| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PLEKHA7 | Deleterious | 53|47 | 3utr | No | Single base exchange | N/A | |||||||
| PLEKHA7 | Deleterious | 82|18 | simple_ | No | Single base exchange | Normal |
| ||||||
ENST00000531066(MANE Select) | PLEKHA7 | Deleterious | 84|16 | simple_ | No | Single base exchange | Normal |
| |||||
| PLEKHA7 | Benign | 40|60 | simple_ | No | Single base exchange | Normal |
| ||||||
| PLEKHA7 | Benign | 40|60 | simple_ | No | Single base exchange | Normal |
|
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr11:16789104G>A (GRCh38) | |||||||||||||
| Gene symbol | PLEKHA7 | |||||||||||||
| Gene constraints | LOEUF: 1.65, LOF (oe): 0.97, misssense (oe): 1.18, synonymous (oe): 1.20 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000532079.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | 3'UTR | |||||||||||||
| DNA changes | cDNA.444C>T g.225312C>T | |||||||||||||
| 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 | polyA signal ok | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 11 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GCCGGCCGCTCCCTGGAGATCTTGGCTCAGTATGTTAGGAG | |||||||||||||
| Altered gDNA sequence snippet | GCCGGCCGCTCCCTGGAGATTTTGGCTCAGTATGTTAGGAG | |||||||||||||
| Original cDNA sequence snippet | GCCGGCCGCTCCCTGGAGATCTTGGCTCAGTATGTTAGGAG | |||||||||||||
| Altered cDNA sequence snippet | GCCGGCCGCTCCCTGGAGATTTTGGCTCAGTATGTTAGGAG | |||||||||||||
| Wildtype AA sequence | MAASSSSMTS SAARPGCIRA PGSPSTRGPR QGSSSRPPLL PTSHSGGVSM PKAARRPSLD LRVPWSACTQ GITSEAR* | |||||||||||||
| 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 | 76 / 76 | |||||||||||||
| Last intron/exon boundary | 251 | |||||||||||||
| Theoretical NMD boundary in CDS | 125 | |||||||||||||
| Length of CDS | 234 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | 444 | |||||||||||||
| gDNA position | 225312 | |||||||||||||
| Chromosomal position | 16789104 | |||||||||||||
| Speed | 0.12 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 | Chr11:16789104G>A (GRCh38) | ||||||||||||||||
| Gene symbol | PLEKHA7 | ||||||||||||||||
| Gene constraints | LOEUF: 0.70, LOF (oe): 0.59, misssense (oe): 0.96, synonymous (oe): 0.97 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000355661.7 | ||||||||||||||||
| Genbank transcript ID | NM_175058 (by similarity), NM_001329631 (by similarity) | ||||||||||||||||
| UniProt / AlphaMissense peptide | PKHA7_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.3349C>T g.225312C>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 | 11 | ||||||||||||||||
| Strand | -1 | ||||||||||||||||
| Original gDNA sequence snippet | GCCGGCCGCTCCCTGGAGATCTTGGCTCAGTATGTTAGGAG | ||||||||||||||||
| Altered gDNA sequence snippet | GCCGGCCGCTCCCTGGAGATTTTGGCTCAGTATGTTAGGAG | ||||||||||||||||
| Original cDNA sequence snippet | GCCGGCCGCTCCCTGGAGATCTTGGCTCAGTATGTTAGGAG | ||||||||||||||||
| Altered cDNA sequence snippet | GCCGGCCGCTCCCTGGAGATTTTGGCTCAGTATGTTAGGAG | ||||||||||||||||
| Wildtype AA sequence | MAAATVGRDT LPEHWSYGVC RDGRVFFIND QLRCTTWLHP RTGEPVNSGH MIRSDLPRGW EEGFTEEGAS YFIDHNQQTT AFRHPVTGQF SPENSEFILQ EEPNPHMSKQ DRNQRPSSMV SETSTAGTAS TLEAKPGPKI IKSSSKVHSF GKRDQAIRRN PNVPVVVRGW LHKQDSSGMR LWKRRWFVLA DYCLFYYKDS REEAVLGSIP LPSYVISPVA PEDRISRKYS FKAVHTGMRA LIYNSSTAGS QAEQSGMRTY YFSADTQEDM NAWVRAMNQA AQVLSRSSLK RDMEKVERQA VPQANHTESC HECGRVGPGH TRDCPHRGHD DIVNFERQEQ EGEQYRSQRD PLEGKRDRSK ARSPYSPAEE DALFMDLPTG PRGQQAQPQR AEKNGMLPAS YGPGEQNGTG GYQRAFPPRT NPEKHSQRKS NLAQVEHWAR AQKGDSRSLP LDQTLPRQGP GQSLSFPENY QTLPKSTRHP SGGSSPPPRN LPSDYKYAQD RASHLKMSSE ERRAHRDGTV WQLYEWQQRQ QFRHGSPTAP ICLGSPEFTD QGRSRSMLEV PRSISVPPSP SDIPPPGPPR VFPPRRPHTP AERVTVKPPD QRRSVDISLG DSPRRARGHA VKNSSHVDRR SMPSMGYMTH TVSAPSLHGK SADDTYLQLK KDLEYLDLKM TGRDLLKDRS LKPVKIAESD TDVKLSIFCE QDRVLQDLED KIRALKENKD QLESVLEVLH RQMEQYRDQP QHLEKIAYQQ KLLQEDLVHI RAELSRESTE MENAWNEYLK LENDVEQLKQ TLQEQHRRAF FFQEKSQIQK DLWRIEDVTA GLSANKENFR ILVESVKNPE RKTVPLFPHP PVPSLSTSES KPPPQPSPPT SPVRTPLEVR LFPQLQTYVP YRPHPPQLRK VTSPLQSPTK AKPKVEDEAP PRPPLPELYS PEDQPPAVPP LPREATIIRH TSVRGLKRQS DERKRDRELG QCVNGDSRVE LRSYVSEPEL ATLSGDMAQP SLGLVGPESR YQTLPGRGLS GSTSRLQQSS TIAPYVTLRR GLNAESSKAT FPRPKSALER LYSGDHQRGK MSAEEQLERM KRHQKALVRE RKRTLGQGER TGLPSSRYLS RPLPGDLGSV C* | ||||||||||||||||
| Mutated AA sequence | MAAATVGRDT LPEHWSYGVC RDGRVFFIND QLRCTTWLHP RTGEPVNSGH MIRSDLPRGW EEGFTEEGAS YFIDHNQQTT AFRHPVTGQF SPENSEFILQ EEPNPHMSKQ DRNQRPSSMV SETSTAGTAS TLEAKPGPKI IKSSSKVHSF GKRDQAIRRN PNVPVVVRGW LHKQDSSGMR LWKRRWFVLA DYCLFYYKDS REEAVLGSIP LPSYVISPVA PEDRISRKYS FKAVHTGMRA LIYNSSTAGS QAEQSGMRTY YFSADTQEDM NAWVRAMNQA AQVLSRSSLK RDMEKVERQA VPQANHTESC HECGRVGPGH TRDCPHRGHD DIVNFERQEQ EGEQYRSQRD PLEGKRDRSK ARSPYSPAEE DALFMDLPTG PRGQQAQPQR AEKNGMLPAS YGPGEQNGTG GYQRAFPPRT NPEKHSQRKS NLAQVEHWAR AQKGDSRSLP LDQTLPRQGP GQSLSFPENY QTLPKSTRHP SGGSSPPPRN LPSDYKYAQD RASHLKMSSE ERRAHRDGTV WQLYEWQQRQ QFRHGSPTAP ICLGSPEFTD QGRSRSMLEV PRSISVPPSP SDIPPPGPPR VFPPRRPHTP AERVTVKPPD QRRSVDISLG DSPRRARGHA VKNSSHVDRR SMPSMGYMTH TVSAPSLHGK SADDTYLQLK KDLEYLDLKM TGRDLLKDRS LKPVKIAESD TDVKLSIFCE QDRVLQDLED KIRALKENKD QLESVLEVLH RQMEQYRDQP QHLEKIAYQQ KLLQEDLVHI RAELSRESTE MENAWNEYLK LENDVEQLKQ TLQEQHRRAF FFQEKSQIQK DLWRIEDVTA GLSANKENFR ILVESVKNPE RKTVPLFPHP PVPSLSTSES KPPPQPSPPT SPVRTPLEVR LFPQLQTYVP YRPHPPQLRK VTSPLQSPTK AKPKVEDEAP PRPPLPELYS PEDQPPAVPP LPREATIIRH TSVRGLKRQS DERKRDRELG QCVNGDSRVE LRSYVSEPEL ATLSGDMAQP SLGLVGPESR YQTLPGRGLS GSTSRLQQSS TIAPYVTLRR GLNAESSKAT FPRPKSALER LYSGDHQRGK MSAEEQLERM KRHQKALVRE RKRTLGQGER TGLPSSRYLS RPLPGDFGSV C* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 3366 / 3366 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1122 / 1122 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 3377 / 3377 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 12 / 12 | ||||||||||||||||
| Last intron/exon boundary | 3167 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 3105 | ||||||||||||||||
| Length of CDS | 3366 | ||||||||||||||||
| Coding sequence (CDS) position | 3349 | ||||||||||||||||
| cDNA position | 3360 | ||||||||||||||||
| gDNA position | 225312 | ||||||||||||||||
| Chromosomal position | 16789104 | ||||||||||||||||
| Speed | 0.11 s | ||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr11:16789104G>A (GRCh38) | |||||||||||||
| Gene symbol | PLEKHA7 | |||||||||||||
| Gene constraints | LOEUF: 0.73, LOF (oe): 0.61, misssense (oe): 0.96, synonymous (oe): 0.98 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000531066.6 | |||||||||||||
| Genbank transcript ID | NM_001329630 (exact from MANE) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.3349C>T g.225312C>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 | 9 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 11 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GCCGGCCGCTCCCTGGAGATCTTGGCTCAGTATGTTAGGAG | |||||||||||||
| Altered gDNA sequence snippet | GCCGGCCGCTCCCTGGAGATTTTGGCTCAGTATGTTAGGAG | |||||||||||||
| Original cDNA sequence snippet | GCCGGCCGCTCCCTGGAGATCTTGGCTCATGGAAGCGTGAG | |||||||||||||
| Altered cDNA sequence snippet | GCCGGCCGCTCCCTGGAGATTTTGGCTCATGGAAGCGTGAG | |||||||||||||
| Wildtype AA sequence | MAAATVGRDT LPEHWSYGVC RDGRVFFIND QLRCTTWLHP RTGEPVNSGH MIRSDLPRGW EEGFTEEGAS YFIDHNQQTT AFRHPVTGQF SPENSEFILQ EEPNPHMSKQ DRNQRPSSMV SETSTAGTAS TLEAKPGPKI IKSSSKVHSF GKRDQAIRRN PNVPVVVRGW LHKQDSSGMR LWKRRWFVLA DYCLFYYKDS REEAVLGSIP LPSYVISPVA PEDRISRKYS FKAVHTGMRA LIYNSSTAGS QAEQSGMRTY YFSADTQEDM NAWVRAMNQA AQVLSRSSLK RDMEKVERQA VPQANHTESC HECGRVGPGH TRDCPHRGHD DIVNFERQEQ EGEQYRSQRD PLEGKRDRSK ARSPYSPAEE DALFMDLPTG PRGQQAQPQR AEKNGMLPAS YGPGEQNGTG GYQRAFPPRT NPEKHSQRKS NLAQVEHWAR AQKGDSRSLP LDQTLPRQGP GQSLSFPENY QTLPKSTRHP SGGSSPPPRN LPSDYKYAQD RASHLKMSSE ERRAHRDGTV WQLYEWQQRQ QFRHGSPTAP ICLGSPEFTD QGRSRSMLEV PRSISVPPSP SDIPPPGPPR VFPPRRPHTP AERVTVKPPD QRRSVDISLG DSPRRARGHA VKNSSHVDRR SMPSMGYMTH TVSAPSLHGK SADDTYLQLK KDLEYLDLKM TGRDLLKDRS LKPVKIAESD TDVKLSIFCE QDRVLQDLED KIRALKENKD QLESVLEVLH RQMEQYRDQP QHLEKIAYQQ KLLQEDLVHI RAELSRESTE MENAWNEYLK LENDVEQLKQ TLQEQHRRAF FFQEKSQIQK DLWRIEDVTA GLSANKENFR ILVESVKNPE RKTVPLFPHP PVPSLSTSES KPPPQPSPPT SPVRTPLEVR LFPQLQTYVP YRPHPPQLRK VTSPLQSPTK AKPKVEDEAP PRPPLPELYS PEDQPPAVPP LPREATIIRH TSVRGLKRQS DERKRDRELG QCVNGDSRVE LRSYVSEPEL ATLSGDMAQP SLGLVGPESR YQTLPGRGLS GSTSRLQQSS TIAPYVTLRR GLNAESSKAT FPRPKSALER LYSGDHQRGK MSAEEQLERM KRHQKALVRE RKRTLGQGER TGLPSSRYLS RPLPGDLGSW KREQDFDLQL LERVVQGEKK DKEENGWLKV QAMPVTELDL EPQDYDLDIS RELSKPEKVS IPERYVELDP EEPPSLEELQ ARYRKAEKIR NILARSSMCN LQPTSGQDQN SVADLDLQLQ EQERIINISY ALASEASQRS KQVAAQAVTD P* | |||||||||||||
| Mutated AA sequence | MAAATVGRDT LPEHWSYGVC RDGRVFFIND QLRCTTWLHP RTGEPVNSGH MIRSDLPRGW EEGFTEEGAS YFIDHNQQTT AFRHPVTGQF SPENSEFILQ EEPNPHMSKQ DRNQRPSSMV SETSTAGTAS TLEAKPGPKI IKSSSKVHSF GKRDQAIRRN PNVPVVVRGW LHKQDSSGMR LWKRRWFVLA DYCLFYYKDS REEAVLGSIP LPSYVISPVA PEDRISRKYS FKAVHTGMRA LIYNSSTAGS QAEQSGMRTY YFSADTQEDM NAWVRAMNQA AQVLSRSSLK RDMEKVERQA VPQANHTESC HECGRVGPGH TRDCPHRGHD DIVNFERQEQ EGEQYRSQRD PLEGKRDRSK ARSPYSPAEE DALFMDLPTG PRGQQAQPQR AEKNGMLPAS YGPGEQNGTG GYQRAFPPRT NPEKHSQRKS NLAQVEHWAR AQKGDSRSLP LDQTLPRQGP GQSLSFPENY QTLPKSTRHP SGGSSPPPRN LPSDYKYAQD RASHLKMSSE ERRAHRDGTV WQLYEWQQRQ QFRHGSPTAP ICLGSPEFTD QGRSRSMLEV PRSISVPPSP SDIPPPGPPR VFPPRRPHTP AERVTVKPPD QRRSVDISLG DSPRRARGHA VKNSSHVDRR SMPSMGYMTH TVSAPSLHGK SADDTYLQLK KDLEYLDLKM TGRDLLKDRS LKPVKIAESD TDVKLSIFCE QDRVLQDLED KIRALKENKD QLESVLEVLH RQMEQYRDQP QHLEKIAYQQ KLLQEDLVHI RAELSRESTE MENAWNEYLK LENDVEQLKQ TLQEQHRRAF FFQEKSQIQK DLWRIEDVTA GLSANKENFR ILVESVKNPE RKTVPLFPHP PVPSLSTSES KPPPQPSPPT SPVRTPLEVR LFPQLQTYVP YRPHPPQLRK VTSPLQSPTK AKPKVEDEAP PRPPLPELYS PEDQPPAVPP LPREATIIRH TSVRGLKRQS DERKRDRELG QCVNGDSRVE LRSYVSEPEL ATLSGDMAQP SLGLVGPESR YQTLPGRGLS GSTSRLQQSS TIAPYVTLRR GLNAESSKAT FPRPKSALER LYSGDHQRGK MSAEEQLERM KRHQKALVRE RKRTLGQGER TGLPSSRYLS RPLPGDFGSW KREQDFDLQL LERVVQGEKK DKEENGWLKV QAMPVTELDL EPQDYDLDIS RELSKPEKVS IPERYVELDP EEPPSLEELQ ARYRKAEKIR NILARSSMCN LQPTSGQDQN SVADLDLQLQ EQERIINISY ALASEASQRS KQVAAQAVTD P* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3816 / 3816 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1272 / 1272 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3829 / 3829 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 14 / 14 | |||||||||||||
| Last intron/exon boundary | 3806 | |||||||||||||
| Theoretical NMD boundary in CDS | 3742 | |||||||||||||
| Length of CDS | 3816 | |||||||||||||
| Coding sequence (CDS) position | 3349 | |||||||||||||
| cDNA position | 3362 | |||||||||||||
| gDNA position | 225312 | |||||||||||||
| Chromosomal position | 16789104 | |||||||||||||
| Speed | 0.10 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr11:16789104G>A (GRCh38) | |||||||||||||
| Gene symbol | PLEKHA7 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000698836.1 | |||||||||||||
| Genbank transcript ID | NM_001410960 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.3352C>T g.225312C>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 | 9 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 11 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GCCGGCCGCTCCCTGGAGATCTTGGCTCAGTATGTTAGGAG | |||||||||||||
| Altered gDNA sequence snippet | GCCGGCCGCTCCCTGGAGATTTTGGCTCAGTATGTTAGGAG | |||||||||||||
| Original cDNA sequence snippet | GCCGGCCGCTCCCTGGAGATCTTGGCTCATGGAAGCGTGAG | |||||||||||||
| Altered cDNA sequence snippet | GCCGGCCGCTCCCTGGAGATTTTGGCTCATGGAAGCGTGAG | |||||||||||||
| Wildtype AA sequence | MAAATVGRDT LPEHWSYGVC RDGRVFFIND QLRCTTWLHP RTGEPVNSGH MIRSDLPRGW EEGFTEEGAS YFIDHNQQTT AFRHPVTGQF SPENSEFILQ EEPNPHMSKQ DRNQRPSSMV SETSTAGTAS TLEAKPGPKI IKSSSKVHSF GKRDQAIRRN PNVPVVVRGW LHKQDSSGMR LWKRRWFVLA DYCLFYYKDS REEAVLGSIP LPSYVISPVA PEDRISRKYS FKAVHTGMRA LIYNSSTAGS QAEQSGMRTY YFSADTQEDM NAWVRAMNQA AQVLSRSSLK RDMEKVERQA VPQANHTESC HECGRVGPGH TRDCPHRGHD DIVNFERQEQ EGEQYRSQRD PLEGKRDRSK ARSPYSPAEE DALFMDLPTG PRGQQAQPQR AEKNGMLPAS YGPGEQNGTG GYQRAFPPRT NPEKHSQRKS NLAQVEHWAR AQKGDSRSLP LDQTLPRQGP GQSLSFPENY QTLPKSTRHP SGGSSPPPRN LPSDYKYAQD RASHLKMSSE ERRAHRDGTV WQLYEWQQRQ QFRHGSPTAP ICLGSPEFTD QGRSRSMLEV PRSISVPPSP SDIPPPGPPR VFPPRRPHTP AERVTVKPPD QRRSVDISLG DSPRRARGHA VKNSSHVDRR SMPSMGYMTH TVSAPSLHGK SADDTYLQLK KDLEYLDLKM TGRDLLKDRS LKPVKIAESD TDVKLSIFCE QDRVLQDLED KIRALKENKD QLESVLEVLH RQMEQYRDQP QHLEKIAYQQ KLLQEDLVHI RAELSRESTE MENAWNEYLK LENDVEQLKQ TLQEQHRRAF FFQEKSQIQK DLWRIEDVTA GLSANKENFR ILVESVKNPE RKTVPLFPHP PVPSLSTSES KPPPQPSPPT SPVRTPLEVR LFPQLQTYVP YRPHPPQLRK VTSPLQSPTK AKPKVQEDEA PPRPPLPELY SPEDQPPAVP PLPREATIIR HTSVRGLKRQ SDERKRDREL GQCVNGDSRV ELRSYVSEPE LATLSGDMAQ PSLGLVGPES RYQTLPGRGL SGSTSRLQQS STIAPYVTLR RGLNAESSKA TFPRPKSALE RLYSGDHQRG KMSAEEQLER MKRHQKALVR ERKRTLGQGE RTGLPSSRYL SRPLPGDLGS WKREQDFDLQ LLERVVQGEK KDKEENGWLK VQAMPVTELD LEPQDYDLDI SRELSKPEKV SIPERYVELD PEEPPSLEEL QARYRKAEKI RNILARSSMC NLQPTSGQDQ NSVADLDLQL QEQERIINIS YALASEASQR SKQVAAQAVT DP* | |||||||||||||
| Mutated AA sequence | MAAATVGRDT LPEHWSYGVC RDGRVFFIND QLRCTTWLHP RTGEPVNSGH MIRSDLPRGW EEGFTEEGAS YFIDHNQQTT AFRHPVTGQF SPENSEFILQ EEPNPHMSKQ DRNQRPSSMV SETSTAGTAS TLEAKPGPKI IKSSSKVHSF GKRDQAIRRN PNVPVVVRGW LHKQDSSGMR LWKRRWFVLA DYCLFYYKDS REEAVLGSIP LPSYVISPVA PEDRISRKYS FKAVHTGMRA LIYNSSTAGS QAEQSGMRTY YFSADTQEDM NAWVRAMNQA AQVLSRSSLK RDMEKVERQA VPQANHTESC HECGRVGPGH TRDCPHRGHD DIVNFERQEQ EGEQYRSQRD PLEGKRDRSK ARSPYSPAEE DALFMDLPTG PRGQQAQPQR AEKNGMLPAS YGPGEQNGTG GYQRAFPPRT NPEKHSQRKS NLAQVEHWAR AQKGDSRSLP LDQTLPRQGP GQSLSFPENY QTLPKSTRHP SGGSSPPPRN LPSDYKYAQD RASHLKMSSE ERRAHRDGTV WQLYEWQQRQ QFRHGSPTAP ICLGSPEFTD QGRSRSMLEV PRSISVPPSP SDIPPPGPPR VFPPRRPHTP AERVTVKPPD QRRSVDISLG DSPRRARGHA VKNSSHVDRR SMPSMGYMTH TVSAPSLHGK SADDTYLQLK KDLEYLDLKM TGRDLLKDRS LKPVKIAESD TDVKLSIFCE QDRVLQDLED KIRALKENKD QLESVLEVLH RQMEQYRDQP QHLEKIAYQQ KLLQEDLVHI RAELSRESTE MENAWNEYLK LENDVEQLKQ TLQEQHRRAF FFQEKSQIQK DLWRIEDVTA GLSANKENFR ILVESVKNPE RKTVPLFPHP PVPSLSTSES KPPPQPSPPT SPVRTPLEVR LFPQLQTYVP YRPHPPQLRK VTSPLQSPTK AKPKVQEDEA PPRPPLPELY SPEDQPPAVP PLPREATIIR HTSVRGLKRQ SDERKRDREL GQCVNGDSRV ELRSYVSEPE LATLSGDMAQ PSLGLVGPES RYQTLPGRGL SGSTSRLQQS STIAPYVTLR RGLNAESSKA TFPRPKSALE RLYSGDHQRG KMSAEEQLER MKRHQKALVR ERKRTLGQGE RTGLPSSRYL SRPLPGDFGS WKREQDFDLQ LLERVVQGEK KDKEENGWLK VQAMPVTELD LEPQDYDLDI SRELSKPEKV SIPERYVELD PEEPPSLEEL QARYRKAEKI RNILARSSMC NLQPTSGQDQ NSVADLDLQL QEQERIINIS YALASEASQR SKQVAAQAVT DP* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3819 / 3819 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1273 / 1273 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3833 / 3833 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 15 / 15 | |||||||||||||
| Last intron/exon boundary | 3810 | |||||||||||||
| Theoretical NMD boundary in CDS | 3745 | |||||||||||||
| Length of CDS | 3819 | |||||||||||||
| Coding sequence (CDS) position | 3352 | |||||||||||||
| cDNA position | 3366 | |||||||||||||
| gDNA position | 225312 | |||||||||||||
| Chromosomal position | 16789104 | |||||||||||||
| Speed | 0.12 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 | Chr11:16789104G>A (GRCh38) | |||||||||||||
| Gene symbol | PLEKHA7 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000696749.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.3220C>T g.225312C>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 | 11 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GCCGGCCGCTCCCTGGAGATCTTGGCTCAGTATGTTAGGAG | |||||||||||||
| Altered gDNA sequence snippet | GCCGGCCGCTCCCTGGAGATTTTGGCTCAGTATGTTAGGAG | |||||||||||||
| Original cDNA sequence snippet | GCCGGCCGCTCCCTGGAGATCTTGGCTCAGTATGTTAGGAG | |||||||||||||
| Altered cDNA sequence snippet | GCCGGCCGCTCCCTGGAGATTTTGGCTCAGTATGTTAGGAG | |||||||||||||
| Wildtype AA sequence | MLPWRKFEGL WLLLSRLGGQ SLHRVAADNT SHNQQTTAFR HPVTGQFSPE NSEFILQEEP NPHMSKQDRN QRPSSMVSET STAGTASTLE AKPGPKIIKS SSKVHSFGKR DQAIRRNPNV PVVVRGWLHK QDSSGMRLWK RRWFVLADYC LFYYKDSREE AVLGSIPLPS YVISPVAPED RISRKYSFKA VHTGMRALIY NSSTAGSQAE QSGMRTYYFS ADTQEDMNAW VRAMNQAAQV LSRSSLKRDM EKVERQAVPQ ANHTESCHEC GRVGPGHTRD CPHRGHDDIV NFERQEQEGE QYRSQRDPLE GKRDRSKARS PYSPAEEDAL FMDLPTGPRG QQAQPQRAEK NGMLPASYGP GEQNGTGGYQ RAFPPRTNPE KHSQRKSNLA QVEHWARAQK GDSRSLPLDQ TLPRQGPGQS LSFPENYQTL PKSTRHPSGG SSPPPRNLPS DYKYAQDRAS HLKMSSEERR AHRDGTVWQL YEWQQRQQFR HGSPTAPICL GSPEFTDQGR SRSMLEVPRS ISVPPSPSDI PPPGPPRVFP PRRPHTPAER VTVKPPDQRR SVDISLGDSP RRARGHAVKN SSHVDRRSMP SMGYMTHTVS APSLHGKSAD DTYLQLKKDL EYLDLKMTGR DLLKDRSLKP VKIAESDTDV KLSIFCEQDR VLQDLEDKIR ALKENKDQLE SVLEVLHRQM EQYRDQPQHL EKIAYQQKLL QEDLVHIRAE LSRESTEMEN AWNEYLKLEN DVEQLKQTLQ EQHRRAFFFQ EKSQIQKDLW RIEDVTAGLS ANKENFRILV ESVKNPERKT VPLFPHPPVP SLSTSESKPP PQPSPPTSPV RTPLEVRLFP QLQTYVPYRP HPPQLRKVTS PLQSPTKAKP KVEDEAPPRP PLPELYSPED QPPAVPPLPR EATIIRHTSV RGLKRQSDER KRDRELGQCV NGDSRVELRS YVSEPELATL SGDMAQPSLG LVGPESRYQT LPGRGLSGST SRLQQSSTIA PYVTLRRGLN AESSKATFPR PKSALERLYS GDHQRGKMSA EEQLERMKRH QKALVRERKR TLGQGERTGL PSSRYLSRPL PGDLGSVC* | |||||||||||||
| Mutated AA sequence | MLPWRKFEGL WLLLSRLGGQ SLHRVAADNT SHNQQTTAFR HPVTGQFSPE NSEFILQEEP NPHMSKQDRN QRPSSMVSET STAGTASTLE AKPGPKIIKS SSKVHSFGKR DQAIRRNPNV PVVVRGWLHK QDSSGMRLWK RRWFVLADYC LFYYKDSREE AVLGSIPLPS YVISPVAPED RISRKYSFKA VHTGMRALIY NSSTAGSQAE QSGMRTYYFS ADTQEDMNAW VRAMNQAAQV LSRSSLKRDM EKVERQAVPQ ANHTESCHEC GRVGPGHTRD CPHRGHDDIV NFERQEQEGE QYRSQRDPLE GKRDRSKARS PYSPAEEDAL FMDLPTGPRG QQAQPQRAEK NGMLPASYGP GEQNGTGGYQ RAFPPRTNPE KHSQRKSNLA QVEHWARAQK GDSRSLPLDQ TLPRQGPGQS LSFPENYQTL PKSTRHPSGG SSPPPRNLPS DYKYAQDRAS HLKMSSEERR AHRDGTVWQL YEWQQRQQFR HGSPTAPICL GSPEFTDQGR SRSMLEVPRS ISVPPSPSDI PPPGPPRVFP PRRPHTPAER VTVKPPDQRR SVDISLGDSP RRARGHAVKN SSHVDRRSMP SMGYMTHTVS APSLHGKSAD DTYLQLKKDL EYLDLKMTGR DLLKDRSLKP VKIAESDTDV KLSIFCEQDR VLQDLEDKIR ALKENKDQLE SVLEVLHRQM EQYRDQPQHL EKIAYQQKLL QEDLVHIRAE LSRESTEMEN AWNEYLKLEN DVEQLKQTLQ EQHRRAFFFQ EKSQIQKDLW RIEDVTAGLS ANKENFRILV ESVKNPERKT VPLFPHPPVP SLSTSESKPP PQPSPPTSPV RTPLEVRLFP QLQTYVPYRP HPPQLRKVTS PLQSPTKAKP KVEDEAPPRP PLPELYSPED QPPAVPPLPR EATIIRHTSV RGLKRQSDER KRDRELGQCV NGDSRVELRS YVSEPELATL SGDMAQPSLG LVGPESRYQT LPGRGLSGST SRLQQSSTIA PYVTLRRGLN AESSKATFPR PKSALERLYS GDHQRGKMSA EEQLERMKRH QKALVRERKR TLGQGERTGL PSSRYLSRPL PGDFGSVC* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3237 / 3237 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1079 / 1079 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3237 / 3237 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 1 / 1 | |||||||||||||
| Last intron/exon boundary | 3027 | |||||||||||||
| Theoretical NMD boundary in CDS | 2976 | |||||||||||||
| Length of CDS | 3237 | |||||||||||||
| Coding sequence (CDS) position | 3220 | |||||||||||||
| cDNA position | 3220 | |||||||||||||
| gDNA position | 225312 | |||||||||||||
| Chromosomal position | 16789104 | |||||||||||||
| Speed | 0.10 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project