IEKLEFRVRE LEQALLVSAD TFQKVEDRKH FGAVEAKPEL SLEVQLQAER DAIDRKEKEI TNLEEQLEQF REELENKNEE VQQLHMQLEI QKKESTTRLQ ELEQENKLFK DDMEKLGLAI KESDAMSTQD QHVLFGKFAQ IIQEKEVEID QLNEQVTKLQ QQLKITTDNK VIEEKNELIR DLETQIECLM SDQECVKRNR EEEIEQLNEV IEKLQQELAN IGQKTSMNAH SLSEEADSLK HQLDVVIAEK LALEQQVETA NEEMTFMKNV LKETNFKMNQ LTQELFSLKR ERESVEKIQS IPENSVNVAI DHLSKDKPEL EVVLTEDALK SLENQTYFKS FEENGKGSII NLETRLLQLE STVSAKDLEL TQCYKQIKDM QEQGQFETEM LQKKIVNLQK IVEEKVAAAL VSQIQLEAVQ EYAKFCQDNQ TISSEPERTN IQNLNQLRED ELGSDISALT LRISELESQV VEMHTSLILE KEQVEIAEKN VLEKEKKLLE LQKLLEGNEK KQREKEKKRS PQDVEVLKTT TELFHSNEES GFFNELEALR AESVATKAEL ASYKEKAEKL QEELLVKETN MTSLQKDLSQ VRDHLAEAKE KLSILEKEDE TEVQESKKAC MFEPLPIKLS KSIASQTDGT LKISSSNQTP QILVKNAGIQ INLQSECSSE EVTEIISQFT EKIEKMQELH AAEILDMESR HISETETLKR EHYVAVQLLK EECGTLKAVI QCLRSKEGSS IPELAHSDAY QTREICSSDS GSDWGQGIYL THSQGFDIAS EGRGEESESA TDSFPKKIKG LLRAVHNEGM QVLSLTESPY SDGEDHSIQQ VSEPWLEERK AYINTISSLK DLITKMQLQR EAEVYDSSQS HESFSDWRGE LLLALQQVFL EERSVLLAAF RTELTALGTT DAVGLLNCLE QRIQEQGVEY QAAMECLQKA DRRSLLSEIQ ALHAQMNGRK ITLKREQESE KPSQELLEYN IQQKQSQMLE MQVELSSMKD RATELQEQLS SEKMVVAELK SELAQTKLEL ETTLKAQHKH LKELEAFRLE VKDKTDEVHL LNDTLASEQK KSRELQWALE KEKAKLGRSE ERDKEELEDL KFSLESQKQR NLQLNLLLEQ QKQLLNESQQ KIESQRMLYD AQLSEEQGRN LELQVLLESE KVRIREMSST LDRERELHAQ LQSSDGTGQS RPPLPSEDLL KELQKQLEEK HSRIVELLNE TEKYKLDSLQ TRQQMEKDRQ VHRKTLQTEQ EANTEGQKKM HELQSKVEDL QRQLEEKRQQ VYKLDLEGQR LQGIMQEFQK QELEREEKRE SRRILYQNLN EPTTWSLTSD RTRNWVLQQK IEGETKESNY AKLIEMNGGG TGCNHELEMI RQKLQCVASK LQVLPQKASE RLQFETADDE DFIWVQENID EIILQLQKLT GQQGEEPSLV SPSTSCGSLT ERLLRQNAEL TGHISQLTEE KNDLRNMVMK LEEQIRWYRQ TGAGRDNSSR FSLNGGANIE AIIASEKEVW NREKLTLQKS LKRAEAEVYK LKAELRNDSL LQTLSPDSEH VTLKRIYGKY LRAESFRKAL IYQKKYLLLL LGGFQECEVA TLALLARMGG QPAFTDLEVI TNRPKGFTRF RSAVRVSIAI SRMKFLVRRW HRVTGSVSIN INRDGFGLNQ GAEKTDSFYH SSGGLELYGE PRHTTYRSRS DLDYIRSPLP FQNRYPGTPA DFNPGSLACS QLQNYDPDRA LTDYITRLEA LQRRLGTIQS GSTTQFHAGM RR* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 6369 / 6369 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2123 / 2123 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 6912 / 6912 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 544 / 544 | |||||||||||||
| Last intron/exon boundary | 6874 | |||||||||||||
| Theoretical NMD boundary in CDS | 6280 | |||||||||||||
| Length of CDS | 6369 | |||||||||||||
| Coding sequence (CDS) position | 5846 | |||||||||||||
| cDNA position | 6389 | |||||||||||||
| gDNA position | 161858 | |||||||||||||
| Chromosomal position | 92102697 | |||||||||||||
| 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 | Chr7:92102697A>T (GRCh38) | |||||||||||||
| Gene symbol | AKAP9 | |||||||||||||
| Gene constraints | LOEUF: 0.67, LOF (oe): 0.60, misssense (oe): 0.91, synonymous (oe): 0.94 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000680513.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.11060A>T g.161858A>T | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 7 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | TGGGTTCCAGGAATGTGAAGATGCCACCTTGGCCCTGCTTG | |||||||||||||
| Altered gDNA sequence snippet | TGGGTTCCAGGAATGTGAAGTTGCCACCTTGGCCCTGCTTG | |||||||||||||
| Original cDNA sequence snippet | TGGGTTCCAGGAATGTGAAGATGCCACCTTGGCCCTGCTTG | |||||||||||||
| Altered cDNA sequence snippet | TGGGTTCCAGGAATGTGAAGTTGCCACCTTGGCCCTGCTTG | |||||||||||||
| Wildtype AA sequence | MEDEERQKKL EAGKAKLAQF RQRKAQSDGQ SPSKKQKKKR KTSSSKHDVS AHHDLNIDQS QCNEMYINSS QRVESTVIPE STIMRTLHSG EITSHEQGFS VELESEISTT ADDCSSEVNG CSFVMRTGKP TNLLREEEFG VDDSYSEQGA QDSPTHLEMM ESELAGKQHE IEELNRELEE MRVTYGTEGL QQLQEFEAAI KQRDGIITQL TANLQQARRE KDETMREFLE LTEQSQKLQI QFQQLQASET LRNSTHSSTA ADLLQAKQQI LTHQQQLEEQ DHLLEDYQKK KEDFTMQISF LQEKIKVYEM EQDKKVENSN KEEIQEKETI IEELNTKIIE EEKKTLELKD KLTTADKLLG ELQEQIVQKN QEIKNMKLEL TNSKQKERQS SEEIKQLMGT VEELQKRNHK DSQFETDIVQ RMEQETQRKL EQLRAELDEM YGQQIVQMKQ ELIRQHMAQM EEMKTRHKGE MENALRSYSN ITVNEDQIKL MNVAINELNI KLQDTNSQKE KLKEELGLIL EEKCALQRQL EDLVEELSFS REQIQRARQT IAEQESKLNE AHKSLSTVED LKAEIVSASE SRKELELKHE AEVTNYKIKL EMLEKEKNAV LDRMAESQEA ELERLRTQLL FSHEEELSKL KEDLEIEHRI NIEKLKDNLG IHYKQQIDGL QNEMSQKIET MQFEKDNLIT KQNQLILEIS KLKDLQQSLV NSKSEEMTLQ INELQKEIEI LRQEEKEKGT LEQEVQELQL KTELLEKQMK EKENDLQEKF AQLEAENSIL KDEKKTLEDM LKIHTPVSQE ERLIFLDSIK SKSKDSVWEK EIEILIEENE DLKQQCIQLN EEIEKQRNTF SFAEKNFEVN YQELQEEYAC LLKVKDDLED SKNKQELEYK SKLKALNEEL HLQRINPTTV KMKSSVFDED KTFVAETLEM GEVVEKDTTE LMEKLEVTKR EKLELSQRLS DLSEQLKQKH GEISFLNEEV KSLKQEKEQV SLRCRELEII INHNRAENVQ SCDTQVSSLL DGVVTMTSRG AEGSVSKVNK SFGEESKIMV EDKVSFENMT VGEESKQEQL ILDHLPSVTK ESSLRATQPS ENDKLQKELN VLKSEQNDLR LQMEAQRICL SLVYSTHVDQ VREYMENEKD KALCSLKEEL IFAQEEKIKE LQKIHQLELQ TMKTQETGDE GKPLHLLIGK LQKAVSEECS YFLQTLCSVL GEYYTPALKC EVNAEDKENS GDYISENEDP ELQDYRYEVQ DFQENMHTLL NKVTEEYNKL LVLQTRLSKI WGQQTDGMKL EFGEENLPKE ETEFLSIHSQ MTNLEDIDVN HKSKLSSLQD LEKTKLEEQV QELESLISSL QQQLKETEQN YEAEIHCLQK RLQAVSESTV PPSLPVDSVV ITESDAQRTM YPGSCVKKNI DGTIEFSGEF GVKEETNIVK LLEKQYQEQL EEEVAKVIVS MSIAFAQQTE LSRISGGKEN TASSKQAHAV CQQEQHYFNE MKLSQDQIGF QTFETVDVKF KEEFKPLSKE LGEHGKEILL SNSDPHDIPE SKDCVLTISE EMFSKDKTFI VRQSIHDEIS VSSMDASRQL MLNEEQLEDM RQELVRQYQE HQQATELLRQ AHMRQMERQR EDQEQLQEEI KRLNRQLAQN GNENQGEVEE QTFKEKELDR KPEDVPPEIL SNERYALQKA NNRLLKILLE VVKTTAAVEE TIGRHVLGIL DRSSKSQSSA SLIWRSEAEA SVKSCVHEEH TRVTDESIPS YSGSDMPRND INMWSKVTEE GTELSQRLVR SGFAGTEIDP ENEELMLNIS SRLQAAVEKL LEAISETSSQ LEHAKVTQTE LMRESFRQKQ EATESLKCQE ELRERLHEES RAREQLAVEL SKAEGVIDGY ADEKTLFERQ IQEKTDIIDR LEQELLCASN RLQELEAEQQ QIQEERELLS RQKEAMKAEA GPVEQQLLQE TEKLMKEKLE VQCQAEKVRD DLQKQVKALE IDVEEQVSRF IELEQEKNTE LMDLRQQNQA LEKQLEKMRK FLDEQAIDRE HERDVFQQEI QKLEQQLKVV PRFQPISEHQ TREVEQLANH LKEKTDKCSE LLLSKEQLQR DIQERNEEIE KLEFRVRELE QALLVSADTF QKVEDRKHFG AVEAKPELSL EVQLQAERDA IDRKEKEITN LEEQLEQFRE ELENKNEEVQ QLHMQLEIQK KESTTRLQEL EQENKLFKDD MEKLGLAIKE SDAMSTQDQH VLFGKFAQII QEKEVEIDQL NEQVTKLQQQ LKITTDNKVI EEKNELIRDL ETQIECLMSD QECVKRNREE EIEQLNEVIE KLQQELANIG QKTSMNAHSL SEEADSLKHQ LDVVIAEKLA LEQQVETANE EMTFMKNVLK ETNFKMNQLT QELFSLKRER ESVEKIQSIP ENSVNVAIDH LSKDKPELEV VLTEDALKSL ENQTYFKSFE ENGKGSIINL ETRLLQLEST VSAKDLELTQ CYKQIKDMQE QGQFETEMLQ KKIVNLQKIV EEKVAAALVS QIQLEAVQEY AKFCQDNQTI SSEPERTNIQ NLNQLREDEL GSDISALTLR ISELESQVVE MHTSLILEKE QVEIAEKNVL EKEKKLLELQ KLLEGNEKKQ REKEKKRSPQ DVEVLKTTTE LFHSNEESGF FNELEALRAE SVATKAELAS YKEKAEKLQE ELLVKETNMT SLQKDLSQVR DHLAEAKEKL SILEKEDETE VQESKKACMF EPLPIKLSKS IASQTDGTLK ISSSNQTPQI LVKNAGIQIN LQSECSSEEV TEIISQFTEK IEKMQELHAA EILDMESRHI SETETLKREH YVAVQLLKEE CGTLKAVIQC LRSKEGSSIP ELAHSDAYQT REICSSDSGS DWGQGIYLTH SQGFDIASEG RGEESESATD SFPKKIKGLL RAVHNEGMQV LSLTESPYSD GEDHSIQQVS EPWLEERKAY INTISSLKDL ITKMQLQREA EVYDSSQSHE SFSDWRGELL LALQQVFLEE RSVLLAAFRT ELTALGTTDA VGLLNCLEQR IQEQGVEYQA AMECLQKADR RSLLSEIQAL HAQMNGRKIT LKREQESEKP SQELLEYNIQ QKQSQMLEMQ VELSSMKDRA TELQEQLSSE KMVVAELKSE LAQTKLELET TLKAQHKHLK ELEAFRLEVK DKTDEVHLLN DTLASEQKKS RELQWALEKE KAKLGRSEER DKEELEDLKF SLESQKQRNL QLNLLLEQQK QLLNESQQKI ESQRMLYDAQ LSEEQGRNLE LQVLLESEKV RIREMSSTLD RERELHAQLQ SSDGTGQSRP PLPSEDLLKE LQKQLEEKHS RIVELLNETE KYKLDSLQTR QQMEKDRQVH RKTLQTEQEA NTEGQKKMHE LQSKVEDLQR QLEEKRQQVY KLDLEGQRLQ GIMQEFQKQE LEREEKRESR RILYQNLNEP TTWSLTSDRT RNWVLQQKIE GETKESNYAK LIEMNGGGTG CNHELEMIRQ KLQCVASKLQ VLPQKASERL QFETADDEDF IWVQENIDEI ILQLQKLTGQ QGEEPSLVSP STSCGSLTER LLRQNAELTG HISQLTEEKN DLRNMVMKLE EQIRWYRQTG AGRDNSSRFS LNGGANIEAI IASEKEVWNR EKLTLQKSLK RAEAEVYKLK AELRNDSLLQ TLSPDSEHVT LKRIYGKYLR AESFRKALIY QKKYLLLLLG GFQECEDATL ALLARMGGQP AFTDLEVITN RPKGFTRFRS AVRVSIAISR MKFLVRRWHR VTGSVSININ RDGFGLNQGA EKTDSFYHSS GGLELYGEPR HTTYRSRSDL DYIRSPLPFQ NRYPGTPADF NPGSLACSQL QNYDPDRALT DYITRLEALQ RRLGTIQSGS TTQFHAGMRR * | |||||||||||||
| Mutated AA sequence | MEDEERQKKL EAGKAKLAQF RQRKAQSDGQ SPSKKQKKKR KTSSSKHDVS AHHDLNIDQS QCNEMYINSS QRVESTVIPE STIMRTLHSG EITSHEQGFS VELESEISTT ADDCSSEVNG CSFVMRTGKP TNLLREEEFG VDDSYSEQGA QDSPTHLEMM ESELAGKQHE IEELNRELEE MRVTYGTEGL QQLQEFEAAI KQRDGIITQL TANLQQARRE KDETMREFLE LTEQSQKLQI QFQQLQASET LRNSTHSSTA ADLLQAKQQI LTHQQQLEEQ DHLLEDYQKK KEDFTMQISF LQEKIKVYEM EQDKKVENSN KEEIQEKETI IEELNTKIIE EEKKTLELKD KLTTADKLLG ELQEQIVQKN QEIKNMKLEL TNSKQKERQS SEEIKQLMGT VEELQKRNHK DSQFETDIVQ RMEQETQRKL EQLRAELDEM YGQQIVQMKQ ELIRQHMAQM EEMKTRHKGE MENALRSYSN ITVNEDQIKL MNVAINELNI KLQDTNSQKE KLKEELGLIL EEKCALQRQL EDLVEELSFS REQIQRARQT IAEQESKLNE AHKSLSTVED LKAEIVSASE SRKELELKHE AEVTNYKIKL EMLEKEKNAV LDRMAESQEA ELERLRTQLL FSHEEELSKL KEDLEIEHRI NIEKLKDNLG IHYKQQIDGL QNEMSQKIET MQFEKDNLIT KQNQLILEIS KLKDLQQSLV NSKSEEMTLQ INELQKEIEI LRQEEKEKGT LEQEVQELQL KTELLEKQMK EKENDLQEKF AQLEAENSIL KDEKKTLEDM LKIHTPVSQE ERLIFLDSIK SKSKDSVWEK EIEILIEENE DLKQQCIQLN EEIEKQRNTF SFAEKNFEVN YQELQEEYAC LLKVKDDLED SKNKQELEYK SKLKALNEEL HLQRINPTTV KMKSSVFDED KTFVAETLEM GEVVEKDTTE LMEKLEVTKR EKLELSQRLS DLSEQLKQKH GEISFLNEEV KSLKQEKEQV SLRCRELEII INHNRAENVQ SCDTQVSSLL DGVVTMTSRG AEGSVSKVNK SFGEESKIMV EDKVSFENMT VGEESKQEQL ILDHLPSVTK ESSLRATQPS ENDKLQKELN VLKSEQNDLR LQMEAQRICL SLVYSTHVDQ VREYMENEKD KALCSLKEEL IFAQEEKIKE LQKIHQLELQ TMKTQETGDE GKPLHLLIGK LQKAVSEECS YFLQTLCSVL GEYYTPALKC EVNAEDKENS GDYISENEDP ELQDYRYEVQ DFQENMHTLL NKVTEEYNKL LVLQTRLSKI WGQQTDGMKL EFGEENLPKE ETEFLSIHSQ MTNLEDIDVN HKSKLSSLQD LEKTKLEEQV QELESLISSL QQQLKETEQN YEAEIHCLQK RLQAVSESTV PPSLPVDSVV ITESDAQRTM YPGSCVKKNI DGTIEFSGEF GVKEETNIVK LLEKQYQEQL EEEVAKVIVS MSIAFAQQTE LSRISGGKEN TASSKQAHAV CQQEQHYFNE MKLSQDQIGF QTFETVDVKF KEEFKPLSKE LGEHGKEILL SNSDPHDIPE SKDCVLTISE EMFSKDKTFI VRQSIHDEIS VSSMDASRQL MLNEEQLEDM RQELVRQYQE HQQATELLRQ AHMRQMERQR EDQEQLQEEI KRLNRQLAQN GNENQGEVEE QTFKEKELDR KPEDVPPEIL SNERYALQKA NNRLLKILLE VVKTTAAVEE TIGRHVLGIL DRSSKSQSSA SLIWRSEAEA SVKSCVHEEH TRVTDESIPS YSGSDMPRND INMWSKVTEE GTELSQRLVR SGFAGTEIDP ENEELMLNIS SRLQAAVEKL LEAISETSSQ LEHAKVTQTE LMRESFRQKQ EATESLKCQE ELRERLHEES RAREQLAVEL SKAEGVIDGY ADEKTLFERQ IQEKTDIIDR LEQELLCASN RLQELEAEQQ QIQEERELLS RQKEAMKAEA GPVEQQLLQE TEKLMKEKLE VQCQAEKVRD DLQKQVKALE IDVEEQVSRF IELEQEKNTE LMDLRQQNQA LEKQLEKMRK FLDEQAIDRE HERDVFQQEI QKLEQQLKVV PRFQPISEHQ TREVEQLANH LKEKTDKCSE LLLSKEQLQR DIQERNEEIE KLEFRVRELE QALLVSADTF QKVEDRKHFG AVEAKPELSL EVQLQAERDA IDRKEKEITN LEEQLEQFRE ELENKNEEVQ QLHMQLEIQK KESTTRLQEL EQENKLFKDD MEKLGLAIKE SDAMSTQDQH VLFGKFAQII QEKEVEIDQL NEQVTKLQQQ LKITTDNKVI EEKNELIRDL ETQIECLMSD QECVKRNREE EIEQLNEVIE KLQQELANIG QKTSMNAHSL SEEADSLKHQ LDVVIAEKLA LEQQVETANE EMTFMKNVLK ETNFKMNQLT QELFSLKRER ESVEKIQSIP ENSVNVAIDH LSKDKPELEV VLTEDALKSL ENQTYFKSFE ENGKGSIINL ETRLLQLEST VSAKDLELTQ CYKQIKDMQE QGQFETEMLQ KKIVNLQKIV EEKVAAALVS QIQLEAVQEY AKFCQDNQTI SSEPERTNIQ NLNQLREDEL GSDISALTLR ISELESQVVE MHTSLILEKE QVEIAEKNVL EKEKKLLELQ KLLEGNEKKQ REKEKKRSPQ DVEVLKTTTE LFHSNEESGF FNELEALRAE SVATKAELAS YKEKAEKLQE ELLVKETNMT SLQKDLSQVR DHLAEAKEKL SILEKEDETE VQESKKACMF EPLPIKLSKS IASQTDGTLK ISSSNQTPQI LVKNAGIQIN LQSECSSEEV TEIISQFTEK IEKMQELHAA EILDMESRHI SETETLKREH YVAVQLLKEE CGTLKAVIQC LRSKEGSSIP ELAHSDAYQT REICSSDSGS DWGQGIYLTH SQGFDIASEG RGEESESATD SFPKKIKGLL RAVHNEGMQV LSLTESPYSD GEDHSIQQVS EPWLEERKAY INTISSLKDL ITKMQLQREA EVYDSSQSHE SFSDWRGELL LALQQVFLEE RSVLLAAFRT ELTALGTTDA VGLLNCLEQR IQEQGVEYQA AMECLQKADR RSLLSEIQAL HAQMNGRKIT LKREQESEKP SQELLEYNIQ QKQSQMLEMQ VELSSMKDRA TELQEQLSSE KMVVAELKSE LAQTKLELET TLKAQHKHLK ELEAFRLEVK DKTDEVHLLN DTLASEQKKS RELQWALEKE KAKLGRSEER DKEELEDLKF SLESQKQRNL QLNLLLEQQK QLLNESQQKI ESQRMLYDAQ LSEEQGRNLE LQVLLESEKV RIREMSSTLD RERELHAQLQ SSDGTGQSRP PLPSEDLLKE LQKQLEEKHS RIVELLNETE KYKLDSLQTR QQMEKDRQVH RKTLQTEQEA NTEGQKKMHE LQSKVEDLQR QLEEKRQQVY KLDLEGQRLQ GIMQEFQKQE LEREEKRESR RILYQNLNEP TTWSLTSDRT RNWVLQQKIE GETKESNYAK LIEMNGGGTG CNHELEMIRQ KLQCVASKLQ VLPQKASERL QFETADDEDF IWVQENIDEI ILQLQKLTGQ QGEEPSLVSP STSCGSLTER LLRQNAELTG HISQLTEEKN DLRNMVMKLE EQIRWYRQTG AGRDNSSRFS LNGGANIEAI IASEKEVWNR EKLTLQKSLK RAEAEVYKLK AELRNDSLLQ TLSPDSEHVT LKRIYGKYLR AESFRKALIY QKKYLLLLLG GFQECEVATL ALLARMGGQP AFTDLEVITN RPKGFTRFRS AVRVSIAISR MKFLVRRWHR VTGSVSININ RDGFGLNQGA EKTDSFYHSS GGLELYGEPR HTTYRSRSDL DYIRSPLPFQ NRYPGTPADF NPGSLACSQL QNYDPDRALT DYITRLEALQ RRLGTIQSGS TTQFHAGMRR * | |||||||||||||
| Position of stopcodon in wt / mu CDS | 11583 / 11583 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 3861 / 3861 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 11843 / 11843 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 261 / 261 | |||||||||||||
| Last intron/exon boundary | 11805 | |||||||||||||
| Theoretical NMD boundary in CDS | 11494 | |||||||||||||
| Length of CDS | 11583 | |||||||||||||
| Coding sequence (CDS) position | 11060 | |||||||||||||
| cDNA position | 11320 | |||||||||||||
| gDNA position | 161858 | |||||||||||||
| Chromosomal position | 92102697 | |||||||||||||
| 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 | Chr7:92102697A>T (GRCh38) | |||||||||||||
| Gene symbol | AKAP9 | |||||||||||||
| Gene constraints | LOEUF: 0.66, LOF (oe): 0.59, misssense (oe): 0.91, synonymous (oe): 0.94 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000680072.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.11024A>T g.161858A>T | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 7 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | TGGGTTCCAGGAATGTGAAGATGCCACCTTGGCCCTGCTTG | |||||||||||||
| Altered gDNA sequence snippet | TGGGTTCCAGGAATGTGAAGTTGCCACCTTGGCCCTGCTTG | |||||||||||||
| Original cDNA sequence snippet | TGGGTTCCAGGAATGTGAAGATGCCACCTTGGCCCTGCTTG | |||||||||||||
| Altered cDNA sequence snippet | TGGGTTCCAGGAATGTGAAGTTGCCACCTTGGCCCTGCTTG | |||||||||||||
| Wildtype AA sequence | MEDEERQKKL EAGKAKLAQF RQRKAQSDGQ SPSKKQKKKR KTSSSKHDVS AHHDLNIDQS QCNEMYINSS QRVESTVIPE STIMRTLHSG EITSHEQGFS VELESEISTT ADDCSSEVNG CSFVMRTGKP TNLLREEEFG VDDSYSEQGA QDSPTHLEMM ESELAGKQHE IEELNRELEE MRVTYGTEGL QQLQEFEAAI KQRDGIITQL TANLQQARRE KDETMREFLE LTEQSQKLQI QFQQLQASET LRNSTHSSTA ADLLQAKQQI LTHQQQLEEQ DHLLEDYQKK KEDFTMQISF LQEKIKVYEM EQDKKVENSN KEEIQEKETI IEELNTKIIE EEKKTLELKD KLTTADKLLG ELQEQIVQKN QEIKNMKLEL TNSKQKERQS SEEIKQLMGT VEELQKRNHK DSQFETDIVQ RMEQETQRKL EQLRAELDEM YGQQIVQMKQ ELIRQHMAQM EEMKTRHKGE MENALRSYSN ITVNEDQIKL MNVAINELNI KLQDTNSQKE KLKEELGLIL EEKCALQRQL EDLVEELSFS REQIQRARQT IAEQESKLNE AHKSLSTVED LKAEIVSASE SRKELELKHE AEVTNYKIKL EMLEKEKNAV LDRMAESQEA ELERLRTQLL FSHEEELSKL KEDLEIEHRI NIEKLKDNLG IHYKQQIDGL QNEMSQKIET MQFEKDNLIT KQNQLILEIS KLKDLQQSLV NSKSEEMTLQ INELQKEIEI LRQEEKEKGT LEQEVQELQL KTELLEKQMK EKENDLQEKF AQLEAENSIL KDEKKTLEDM LKIHTPVSQE ERLIFLDSIK SKSKDSVWEK EIEILIEENE DLKQQCIQLN EEIEKQRNTF SFAEKNFEVN YQELQEEYAC LLKVKDDLED SKNKQELEYK SKLKALNEEL HLQRINPTTV KMKSSVFDED KTFVAETLEM GEVVEKDTTE LMEKLEVTKR EKLELSQRLS DLSEQLKQKH GEISFLNEEV KSLKQEKEQV SLRCRELEII INHNRAENVQ SCDTQVSSLL DGVVTMTSRG AEGSVSKVNK SFGEESKIMV EDKVSFENMT VGEESKQEQL ILDHLPSVTK ESSLRATQPS ENDKLQKELN VLKSEQNDLR LQMEAQRICL SLVYSTHVDQ VREYMENEKD KALCSLKEEL IFAQEEKIKE LQKIHQLELQ TMKTQETGDE GKPLHLLIGK LQKAVSEECS YFLQTLCSVL GEYYTPALKC EVNAEDKENS GDYISENEDP ELQDYRYEVQ DFQENMHTLL NKVTEEYNKL LVLQTRLSKI WGQQTDGMKL EFGEENLPKE ETEFLSIHSQ MTNLEDIDVN HKSKLSSLQD LEKTKLEEQV QELESLISSL QQQLKETEQN YEAEIHCLQK RLQAVSESTV PPSLPVDSVV ITESDAQRTM YPGSCVKKNI DGTIEFSGEF GVKEETNIVK LLEKQYQEQL EEEVAKVIVS MSIAFAQQTE LSRISGGKEN TASSKQAHAV CQQEQHYFNE MKLSQDQIGF QTFETVDVKF KEEFKPLSKE LGEHGKEILL SNSDPHDIPE SKDCVLTISE EMFSKDKTFI VRQSIHDEIS VSSMDASRQL MLNEEQLEDM RQELVRQYQE HQQATELLRQ AHMRQMERQR EDQEQLQEEI KRLNRQLAQR SSIDNENLVS ERERVLLEEL EALKQLSLAG REKLCCELRN SSTQTQNGNE NQGEVEEQTF KEKELDRKPE DVPPEILSNE RYALQKANNR LLKILLEVVK TTAAVEETIG RHVLGILDRS SKSQSSASLI WRSEAEASVK SCVHEEHTRV TDESIPSYSG SDMPRNDINM WSKVTEEGTE LSQRLVRSGF AGTEIDPENE ELMLNISSRL QAAVEKLLEA ISETSSQLEH AKVTQTELMR ESFRQKQEAT ESLKCQEELR ERLHEESRAR EQLAVELSKA EGVIDGYADE KTLFERQIQE KTDIIDRLEQ ELLCASNRLQ ELEAEQQQIQ EERELLSRQK EAMKAEAGPV EQQLLQETEK LMKEKLEVQC QAEKVRDDLQ KQVKALEIDV EEQVSRFIEL EQEKNTELMD LRQQNQALEK QLEKMRKFLD EQAIDREHER DVFQQEIQKL EQQLKVVPRF QPISEHQTRE VEDRKHFGAV EAKPELSLEV QLQAERDAID RKEKEITNLE EQLEQFREEL ENKNEEVQQL HMQLEIQKKE STTRLQELEQ ENKLFKDDME KLGLAIKESD AMSTQDQHVL FGKFAQIIQE KEVEIDQLNE QVTKLQQQLK ITTDNKVIEE KNELIRDLET QIECLMSDQE CVKRNREEEI EQLNEVIEKL QQELANIGQK TSMNAHSLSE EADSLKHQLD VVIAEKLALE QQVETANEEM TFMKNVLKET NFKMNQLTQE LFSLKRERES VEKIQSIPEN SVNVAIDHLS KDKPELEVVL TEDALKSLEN QTYFKSFEEN GKGSIINLET RLLQLESTVS AKDLELTQCY KQIKDMQEQG QFETEMLQKK IVNLQKIVEE KVAAALVSQI QLEAVQEYAK FCQDNQTISS EPERTNIQNL NQLREDELGS DISALTLRIS ELESQVVEMH TSLILEKEQV EIAEKNVLEK EKKLLELQKL LEGNEKKQRE KEKKRSPQDV EVLKTTTELF HSNEESGFFN ELEALRAESV ATKAELASYK EKAEKLQEEL LVKETNMTSL QKDLSQVRDH LAEAKEKLSI LEKEDETEVQ ESKKACMFEP LPIKLSKSIA SQTDGTLKIS SSNQTPQILV KNAGIQINLQ SECSSEEVTE IISQFTEKIE KMQELHAAEI LDMESRHISE TETLKREHYV AVQLLKEECG TLKAVIQCLR SKEGSSIPEL AHSDAYQTRE ICSSDSGSDW GQGIYLTHSQ GFDIASEGRG EESESATDSF PKKIKGLLRA VHNEGMQVLS LTESPYSDGE DHSIQQVSEP WLEERKAYIN TISSLKDLIT KMQLQREAEV YDSSQSHESF SDWRGELLLA LQQVFLEERS VLLAAFRTEL TALGTTDAVG LLNCLEQRIQ EQGVEYQAAM ECLQKADRRS LLSEIQALHA QMNGRKITLK REQESEKPSQ ELLEYNIQQK QSQMLEMQVE LSSMKDRATE LQEQLSSEKM VVAELKSELA QTKLELETTL KAQHKHLKEL EAFRLEVKDK TDEVHLLNDT LASEQKKSRE LQWALEKEKA KLGRSEERDK EELEDLKFSL ESQKQRNLQL NLLLEQQKQL LNESQQKIES QRMLYDAQLS EEQGRNLELQ VLLESEKVRI REMSSTLDRE RELHAQLQSS DGTGQSRPPL PSEDLLKELQ KQLEEKHSRI VELLNETEKY KLDSLQTRQQ MEKDRQVHRK TLQTEQEANT EGQKKMHELQ SKVEDLQRQL EEKRQQVYKL DLEGQRLQGI MQEFQKQELE REEKRESRRI LYQNLNEPTT WSLTSDRTRN WVLQQKIEGE TKESNYAKLI EMNGGGTGCN HELEMIRQKL QCVASKLQVL PQKASERLQF ETADDEDFIW VQENIDEIIL QLQKLTGQQG EEPSLVSPST SCGSLTERLL RQNAELTGHI SQLTEEKNDL RNMVMKLEEQ IRWYRQTGAG RDNSSRFSLN GGANIEAIIA SEKEVWNREK LTLQKSLKRA EAEVYKLKAE LRNDSLLQTL SPDSEHVTLK RIYGKYLRAE SFRKALIYQK KYLLLLLGGF QECEDATLAL LARMGGQPAF TDLEVITNRP KGFTRFRSAV RVSIAISRMK FLVRRWHRVT GSVSININRD GFGLNQGAEK TDSFYHSSGG LELYGEPRHT TYRSRSDLDY IRSPLPFQNR YPGTPADFNP GSLACSQLQN YDPDRALTDY ITRLEALQRR LGTIQSGSTT QFHAGMRR* | |||||||||||||
| Mutated AA sequence | MEDEERQKKL EAGKAKLAQF RQRKAQSDGQ SPSKKQKKKR KTSSSKHDVS AHHDLNIDQS QCNEMYINSS QRVESTVIPE STIMRTLHSG EITSHEQGFS VELESEISTT ADDCSSEVNG CSFVMRTGKP TNLLREEEFG VDDSYSEQGA QDSPTHLEMM ESELAGKQHE IEELNRELEE MRVTYGTEGL QQLQEFEAAI KQRDGIITQL TANLQQARRE KDETMREFLE LTEQSQKLQI QFQQLQASET LRNSTHSSTA ADLLQAKQQI LTHQQQLEEQ DHLLEDYQKK KEDFTMQISF LQEKIKVYEM EQDKKVENSN KEEIQEKETI IEELNTKIIE EEKKTLELKD KLTTADKLLG ELQEQIVQKN QEIKNMKLEL TNSKQKERQS SEEIKQLMGT VEELQKRNHK DSQFETDIVQ RMEQETQRKL EQLRAELDEM YGQQIVQMKQ ELIRQHMAQM EEMKTRHKGE MENALRSYSN ITVNEDQIKL MNVAINELNI KLQDTNSQKE KLKEELGLIL EEKCALQRQL EDLVEELSFS REQIQRARQT IAEQESKLNE AHKSLSTVED LKAEIVSASE SRKELELKHE AEVTNYKIKL EMLEKEKNAV LDRMAESQEA ELERLRTQLL FSHEEELSKL KEDLEIEHRI NIEKLKDNLG IHYKQQIDGL QNEMSQKIET MQFEKDNLIT KQNQLILEIS KLKDLQQSLV NSKSEEMTLQ INELQKEIEI LRQEEKEKGT LEQEVQELQL KTELLEKQMK EKENDLQEKF AQLEAENSIL KDEKKTLEDM LKIHTPVSQE ERLIFLDSIK SKSKDSVWEK EIEILIEENE DLKQQCIQLN EEIEKQRNTF SFAEKNFEVN YQELQEEYAC LLKVKDDLED SKNKQELEYK SKLKALNEEL HLQRINPTTV KMKSSVFDED KTFVAETLEM GEVVEKDTTE LMEKLEVTKR EKLELSQRLS DLSEQLKQKH GEISFLNEEV KSLKQEKEQV SLRCRELEII INHNRAENVQ SCDTQVSSLL DGVVTMTSRG AEGSVSKVNK SFGEESKIMV EDKVSFENMT VGEESKQEQL ILDHLPSVTK ESSLRATQPS ENDKLQKELN VLKSEQNDLR LQMEAQRICL SLVYSTHVDQ VREYMENEKD KALCSLKEEL IFAQEEKIKE LQKIHQLELQ TMKTQETGDE GKPLHLLIGK LQKAVSEECS YFLQTLCSVL GEYYTPALKC EVNAEDKENS GDYISENEDP ELQDYRYEVQ DFQENMHTLL NKVTEEYNKL LVLQTRLSKI WGQQTDGMKL EFGEENLPKE ETEFLSIHSQ MTNLEDIDVN HKSKLSSLQD LEKTKLEEQV QELESLISSL QQQLKETEQN YEAEIHCLQK RLQAVSESTV PPSLPVDSVV ITESDAQRTM YPGSCVKKNI DGTIEFSGEF GVKEETNIVK LLEKQYQEQL EEEVAKVIVS MSIAFAQQTE LSRISGGKEN TASSKQAHAV CQQEQHYFNE MKLSQDQIGF QTFETVDVKF KEEFKPLSKE LGEHGKEILL SNSDPHDIPE SKDCVLTISE EMFSKDKTFI VRQSIHDEIS VSSMDASRQL MLNEEQLEDM RQELVRQYQE HQQATELLRQ AHMRQMERQR EDQEQLQEEI KRLNRQLAQR SSIDNENLVS ERERVLLEEL EALKQLSLAG REKLCCELRN SSTQTQNGNE NQGEVEEQTF KEKELDRKPE DVPPEILSNE RYALQKANNR LLKILLEVVK TTAAVEETIG RHVLGILDRS SKSQSSASLI WRSEAEASVK SCVHEEHTRV TDESIPSYSG SDMPRNDINM WSKVTEEGTE LSQRLVRSGF AGTEIDPENE ELMLNISSRL QAAVEKLLEA ISETSSQLEH AKVTQTELMR ESFRQKQEAT ESLKCQEELR ERLHEESRAR EQLAVELSKA EGVIDGYADE KTLFERQIQE KTDIIDRLEQ ELLCASNRLQ ELEAEQQQIQ EERELLSRQK EAMKAEAGPV EQQLLQETEK LMKEKLEVQC QAEKVRDDLQ KQVKALEIDV EEQVSRFIEL EQEKNTELMD LRQQNQALEK QLEKMRKFLD EQAIDREHER DVFQQEIQKL EQQLKVVPRF QPISEHQTRE VEDRKHFGAV EAKPELSLEV QLQAERDAID RKEKEITNLE EQLEQFREEL ENKNEEVQQL HMQLEIQKKE STTRLQELEQ ENKLFKDDME KLGLAIKESD AMSTQDQHVL FGKFAQIIQE KEVEIDQLNE QVTKLQQQLK ITTDNKVIEE KNELIRDLET QIECLMSDQE CVKRNREEEI EQLNEVIEKL QQELANIGQK TSMNAHSLSE EADSLKHQLD VVIAEKLALE QQVETANEEM TFMKNVLKET NFKMNQLTQE LFSLKRERES VEKIQSIPEN SVNVAIDHLS KDKPELEVVL TEDALKSLEN QTYFKSFEEN GKGSIINLET RLLQLESTVS AKDLELTQCY KQIKDMQEQG QFETEMLQKK IVNLQKIVEE KVAAALVSQI QLEAVQEYAK FCQDNQTISS EPERTNIQNL NQLREDELGS DISALTLRIS ELESQVVEMH TSLILEKEQV EIAEKNVLEK EKKLLELQKL LEGNEKKQRE KEKKRSPQDV EVLKTTTELF HSNEESGFFN ELEALRAESV ATKAELASYK EKAEKLQEEL LVKETNMTSL QKDLSQVRDH LAEAKEKLSI LEKEDETEVQ ESKKACMFEP LPIKLSKSIA SQTDGTLKIS SSNQTPQILV KNAGIQINLQ SECSSEEVTE IISQFTEKIE KMQELHAAEI LDMESRHISE TETLKREHYV AVQLLKEECG TLKAVIQCLR SKEGSSIPEL AHSDAYQTRE ICSSDSGSDW GQGIYLTHSQ GFDIASEGRG EESESATDSF PKKIKGLLRA VHNEGMQVLS LTESPYSDGE DHSIQQVSEP WLEERKAYIN TISSLKDLIT KMQLQREAEV YDSSQSHESF SDWRGELLLA LQQVFLEERS VLLAAFRTEL TALGTTDAVG LLNCLEQRIQ EQGVEYQAAM ECLQKADRRS LLSEIQALHA QMNGRKITLK REQESEKPSQ ELLEYNIQQK QSQMLEMQVE LSSMKDRATE LQEQLSSEKM VVAELKSELA QTKLELETTL KAQHKHLKEL EAFRLEVKDK TDEVHLLNDT LASEQKKSRE LQWALEKEKA KLGRSEERDK EELEDLKFSL ESQKQRNLQL NLLLEQQKQL LNESQQKIES QRMLYDAQLS EEQGRNLELQ VLLESEKVRI REMSSTLDRE RELHAQLQSS DGTGQSRPPL PSEDLLKELQ KQLEEKHSRI VELLNETEKY KLDSLQTRQQ MEKDRQVHRK TLQTEQEANT EGQKKMHELQ SKVEDLQRQL EEKRQQVYKL DLEGQRLQGI MQEFQKQELE REEKRESRRI LYQNLNEPTT WSLTSDRTRN WVLQQKIEGE TKESNYAKLI EMNGGGTGCN HELEMIRQKL QCVASKLQVL PQKASERLQF ETADDEDFIW VQENIDEIIL QLQKLTGQQG EEPSLVSPST SCGSLTERLL RQNAELTGHI SQLTEEKNDL RNMVMKLEEQ IRWYRQTGAG RDNSSRFSLN GGANIEAIIA SEKEVWNREK LTLQKSLKRA EAEVYKLKAE LRNDSLLQTL SPDSEHVTLK RIYGKYLRAE SFRKALIYQK KYLLLLLGGF QECEVATLAL LARMGGQPAF TDLEVITNRP KGFTRFRSAV RVSIAISRMK FLVRRWHRVT GSVSININRD GFGLNQGAEK TDSFYHSSGG LELYGEPRHT TYRSRSDLDY IRSPLPFQNR YPGTPADFNP GSLACSQLQN YDPDRALTDY ITRLEALQRR LGTIQSGSTT QFHAGMRR* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 11547 / 11547 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 3849 / 3849 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 11807 / 11807 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 261 / 261 | |||||||||||||
| Last intron/exon boundary | 11769 | |||||||||||||
| Theoretical NMD boundary in CDS | 11458 | |||||||||||||
| Length of CDS | 11547 | |||||||||||||
| Coding sequence (CDS) position | 11024 | |||||||||||||
| cDNA position | 11284 | |||||||||||||
| gDNA position | 161858 | |||||||||||||
| Chromosomal position | 92102697 | |||||||||||||
| 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 | Chr7:92102697A>T (GRCh38) | |||||||||||||
| Gene symbol | CYP51A1 | |||||||||||||
| Gene constraints | LOEUF: 1.14, LOF (oe): 0.83, misssense (oe): 0.76, synonymous (oe): 0.75 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000691309.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.1351+14347T>A g.32107T>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 | CAAGCAGGGCCAAGGTGGCATCTTCACATTCCTGGAACCCA | |||||||||||||
| Altered gDNA sequence snippet | CAAGCAGGGCCAAGGTGGCAACTTCACATTCCTGGAACCCA | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MAAAAGMLLL GLLQAGGSVL GQAMEKVTGG NLLSMLLIAC AFTLSLVYLI RLAAGHLVQL PAGVKSPPYI FSPIPFLGHA IAFGKSPIEF LENAYEKYGP VFSFTMVGKT FTYLLGSDAA ALLFNSKNED LNAEDVYSRL TTPVFGKGVA YDVPNPVFLE QKKMLKSGLN IAHFKQHVSI IEKETKEYFE SWGESGEKNV FEALSELIIL TASHCLHGKE IRSQLNEKVA QLYADLDGGF SHAAWLLPGW LPLPSFRRRD RAHREIKDIF YKAIQKRRQS QEKIDDILQT LLDATYKDGR PLTDDEVAGM LIGLLLAGQH TSSTTSAWMG FFLARDKTLQ KKCYLEQKTV CGENLPPLTY DQLKDLNLLD RCIKETLRLR PPIMIMMRMA RTPQTVAGYT IPPGHQVCVS PTVNQRLKDS WVERLDFNPD RYLQDNPASG EKFAYVPFGA AKVLKPAE* | |||||||||||||
| 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 | 140 / 140 | |||||||||||||
| Last intron/exon boundary | 1490 | |||||||||||||
| Theoretical NMD boundary in CDS | 1300 | |||||||||||||
| Length of CDS | 1377 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 32107 | |||||||||||||
| Chromosomal position | 92102697 | |||||||||||||
| Speed | 0.01 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