| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ARHGEF9 | Deleterious | 54|46 | simple_ | No | Single base exchange | Normal |
| ||||||
| ARHGEF9 | Deleterious | 54|46 | simple_ | No | Single base exchange | Normal |
| ||||||
| ARHGEF9 | Deleterious | 54|46 | simple_ | No | Single base exchange | Normal |
| ||||||
| ARHGEF9 | Deleterious | 54|46 | simple_ | No | Single base exchange | Normal |
| ||||||
| ARHGEF9 | Deleterious | 54|46 | simple_ | No | Single base exchange | Normal |
| ||||||
| ARHGEF9 | Deleterious | 54|46 | simple_ | No | Single base exchange | Normal |
| ||||||
| ARHGEF9 | Deleterious | 54|46 | simple_ | No | Single base exchange | Normal |
| ||||||
| ARHGEF9 | Deleterious | 54|46 | simple_ | No | Single base exchange | Normal |
| ||||||
| ARHGEF9 | Deleterious | 54|46 | simple_ | No | Single base exchange | Normal |
| ||||||
| ARHGEF9 | Deleterious | 54|46 | simple_ | No | Single base exchange | Normal |
| ||||||
| ARHGEF9 | Deleterious | 54|46 | simple_ | No | Single base exchange | Normal |
| ||||||
| ARHGEF9 | Deleterious | 54|46 | simple_ | No | Single base exchange | Normal |
| ||||||
| ARHGEF9 | Deleterious | 54|46 | simple_ | No | Single base exchange | Normal |
| ||||||
| ARHGEF9 | Deleterious | 54|46 | simple_ | No | Single base exchange | Normal |
| ||||||
| ARHGEF9 | Deleterious | 54|46 | simple_ | No | Single base exchange | Normal |
| ||||||
| ARHGEF9 | Deleterious | 54|46 | simple_ | No | Single base exchange | Normal |
| ||||||
| ARHGEF9 | Deleterious | 54|46 | simple_ | No | Single base exchange | Normal |
| ||||||
| ARHGEF9 | Deleterious | 54|46 | simple_ | No | Single base exchange | Normal |
| ||||||
| ARHGEF9 | Deleterious | 54|46 | simple_ | No | Single base exchange | Normal |
| ||||||
| ARHGEF9 | Deleterious | 54|46 | simple_ | No | Single base exchange | Normal |
| ||||||
| ARHGEF9 | Deleterious | 54|46 | simple_ | No | Single base exchange | Normal |
| ||||||
| ARHGEF9 | Benign | 0|200 | without_ | No | Single base exchange | N/A | |||||||
| ARHGEF9 | Benign | 19|81 | 3utr | No | Single base exchange | N/A | |||||||
ENST00000671741(MANE Select) | ARHGEF9 | Benign | 41|59 | simple_ | No | Single base exchange | Normal |
|
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | ChrX:63638126C>T (GRCh38) | |||||||||||||
| Gene symbol | ARHGEF9 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000253401.10 | |||||||||||||
| Genbank transcript ID | NM_001369032 (by similarity), NM_001353924 (by similarity), NM_001353928 (by similarity), NM_015185 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | ARHG9_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1453G>A g.171149G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features |
| |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered gDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Original cDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered cDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Wildtype AA sequence | MTLLITGDSI VSAEAVWDHV TMANRELAFK AGDVIKVLDA SNKDWWWGQI DDEEGWFPAS FVRLWVNQED EVEEGPSDVQ NGHLDPNSDC LCLGRPLQNR DQMRANVINE IMSTERHYIK HLKDICEGYL KQCRKRRDMF SDEQLKVIFG NIEDIYRFQM GFVRDLEKQY NNDDPHLSEI GPCFLEHQDG FWIYSEYCNN HLDACMELSK LMKDSRYQHF FEACRLLQQM IDIAIDGFLL TPVQKICKYP LQLAELLKYT AQDHSDYRYV AAALAVMRNV TQQINERKRR LENIDKIAQW QASVLDWEGE DILDRSSELI YTGEMAWIYQ PYGRNQQRVF FLFDHQMVLC KKDLIRRDIL YYKGRIDMDK YEVVDIEDGR DDDFNVSMKN AFKLHNKETE EIHLFFAKKL EEKIRWLRAF REERKMVQED EKIGFEISEN QKRQAAMTVR KVPKQKGVNS ARSVPPSYPP PQDPLNHGQY LVPDGIAQSQ VFEFTEPKRS QSPFWQNFSR LTPFKK* | |||||||||||||
| Mutated AA sequence | MTLLITGDSI VSAEAVWDHV TMANRELAFK AGDVIKVLDA SNKDWWWGQI DDEEGWFPAS FVRLWVNQED EVEEGPSDVQ NGHLDPNSDC LCLGRPLQNR DQMRANVINE IMSTERHYIK HLKDICEGYL KQCRKRRDMF SDEQLKVIFG NIEDIYRFQM GFVRDLEKQY NNDDPHLSEI GPCFLEHQDG FWIYSEYCNN HLDACMELSK LMKDSRYQHF FEACRLLQQM IDIAIDGFLL TPVQKICKYP LQLAELLKYT AQDHSDYRYV AAALAVMRNV TQQINERKRR LENIDKIAQW QASVLDWEGE DILDRSSELI YTGEMAWIYQ PYGRNQQRVF FLFDHQMVLC KKDLIRRDIL YYKGRIDMDK YEVVDIEDGR DDDFNVSMKN AFKLHNKETE EIHLFFAKKL EEKIRWLRAF REERKMVQED EKIGFEISEN QKRQAAMTVR KVPKQKGVNS ARSVPPSYPP PQDPLNHGQY LVPDSIAQSQ VFEFTEPKRS QSPFWQNFSR LTPFKK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1551 / 1551 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 517 / 517 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2352 / 2352 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 802 / 802 | |||||||||||||
| Last intron/exon boundary | 2170 | |||||||||||||
| Theoretical NMD boundary in CDS | 1318 | |||||||||||||
| Length of CDS | 1551 | |||||||||||||
| Coding sequence (CDS) position | 1453 | |||||||||||||
| cDNA position | 2254 | |||||||||||||
| gDNA position | 171149 | |||||||||||||
| Chromosomal position | 63638126 | |||||||||||||
| Speed | 0.08 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | ChrX:63638126C>T (GRCh38) | |||||||||||||
| Gene symbol | ARHGEF9 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000374870.8 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1453G>A g.171149G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered gDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Original cDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered cDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Wildtype AA sequence | MTLLITGDSI VSAEAVWDHV TMANRELAFK AGDVIKVLDA SNKDWWWGQI DDEEGWFPAS FVRLWVNQED EVEEGPSDVQ NGHLDPNSDC LCLGRPLQNR DQMRANVINE IMSTERHYIK HLKDICEGYL KQCRKRRDMF SDEQLKVIFG NIEDIYRFQM GFVRDLEKQY NNDDPHLSEI GPCFLEHQDG FWIYSEYCNN HLDACMELSK LMKDSRYQHF FEACRLLQQM IDIAIDGFLL TPVQKICKYP LQLAELLKYT AQDHSDYRYV AAALAVMRNV TQQINERKRR LENIDKIAQW QASVLDWEGE DILDRSSELI YTGEMAWIYQ PYGRNQQRVF FLFDHQMVLC KKDLIRRDIL YYKGRIDMDK YEVVDIEDGR DDDFNVSMKN AFKLHNKETE EIHLFFAKKL EEKIRWLRAF REERKMVQED EKIGFEISEN QKRQAAMTVR KVPKQKGVNS ARSVPPSYPP PQDPLNHGQY LVPDGIAQSQ VFEFTEPKRS QSPFWQNFSR YCEGIKKPNR SKGVSDYDDA GVDFCSGNIL HSGCFFYHWG FPCCSTSGSL QFCI* | |||||||||||||
| Mutated AA sequence | MTLLITGDSI VSAEAVWDHV TMANRELAFK AGDVIKVLDA SNKDWWWGQI DDEEGWFPAS FVRLWVNQED EVEEGPSDVQ NGHLDPNSDC LCLGRPLQNR DQMRANVINE IMSTERHYIK HLKDICEGYL KQCRKRRDMF SDEQLKVIFG NIEDIYRFQM GFVRDLEKQY NNDDPHLSEI GPCFLEHQDG FWIYSEYCNN HLDACMELSK LMKDSRYQHF FEACRLLQQM IDIAIDGFLL TPVQKICKYP LQLAELLKYT AQDHSDYRYV AAALAVMRNV TQQINERKRR LENIDKIAQW QASVLDWEGE DILDRSSELI YTGEMAWIYQ PYGRNQQRVF FLFDHQMVLC KKDLIRRDIL YYKGRIDMDK YEVVDIEDGR DDDFNVSMKN AFKLHNKETE EIHLFFAKKL EEKIRWLRAF REERKMVQED EKIGFEISEN QKRQAAMTVR KVPKQKGVNS ARSVPPSYPP PQDPLNHGQY LVPDSIAQSQ VFEFTEPKRS QSPFWQNFSR YCEGIKKPNR SKGVSDYDDA GVDFCSGNIL HSGCFFYHWG FPCCSTSGSL QFCI* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1695 / 1695 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 565 / 565 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2472 / 2472 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 778 / 778 | |||||||||||||
| Last intron/exon boundary | 2306 | |||||||||||||
| Theoretical NMD boundary in CDS | 1478 | |||||||||||||
| Length of CDS | 1695 | |||||||||||||
| Coding sequence (CDS) position | 1453 | |||||||||||||
| cDNA position | 2230 | |||||||||||||
| gDNA position | 171149 | |||||||||||||
| Chromosomal position | 63638126 | |||||||||||||
| Speed | 0.08 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | ChrX:63638126C>T (GRCh38) | |||||||||||||
| Gene symbol | ARHGEF9 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000671907.1 | |||||||||||||
| Genbank transcript ID | NM_001369031 (by similarity), NM_001369039 (by similarity), NM_001369030 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | ARHG9_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1453G>A g.171149G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features |
| |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered gDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Original cDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered cDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Wildtype AA sequence | MTLLITGDSI VSAEAVWDHV TMANRELAFK AGDVIKVLDA SNKDWWWGQI DDEEGWFPAS FVRLWVNQED EVEEGPSDVQ NGHLDPNSDC LCLGRPLQNR DQMRANVINE IMSTERHYIK HLKDICEGYL KQCRKRRDMF SDEQLKVIFG NIEDIYRFQM GFVRDLEKQY NNDDPHLSEI GPCFLEHQDG FWIYSEYCNN HLDACMELSK LMKDSRYQHF FEACRLLQQM IDIAIDGFLL TPVQKICKYP LQLAELLKYT AQDHSDYRYV AAALAVMRNV TQQINERKRR LENIDKIAQW QASVLDWEGE DILDRSSELI YTGEMAWIYQ PYGRNQQRVF FLFDHQMVLC KKDLIRRDIL YYKGRIDMDK YEVVDIEDGR DDDFNVSMKN AFKLHNKETE EIHLFFAKKL EEKIRWLRAF REERKMVQED EKIGFEISEN QKRQAAMTVR KVPKQKGVNS ARSVPPSYPP PQDPLNHGQY LVPDGIAQSQ VFEFTEPKRS QSPFWQNFSR LTPFKK* | |||||||||||||
| Mutated AA sequence | MTLLITGDSI VSAEAVWDHV TMANRELAFK AGDVIKVLDA SNKDWWWGQI DDEEGWFPAS FVRLWVNQED EVEEGPSDVQ NGHLDPNSDC LCLGRPLQNR DQMRANVINE IMSTERHYIK HLKDICEGYL KQCRKRRDMF SDEQLKVIFG NIEDIYRFQM GFVRDLEKQY NNDDPHLSEI GPCFLEHQDG FWIYSEYCNN HLDACMELSK LMKDSRYQHF FEACRLLQQM IDIAIDGFLL TPVQKICKYP LQLAELLKYT AQDHSDYRYV AAALAVMRNV TQQINERKRR LENIDKIAQW QASVLDWEGE DILDRSSELI YTGEMAWIYQ PYGRNQQRVF FLFDHQMVLC KKDLIRRDIL YYKGRIDMDK YEVVDIEDGR DDDFNVSMKN AFKLHNKETE EIHLFFAKKL EEKIRWLRAF REERKMVQED EKIGFEISEN QKRQAAMTVR KVPKQKGVNS ARSVPPSYPP PQDPLNHGQY LVPDSIAQSQ VFEFTEPKRS QSPFWQNFSR LTPFKK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1551 / 1551 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 517 / 517 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2073 / 2073 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 523 / 523 | |||||||||||||
| Last intron/exon boundary | 1891 | |||||||||||||
| Theoretical NMD boundary in CDS | 1318 | |||||||||||||
| Length of CDS | 1551 | |||||||||||||
| Coding sequence (CDS) position | 1453 | |||||||||||||
| cDNA position | 1975 | |||||||||||||
| gDNA position | 171149 | |||||||||||||
| Chromosomal position | 63638126 | |||||||||||||
| 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 | ChrX:63638126C>T (GRCh38) | |||||||||||||
| Gene symbol | ARHGEF9 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000637040.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1267G>A g.171149G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered gDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Original cDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered cDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Wildtype AA sequence | MLWVNQEDEV EEGPSDVQNG HLDPNSDCLC LGRPLQNRDQ MRANVINEIM STERHYIKHL KDICEGYLKQ CRKRRDMFSD EQLKVIFGNI EDIYRFQMGF VRDLEKQYNN DDPHLSEIGP CFLEHQDGFW IYSEYCNNHL DACMELSKLM KDSRYQHFFE ACRLLQQMID IAIDGFLLTP VQKICKYPLQ LAELLKYTAQ DHSDYRYVAA ALAVMRNVTQ QINERKRRLE NIDKIAQWQA SVLDWEGEDI LDRSSELIYT GEMAWIYQPY GRNQQRVFFL FDHQMVLCKK DLIRRDILYY KGRIDMDKYE VVDIEDGRDD DFNVSMKNAF KLHNKETEEI HLFFAKKLEE KIRWLRAFRE ERKMVQEDEK IGFEISENQK RQAAMTVRKV PKQKGVNSAR SVPPSYPPPQ DPLNHGQYLV PDGIAQSQVF EFTEPKRSQS PFWQNFSRLT PFKK* | |||||||||||||
| Mutated AA sequence | MLWVNQEDEV EEGPSDVQNG HLDPNSDCLC LGRPLQNRDQ MRANVINEIM STERHYIKHL KDICEGYLKQ CRKRRDMFSD EQLKVIFGNI EDIYRFQMGF VRDLEKQYNN DDPHLSEIGP CFLEHQDGFW IYSEYCNNHL DACMELSKLM KDSRYQHFFE ACRLLQQMID IAIDGFLLTP VQKICKYPLQ LAELLKYTAQ DHSDYRYVAA ALAVMRNVTQ QINERKRRLE NIDKIAQWQA SVLDWEGEDI LDRSSELIYT GEMAWIYQPY GRNQQRVFFL FDHQMVLCKK DLIRRDILYY KGRIDMDKYE VVDIEDGRDD DFNVSMKNAF KLHNKETEEI HLFFAKKLEE KIRWLRAFRE ERKMVQEDEK IGFEISENQK RQAAMTVRKV PKQKGVNSAR SVPPSYPPPQ DPLNHGQYLV PDSIAQSQVF EFTEPKRSQS PFWQNFSRLT PFKK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1365 / 1365 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 455 / 455 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1976 / 1976 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 612 / 612 | |||||||||||||
| Last intron/exon boundary | 1794 | |||||||||||||
| Theoretical NMD boundary in CDS | 1132 | |||||||||||||
| Length of CDS | 1365 | |||||||||||||
| Coding sequence (CDS) position | 1267 | |||||||||||||
| cDNA position | 1878 | |||||||||||||
| gDNA position | 171149 | |||||||||||||
| Chromosomal position | 63638126 | |||||||||||||
| Speed | 0.08 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | ChrX:63638126C>T (GRCh38) | |||||||||||||
| Gene symbol | ARHGEF9 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000636048.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1390G>A g.171149G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered gDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Original cDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered cDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Wildtype AA sequence | MANRELAFKA GDVIKVLDAS NKDWWWGQID DEEGWFPASF VRLWVNQEDE VEEGPSDVQN GHLDPNSDCL CLGRPLQNRD QMRANVINEI MSTERHYIKH LKDICEGYLK QCRKRRDMFS DEQLKVIFGN IEDIYRFQMG FVRDLEKQYN NDDPHLSEIG PCFLEHQDGF WIYSEYCNNH LDACMELSKL MKDSRYQHFF EACRLLQQMI DIAIDGFLLT PVQKICKYPL QLAELLKYTA QDHSDYRYVA AALAVMRNVT QQINERKRRL ENIDKIAQWQ ASVLDWEGED ILDRSSELIY TGEMAWIYQP YGRNQQRVFF LFDHQMVLCK KDLIRRDILY YKGRIDMDKY EVVDIEDGRD DDFNVSMKNA FKLHNKETEE IHLFFAKKLE EKIRWLRAFR EERKMVQEDE KIGFEISENQ KRQAAMTVRK VPKQKGVNSA RSVPPSYPPP QDPLNHGQYL VPDGIAQSQV FEFTEPKRSQ SPFWQNFSRL TPFKK* | |||||||||||||
| Mutated AA sequence | MANRELAFKA GDVIKVLDAS NKDWWWGQID DEEGWFPASF VRLWVNQEDE VEEGPSDVQN GHLDPNSDCL CLGRPLQNRD QMRANVINEI MSTERHYIKH LKDICEGYLK QCRKRRDMFS DEQLKVIFGN IEDIYRFQMG FVRDLEKQYN NDDPHLSEIG PCFLEHQDGF WIYSEYCNNH LDACMELSKL MKDSRYQHFF EACRLLQQMI DIAIDGFLLT PVQKICKYPL QLAELLKYTA QDHSDYRYVA AALAVMRNVT QQINERKRRL ENIDKIAQWQ ASVLDWEGED ILDRSSELIY TGEMAWIYQP YGRNQQRVFF LFDHQMVLCK KDLIRRDILY YKGRIDMDKY EVVDIEDGRD DDFNVSMKNA FKLHNKETEE IHLFFAKKLE EKIRWLRAFR EERKMVQEDE KIGFEISENQ KRQAAMTVRK VPKQKGVNSA RSVPPSYPPP QDPLNHGQYL VPDSIAQSQV FEFTEPKRSQ SPFWQNFSRL TPFKK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1488 / 1488 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 496 / 496 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2034 / 2034 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 547 / 547 | |||||||||||||
| Last intron/exon boundary | 1852 | |||||||||||||
| Theoretical NMD boundary in CDS | 1255 | |||||||||||||
| Length of CDS | 1488 | |||||||||||||
| Coding sequence (CDS) position | 1390 | |||||||||||||
| cDNA position | 1936 | |||||||||||||
| gDNA position | 171149 | |||||||||||||
| Chromosomal position | 63638126 | |||||||||||||
| 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 | ChrX:63638126C>T (GRCh38) | |||||||||||||
| Gene symbol | ARHGEF9 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000638021.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1390G>A g.171149G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered gDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Original cDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered cDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Wildtype AA sequence | MANRELAFKA GDVIKVLDAS NKDWWWGQID DEEGWFPASF VRLWVNQEDE VEEGPSDVQN GHLDPNSDCL CLGRPLQNRD QMRANVINEI MSTERHYIKH LKDICEGYLK QCRKRRDMFS DEQLKVIFGN IEDIYRFQMG FVRDLEKQYN NDDPHLSEIG PCFLEHQDGF WIYSEYCNNH LDACMELSKL MKDSRYQHFF EACRLLQQMI DIAIDGFLLT PVQKICKYPL QLAELLKYTA QDHSDYRYVA AALAVMRNVT QQINERKRRL ENIDKIAQWQ ASVLDWEGED ILDRSSELIY TGEMAWIYQP YGRNQQRVFF LFDHQMVLCK KDLIRRDILY YKGRIDMDKY EVVDIEDGRD DDFNVSMKNA FKLHNKETEE IHLFFAKKLE EKIRWLRAFR EERKMVQEDE KIGFEISENQ KRQAAMTVRK VPKQKGVNSA RSVPPSYPPP QDPLNHGQYL VPDGIAQSQV FEFTEPKRSQ SPFWQNFSRC LGSIDRSMEG FKTEPT* | |||||||||||||
| Mutated AA sequence | MANRELAFKA GDVIKVLDAS NKDWWWGQID DEEGWFPASF VRLWVNQEDE VEEGPSDVQN GHLDPNSDCL CLGRPLQNRD QMRANVINEI MSTERHYIKH LKDICEGYLK QCRKRRDMFS DEQLKVIFGN IEDIYRFQMG FVRDLEKQYN NDDPHLSEIG PCFLEHQDGF WIYSEYCNNH LDACMELSKL MKDSRYQHFF EACRLLQQMI DIAIDGFLLT PVQKICKYPL QLAELLKYTA QDHSDYRYVA AALAVMRNVT QQINERKRRL ENIDKIAQWQ ASVLDWEGED ILDRSSELIY TGEMAWIYQP YGRNQQRVFF LFDHQMVLCK KDLIRRDILY YKGRIDMDKY EVVDIEDGRD DDFNVSMKNA FKLHNKETEE IHLFFAKKLE EKIRWLRAFR EERKMVQEDE KIGFEISENQ KRQAAMTVRK VPKQKGVNSA RSVPPSYPPP QDPLNHGQYL VPDSIAQSQV FEFTEPKRSQ SPFWQNFSRC LGSIDRSMEG FKTEPT* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1521 / 1521 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 507 / 507 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2016 / 2016 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 496 / 496 | |||||||||||||
| Last intron/exon boundary | 1961 | |||||||||||||
| Theoretical NMD boundary in CDS | 1415 | |||||||||||||
| Length of CDS | 1521 | |||||||||||||
| Coding sequence (CDS) position | 1390 | |||||||||||||
| cDNA position | 1885 | |||||||||||||
| gDNA position | 171149 | |||||||||||||
| Chromosomal position | 63638126 | |||||||||||||
| Speed | 0.08 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | ChrX:63638126C>T (GRCh38) | |||||||||||||
| Gene symbol | ARHGEF9 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000672513.1 | |||||||||||||
| Genbank transcript ID | NM_001369041 (by similarity), NM_001369045 (by similarity), NM_001353927 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1258G>A g.171149G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered gDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Original cDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered cDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Wildtype AA sequence | MANRELAFKA GDVIKVLDAS NKDWWWGQID DEEGWFPASF VRLWVNQEDE VEEGPSDVQN GHLDPNSDCL CLGRPLQNRD QMRANVINEI MSTERHYIKH LKDICEGYLK QCRKRRDMFS DEQLKVIFGN IEDIYRFQMG FVRDLEKQYN NDDPHLSEIG PCFLEHQDGF WIYSEYCNNH LDACMELSKL MKDSRYQHFF EACRLLQQMI DIAIDGFLLT PVQKICKYPL QLAELLKYTA QDHSDYRYVA AALAVMRNVT QQINERKRRL ENIDKIAQWQ ASVLDWEDLI RRDILYYKGR IDMDKYEVVD IEDGRDDDFN VSMKNAFKLH NKETEEIHLF FAKKLEEKIR WLRAFREERK MVQEDEKIGF EISENQKRQA AMTVRKVPKQ KGVNSARSVP PSYPPPQDPL NHGQYLVPDG IAQSQVFEFT EPKRSQSPFW QNFSRLTPFK K* | |||||||||||||
| Mutated AA sequence | MANRELAFKA GDVIKVLDAS NKDWWWGQID DEEGWFPASF VRLWVNQEDE VEEGPSDVQN GHLDPNSDCL CLGRPLQNRD QMRANVINEI MSTERHYIKH LKDICEGYLK QCRKRRDMFS DEQLKVIFGN IEDIYRFQMG FVRDLEKQYN NDDPHLSEIG PCFLEHQDGF WIYSEYCNNH LDACMELSKL MKDSRYQHFF EACRLLQQMI DIAIDGFLLT PVQKICKYPL QLAELLKYTA QDHSDYRYVA AALAVMRNVT QQINERKRRL ENIDKIAQWQ ASVLDWEDLI RRDILYYKGR IDMDKYEVVD IEDGRDDDFN VSMKNAFKLH NKETEEIHLF FAKKLEEKIR WLRAFREERK MVQEDEKIGF EISENQKRQA AMTVRKVPKQ KGVNSARSVP PSYPPPQDPL NHGQYLVPDS IAQSQVFEFT EPKRSQSPFW QNFSRLTPFK K* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1356 / 1356 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 452 / 452 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1861 / 1861 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 506 / 506 | |||||||||||||
| Last intron/exon boundary | 1679 | |||||||||||||
| Theoretical NMD boundary in CDS | 1123 | |||||||||||||
| Length of CDS | 1356 | |||||||||||||
| Coding sequence (CDS) position | 1258 | |||||||||||||
| cDNA position | 1763 | |||||||||||||
| gDNA position | 171149 | |||||||||||||
| Chromosomal position | 63638126 | |||||||||||||
| 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 | ChrX:63638126C>T (GRCh38) | |||||||||||||
| Gene symbol | ARHGEF9 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000624538.2 | |||||||||||||
| Genbank transcript ID | NM_001369043 (by similarity), NM_001330495 (by similarity), NM_001369038 (by similarity), NM_001369034 (by similarity), NM_001369033 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1390G>A g.171149G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered gDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Original cDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered cDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Wildtype AA sequence | MANRELAFKA GDVIKVLDAS NKDWWWGQID DEEGWFPASF VRLWVNQEDE VEEGPSDVQN GHLDPNSDCL CLGRPLQNRD QMRANVINEI MSTERHYIKH LKDICEGYLK QCRKRRDMFS DEQLKVIFGN IEDIYRFQMG FVRDLEKQYN NDDPHLSEIG PCFLEHQDGF WIYSEYCNNH LDACMELSKL MKDSRYQHFF EACRLLQQMI DIAIDGFLLT PVQKICKYPL QLAELLKYTA QDHSDYRYVA AALAVMRNVT QQINERKRRL ENIDKIAQWQ ASVLDWEGED ILDRSSELIY TGEMAWIYQP YGRNQQRVFF LFDHQMVLCK KDLIRRDILY YKGRIDMDKY EVVDIEDGRD DDFNVSMKNA FKLHNKETEE IHLFFAKKLE EKIRWLRAFR EERKMVQEDE KIGFEISENQ KRQAAMTVRK VPKQKGVNSA RSVPPSYPPP QDPLNHGQYL VPDGIAQSQV FEFTEPKRSQ SPFWQNFSRL TPFKK* | |||||||||||||
| Mutated AA sequence | MANRELAFKA GDVIKVLDAS NKDWWWGQID DEEGWFPASF VRLWVNQEDE VEEGPSDVQN GHLDPNSDCL CLGRPLQNRD QMRANVINEI MSTERHYIKH LKDICEGYLK QCRKRRDMFS DEQLKVIFGN IEDIYRFQMG FVRDLEKQYN NDDPHLSEIG PCFLEHQDGF WIYSEYCNNH LDACMELSKL MKDSRYQHFF EACRLLQQMI DIAIDGFLLT PVQKICKYPL QLAELLKYTA QDHSDYRYVA AALAVMRNVT QQINERKRRL ENIDKIAQWQ ASVLDWEGED ILDRSSELIY TGEMAWIYQP YGRNQQRVFF LFDHQMVLCK KDLIRRDILY YKGRIDMDKY EVVDIEDGRD DDFNVSMKNA FKLHNKETEE IHLFFAKKLE EKIRWLRAFR EERKMVQEDE KIGFEISENQ KRQAAMTVRK VPKQKGVNSA RSVPPSYPPP QDPLNHGQYL VPDSIAQSQV FEFTEPKRSQ SPFWQNFSRL TPFKK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1488 / 1488 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 496 / 496 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2260 / 2260 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 773 / 773 | |||||||||||||
| Last intron/exon boundary | 2078 | |||||||||||||
| Theoretical NMD boundary in CDS | 1255 | |||||||||||||
| Length of CDS | 1488 | |||||||||||||
| Coding sequence (CDS) position | 1390 | |||||||||||||
| cDNA position | 2162 | |||||||||||||
| gDNA position | 171149 | |||||||||||||
| Chromosomal position | 63638126 | |||||||||||||
| Speed | 0.08 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | ChrX:63638126C>T (GRCh38) | |||||||||||||
| Gene symbol | ARHGEF9 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000672194.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1372G>A g.171149G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered gDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Original cDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered cDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Wildtype AA sequence | MHSYNIVKNK VIISWHQQAT PGMWATVTSA TGEWGMLWVN QEDEVEEGPS DVQNGHLDPN SDCLCLGRPL QNRDQMRANV INEIMSTERH YIKHLKDICE GYLKQCRKRR DMFSDEQLKV IFGNIEDIYR FQMGFVRDLE KQYNNDDPHL SEIGPCFLEH QDGFWIYSEY CNNHLDACME LSKLMKDSRY QHFFEACRLL QQMIDIAIDG FLLTPVQKIC KYPLQLAELL KYTAQDHSDY RYVAAALAVM RNVTQQINER KRRLENIDKI AQWQASVLDW EGEDILDRSS ELIYTGEMAW IYQPYGRNQQ RVFFLFDHQM VLCKKDLIRR DILYYKGRID MDKYEVVDIE DGRDDDFNVS MKNAFKLHNK ETEEIHLFFA KKLEEKIRWL RAFREERKMV QEDEKIGFEI SENQKRQAAM TVRKVPKQKG VNSARSVPPS YPPPQDPLNH GQYLVPDGIA QSQVFEFTEP KRSQSPFWQN FSRLTPFKK* | |||||||||||||
| Mutated AA sequence | MHSYNIVKNK VIISWHQQAT PGMWATVTSA TGEWGMLWVN QEDEVEEGPS DVQNGHLDPN SDCLCLGRPL QNRDQMRANV INEIMSTERH YIKHLKDICE GYLKQCRKRR DMFSDEQLKV IFGNIEDIYR FQMGFVRDLE KQYNNDDPHL SEIGPCFLEH QDGFWIYSEY CNNHLDACME LSKLMKDSRY QHFFEACRLL QQMIDIAIDG FLLTPVQKIC KYPLQLAELL KYTAQDHSDY RYVAAALAVM RNVTQQINER KRRLENIDKI AQWQASVLDW EGEDILDRSS ELIYTGEMAW IYQPYGRNQQ RVFFLFDHQM VLCKKDLIRR DILYYKGRID MDKYEVVDIE DGRDDDFNVS MKNAFKLHNK ETEEIHLFFA KKLEEKIRWL RAFREERKMV QEDEKIGFEI SENQKRQAAM TVRKVPKQKG VNSARSVPPS YPPPQDPLNH GQYLVPDSIA QSQVFEFTEP KRSQSPFWQN FSRLTPFKK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1470 / 1470 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 490 / 490 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2100 / 2100 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 631 / 631 | |||||||||||||
| Last intron/exon boundary | 1918 | |||||||||||||
| Theoretical NMD boundary in CDS | 1237 | |||||||||||||
| Length of CDS | 1470 | |||||||||||||
| Coding sequence (CDS) position | 1372 | |||||||||||||
| cDNA position | 2002 | |||||||||||||
| gDNA position | 171149 | |||||||||||||
| Chromosomal position | 63638126 | |||||||||||||
| Speed | 0.08 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | ChrX:63638126C>T (GRCh38) | |||||||||||||
| Gene symbol | ARHGEF9 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000637520.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1390G>A g.171149G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered gDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Original cDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered cDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Wildtype AA sequence | MANRELAFKA GDVIKVLDAS NKDWWWGQID DEEGWFPASF VRLWVNQEDE VEEGPSDVQN GHLDPNSDCL CLGRPLQNRD QMRANVINEI MSTERHYIKH LKDICEGYLK QCRKRRDMFS DEQLKVIFGN IEDIYRFQMG FVRDLEKQYN NDDPHLSEIG PCFLEHQDGF WIYSEYCNNH LDACMELSKL MKDSRYQHFF EACRLLQQMI DIAIDGFLLT PVQKICKYPL QLAELLKYTA QDHSDYRYVA AALAVMRNVT QQINERKRRL ENIDKIAQWQ ASVLDWEGED ILDRSSELIY TGEMAWIYQP YGRNQQRVFF LFDHQMVLCK KDLIRRDILY YKGRIDMDKY EVVDIEDGRD DDFNVSMKNA FKLHNKETEE IHLFFAKKLE EKIRWLRAFR EERKMVQEDE KIGFEISENQ KRQAAMTVRK VPKQKGVNSA RSVPPSYPPP QDPLNHGQYL VPDGIAQSQV FEFTEPKRSQ SPFWQNFSRL TPFKK* | |||||||||||||
| Mutated AA sequence | MANRELAFKA GDVIKVLDAS NKDWWWGQID DEEGWFPASF VRLWVNQEDE VEEGPSDVQN GHLDPNSDCL CLGRPLQNRD QMRANVINEI MSTERHYIKH LKDICEGYLK QCRKRRDMFS DEQLKVIFGN IEDIYRFQMG FVRDLEKQYN NDDPHLSEIG PCFLEHQDGF WIYSEYCNNH LDACMELSKL MKDSRYQHFF EACRLLQQMI DIAIDGFLLT PVQKICKYPL QLAELLKYTA QDHSDYRYVA AALAVMRNVT QQINERKRRL ENIDKIAQWQ ASVLDWEGED ILDRSSELIY TGEMAWIYQP YGRNQQRVFF LFDHQMVLCK KDLIRRDILY YKGRIDMDKY EVVDIEDGRD DDFNVSMKNA FKLHNKETEE IHLFFAKKLE EKIRWLRAFR EERKMVQEDE KIGFEISENQ KRQAAMTVRK VPKQKGVNSA RSVPPSYPPP QDPLNHGQYL VPDSIAQSQV FEFTEPKRSQ SPFWQNFSRL TPFKK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1488 / 1488 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 496 / 496 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2669 / 2669 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 1182 / 1182 | |||||||||||||
| Last intron/exon boundary | 2487 | |||||||||||||
| Theoretical NMD boundary in CDS | 1255 | |||||||||||||
| Length of CDS | 1488 | |||||||||||||
| Coding sequence (CDS) position | 1390 | |||||||||||||
| cDNA position | 2571 | |||||||||||||
| gDNA position | 171149 | |||||||||||||
| Chromosomal position | 63638126 | |||||||||||||
| Speed | 0.09 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | ChrX:63638126C>T (GRCh38) | |||||||||||||
| Gene symbol | ARHGEF9 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000637417.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1390G>A g.171149G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered gDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Original cDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered cDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Wildtype AA sequence | MANRELAFKA GDVIKVLDAS NKDWWWGQID DEEGWFPASF VRLWVNQEDE VEEGPSDVQN GHLDPNSDCL CLGRPLQNRD QMRANVINEI MSTERHYIKH LKDICEGYLK QCRKRRDMFS DEQLKVIFGN IEDIYRFQMG FVRDLEKQYN NDDPHLSEIG PCFLEHQDGF WIYSEYCNNH LDACMELSKL MKDSRYQHFF EACRLLQQMI DIAIDGFLLT PVQKICKYPL QLAELLKYTA QDHSDYRYVA AALAVMRNVT QQINERKRRL ENIDKIAQWQ ASVLDWEGED ILDRSSELIY TGEMAWIYQP YGRNQQRVFF LFDHQMVLCK KDLIRRDILY YKGRIDMDKY EVVDIEDGRD DDFNVSMKNA FKLHNKETEE IHLFFAKKLE EKIRWLRAFR EERKMVQEDE KIGFEISENQ KRQAAMTVRK VPKQKGVNSA RSVPPSYPPP QDPLNHGQYL VPDGIAQSQV FEFTEPKRSQ SPFWQNFSRL TPFKK* | |||||||||||||
| Mutated AA sequence | MANRELAFKA GDVIKVLDAS NKDWWWGQID DEEGWFPASF VRLWVNQEDE VEEGPSDVQN GHLDPNSDCL CLGRPLQNRD QMRANVINEI MSTERHYIKH LKDICEGYLK QCRKRRDMFS DEQLKVIFGN IEDIYRFQMG FVRDLEKQYN NDDPHLSEIG PCFLEHQDGF WIYSEYCNNH LDACMELSKL MKDSRYQHFF EACRLLQQMI DIAIDGFLLT PVQKICKYPL QLAELLKYTA QDHSDYRYVA AALAVMRNVT QQINERKRRL ENIDKIAQWQ ASVLDWEGED ILDRSSELIY TGEMAWIYQP YGRNQQRVFF LFDHQMVLCK KDLIRRDILY YKGRIDMDKY EVVDIEDGRD DDFNVSMKNA FKLHNKETEE IHLFFAKKLE EKIRWLRAFR EERKMVQEDE KIGFEISENQ KRQAAMTVRK VPKQKGVNSA RSVPPSYPPP QDPLNHGQYL VPDSIAQSQV FEFTEPKRSQ SPFWQNFSRL TPFKK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1488 / 1488 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 496 / 496 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2247 / 2247 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 760 / 760 | |||||||||||||
| Last intron/exon boundary | 2065 | |||||||||||||
| Theoretical NMD boundary in CDS | 1255 | |||||||||||||
| Length of CDS | 1488 | |||||||||||||
| Coding sequence (CDS) position | 1390 | |||||||||||||
| cDNA position | 2149 | |||||||||||||
| gDNA position | 171149 | |||||||||||||
| Chromosomal position | 63638126 | |||||||||||||
| Speed | 0.08 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | ChrX:63638126C>T (GRCh38) | |||||||||||||
| Gene symbol | ARHGEF9 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000637557.1 | |||||||||||||
| Genbank transcript ID | NM_001369036 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1390G>A g.171149G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered gDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Original cDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered cDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Wildtype AA sequence | MANRELAFKA GDVIKVLDAS NKDWWWGQID DEEGWFPASF VRLWVNQEDE VEEGPSDVQN GHLDPNSDCL CLGRPLQNRD QMRANVINEI MSTERHYIKH LKDICEGYLK QCRKRRDMFS DEQLKVIFGN IEDIYRFQMG FVRDLEKQYN NDDPHLSEIG PCFLEHQDGF WIYSEYCNNH LDACMELSKL MKDSRYQHFF EACRLLQQMI DIAIDGFLLT PVQKICKYPL QLAELLKYTA QDHSDYRYVA AALAVMRNVT QQINERKRRL ENIDKIAQWQ ASVLDWEGED ILDRSSELIY TGEMAWIYQP YGRNQQRVFF LFDHQMVLCK KDLIRRDILY YKGRIDMDKY EVVDIEDGRD DDFNVSMKNA FKLHNKETEE IHLFFAKKLE EKIRWLRAFR EERKMVQEDE KIGFEISENQ KRQAAMTVRK VPKQKGVNSA RSVPPSYPPP QDPLNHGQYL VPDGIAQSQV FEFTEPKRSQ SPFWQNFSRL TPFKK* | |||||||||||||
| Mutated AA sequence | MANRELAFKA GDVIKVLDAS NKDWWWGQID DEEGWFPASF VRLWVNQEDE VEEGPSDVQN GHLDPNSDCL CLGRPLQNRD QMRANVINEI MSTERHYIKH LKDICEGYLK QCRKRRDMFS DEQLKVIFGN IEDIYRFQMG FVRDLEKQYN NDDPHLSEIG PCFLEHQDGF WIYSEYCNNH LDACMELSKL MKDSRYQHFF EACRLLQQMI DIAIDGFLLT PVQKICKYPL QLAELLKYTA QDHSDYRYVA AALAVMRNVT QQINERKRRL ENIDKIAQWQ ASVLDWEGED ILDRSSELIY TGEMAWIYQP YGRNQQRVFF LFDHQMVLCK KDLIRRDILY YKGRIDMDKY EVVDIEDGRD DDFNVSMKNA FKLHNKETEE IHLFFAKKLE EKIRWLRAFR EERKMVQEDE KIGFEISENQ KRQAAMTVRK VPKQKGVNSA RSVPPSYPPP QDPLNHGQYL VPDSIAQSQV FEFTEPKRSQ SPFWQNFSRL TPFKK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1488 / 1488 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 496 / 496 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2046 / 2046 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 559 / 559 | |||||||||||||
| Last intron/exon boundary | 1864 | |||||||||||||
| Theoretical NMD boundary in CDS | 1255 | |||||||||||||
| Length of CDS | 1488 | |||||||||||||
| Coding sequence (CDS) position | 1390 | |||||||||||||
| cDNA position | 1948 | |||||||||||||
| gDNA position | 171149 | |||||||||||||
| Chromosomal position | 63638126 | |||||||||||||
| Speed | 0.08 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | ChrX:63638126C>T (GRCh38) | |||||||||||||
| Gene symbol | ARHGEF9 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000623517.3 | |||||||||||||
| Genbank transcript ID | NM_001173479 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | ARHG9_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1294G>A g.171149G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features |
| |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered gDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Original cDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered cDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Wildtype AA sequence | MQWIRGGSGM LWVNQEDEVE EGPSDVQNGH LDPNSDCLCL GRPLQNRDQM RANVINEIMS TERHYIKHLK DICEGYLKQC RKRRDMFSDE QLKVIFGNIE DIYRFQMGFV RDLEKQYNND DPHLSEIGPC FLEHQDGFWI YSEYCNNHLD ACMELSKLMK DSRYQHFFEA CRLLQQMIDI AIDGFLLTPV QKICKYPLQL AELLKYTAQD HSDYRYVAAA LAVMRNVTQQ INERKRRLEN IDKIAQWQAS VLDWEGEDIL DRSSELIYTG EMAWIYQPYG RNQQRVFFLF DHQMVLCKKD LIRRDILYYK GRIDMDKYEV VDIEDGRDDD FNVSMKNAFK LHNKETEEIH LFFAKKLEEK IRWLRAFREE RKMVQEDEKI GFEISENQKR QAAMTVRKVP KQKGVNSARS VPPSYPPPQD PLNHGQYLVP DGIAQSQVFE FTEPKRSQSP FWQNFSRLTP FKK* | |||||||||||||
| Mutated AA sequence | MQWIRGGSGM LWVNQEDEVE EGPSDVQNGH LDPNSDCLCL GRPLQNRDQM RANVINEIMS TERHYIKHLK DICEGYLKQC RKRRDMFSDE QLKVIFGNIE DIYRFQMGFV RDLEKQYNND DPHLSEIGPC FLEHQDGFWI YSEYCNNHLD ACMELSKLMK DSRYQHFFEA CRLLQQMIDI AIDGFLLTPV QKICKYPLQL AELLKYTAQD HSDYRYVAAA LAVMRNVTQQ INERKRRLEN IDKIAQWQAS VLDWEGEDIL DRSSELIYTG EMAWIYQPYG RNQQRVFFLF DHQMVLCKKD LIRRDILYYK GRIDMDKYEV VDIEDGRDDD FNVSMKNAFK LHNKETEEIH LFFAKKLEEK IRWLRAFREE RKMVQEDEKI GFEISENQKR QAAMTVRKVP KQKGVNSARS VPPSYPPPQD PLNHGQYLVP DSIAQSQVFE FTEPKRSQSP FWQNFSRLTP FKK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1392 / 1392 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 464 / 464 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1805 / 1805 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 414 / 414 | |||||||||||||
| Last intron/exon boundary | 1623 | |||||||||||||
| Theoretical NMD boundary in CDS | 1159 | |||||||||||||
| Length of CDS | 1392 | |||||||||||||
| Coding sequence (CDS) position | 1294 | |||||||||||||
| cDNA position | 1707 | |||||||||||||
| gDNA position | 171149 | |||||||||||||
| Chromosomal position | 63638126 | |||||||||||||
| Speed | 0.08 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | ChrX:63638126C>T (GRCh38) | |||||||||||||
| Gene symbol | ARHGEF9 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000624210.3 | |||||||||||||
| Genbank transcript ID | NM_001369044 (by similarity), NM_001369035 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1390G>A g.171149G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered gDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Original cDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered cDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Wildtype AA sequence | MANRELAFKA GDVIKVLDAS NKDWWWGQID DEEGWFPASF VRLWVNQEDE VEEGPSDVQN GHLDPNSDCL CLGRPLQNRD QMRANVINEI MSTERHYIKH LKDICEGYLK QCRKRRDMFS DEQLKVIFGN IEDIYRFQMG FVRDLEKQYN NDDPHLSEIG PCFLEHQDGF WIYSEYCNNH LDACMELSKL MKDSRYQHFF EACRLLQQMI DIAIDGFLLT PVQKICKYPL QLAELLKYTA QDHSDYRYVA AALAVMRNVT QQINERKRRL ENIDKIAQWQ ASVLDWEGED ILDRSSELIY TGEMAWIYQP YGRNQQRVFF LFDHQMVLCK KDLIRRDILY YKGRIDMDKY EVVDIEDGRD DDFNVSMKNA FKLHNKETEE IHLFFAKKLE EKIRWLRAFR EERKMVQEDE KIGFEISENQ KRQAAMTVRK VPKQKGVNSA RSVPPSYPPP QDPLNHGQYL VPDGIAQSQV FEFTEPKRSQ SPFWQNFSRL TPFKK* | |||||||||||||
| Mutated AA sequence | MANRELAFKA GDVIKVLDAS NKDWWWGQID DEEGWFPASF VRLWVNQEDE VEEGPSDVQN GHLDPNSDCL CLGRPLQNRD QMRANVINEI MSTERHYIKH LKDICEGYLK QCRKRRDMFS DEQLKVIFGN IEDIYRFQMG FVRDLEKQYN NDDPHLSEIG PCFLEHQDGF WIYSEYCNNH LDACMELSKL MKDSRYQHFF EACRLLQQMI DIAIDGFLLT PVQKICKYPL QLAELLKYTA QDHSDYRYVA AALAVMRNVT QQINERKRRL ENIDKIAQWQ ASVLDWEGED ILDRSSELIY TGEMAWIYQP YGRNQQRVFF LFDHQMVLCK KDLIRRDILY YKGRIDMDKY EVVDIEDGRD DDFNVSMKNA FKLHNKETEE IHLFFAKKLE EKIRWLRAFR EERKMVQEDE KIGFEISENQ KRQAAMTVRK VPKQKGVNSA RSVPPSYPPP QDPLNHGQYL VPDSIAQSQV FEFTEPKRSQ SPFWQNFSRL TPFKK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1488 / 1488 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 496 / 496 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1700 / 1700 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 213 / 213 | |||||||||||||
| Last intron/exon boundary | 1518 | |||||||||||||
| Theoretical NMD boundary in CDS | 1255 | |||||||||||||
| Length of CDS | 1488 | |||||||||||||
| Coding sequence (CDS) position | 1390 | |||||||||||||
| cDNA position | 1602 | |||||||||||||
| gDNA position | 171149 | |||||||||||||
| Chromosomal position | 63638126 | |||||||||||||
| 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 | ChrX:63638126C>T (GRCh38) | |||||||||||||
| Gene symbol | ARHGEF9 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000635729.1 | |||||||||||||
| Genbank transcript ID | NM_001353923 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1492G>A g.171149G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered gDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Original cDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered cDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Wildtype AA sequence | MSVALAAPHA SARSRSLITG DSIVSAEAVW DHVTMANREL AFKAGDVIKV LDASNKDWWW GQIDDEEGWF PASFVRLWVN QEDEVEEGPS DVQNGHLDPN SDCLCLGRPL QNRDQMRANV INEIMSTERH YIKHLKDICE GYLKQCRKRR DMFSDEQLKV IFGNIEDIYR FQMGFVRDLE KQYNNDDPHL SEIGPCFLEH QDGFWIYSEY CNNHLDACME LSKLMKDSRY QHFFEACRLL QQMIDIAIDG FLLTPVQKIC KYPLQLAELL KYTAQDHSDY RYVAAALAVM RNVTQQINER KRRLENIDKI AQWQASVLDW EGEDILDRSS ELIYTGEMAW IYQPYGRNQQ RVFFLFDHQM VLCKKDLIRR DILYYKGRID MDKYEVVDIE DGRDDDFNVS MKNAFKLHNK ETEEIHLFFA KKLEEKIRWL RAFREERKMV QEDEKIGFEI SENQKRQAAM TVRKVPKQKG VNSARSVPPS YPPPQDPLNH GQYLVPDGIA QSQVFEFTEP KRSQSPFWQN FSRLTPFKK* | |||||||||||||
| Mutated AA sequence | MSVALAAPHA SARSRSLITG DSIVSAEAVW DHVTMANREL AFKAGDVIKV LDASNKDWWW GQIDDEEGWF PASFVRLWVN QEDEVEEGPS DVQNGHLDPN SDCLCLGRPL QNRDQMRANV INEIMSTERH YIKHLKDICE GYLKQCRKRR DMFSDEQLKV IFGNIEDIYR FQMGFVRDLE KQYNNDDPHL SEIGPCFLEH QDGFWIYSEY CNNHLDACME LSKLMKDSRY QHFFEACRLL QQMIDIAIDG FLLTPVQKIC KYPLQLAELL KYTAQDHSDY RYVAAALAVM RNVTQQINER KRRLENIDKI AQWQASVLDW EGEDILDRSS ELIYTGEMAW IYQPYGRNQQ RVFFLFDHQM VLCKKDLIRR DILYYKGRID MDKYEVVDIE DGRDDDFNVS MKNAFKLHNK ETEEIHLFFA KKLEEKIRWL RAFREERKMV QEDEKIGFEI SENQKRQAAM TVRKVPKQKG VNSARSVPPS YPPPQDPLNH GQYLVPDSIA QSQVFEFTEP KRSQSPFWQN FSRLTPFKK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1590 / 1590 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 530 / 530 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1601 / 1601 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 12 / 12 | |||||||||||||
| Last intron/exon boundary | 1419 | |||||||||||||
| Theoretical NMD boundary in CDS | 1357 | |||||||||||||
| Length of CDS | 1590 | |||||||||||||
| Coding sequence (CDS) position | 1492 | |||||||||||||
| cDNA position | 1503 | |||||||||||||
| gDNA position | 171149 | |||||||||||||
| Chromosomal position | 63638126 | |||||||||||||
| Speed | 0.09 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | ChrX:63638126C>T (GRCh38) | |||||||||||||
| Gene symbol | ARHGEF9 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000637723.2 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1390G>A g.171149G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered gDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Original cDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered cDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Wildtype AA sequence | MANRELAFKA GDVIKVLDAS NKDWWWGQID DEEGWFPASF VRLWVNQEDE VEEGPSDVQN GHLDPNSDCL CLGRPLQNRD QMRANVINEI MSTERHYIKH LKDICEGYLK QCRKRRDMFS DEQLKVIFGN IEDIYRFQMG FVRDLEKQYN NDDPHLSEIG PCFLEHQDGF WIYSEYCNNH LDACMELSKL MKDSRYQHFF EACRLLQQMI DIAIDGFLLT PVQKICKYPL QLAELLKYTA QDHSDYRYVA AALAVMRNVT QQINERKRRL ENIDKIAQWQ ASVLDWEGED ILDRSSELIY TGEMAWIYQP YGRNQQRVFF LFDHQMVLCK KDLIRRDILY YKGRIDMDKY EVVDIEDGRD DDFNVSMKNA FKLHNKETEE IHLFFAKKLE EKIRWLRAFR EERKMVQEDE KIGFEISENQ KRQAAMTVRK VPKQKGVNSA RSVPPSYPPP QDPLNHGQYL VPDGIAQSQV FEFTEPKRSQ SPFWQNFSRL TPFKK* | |||||||||||||
| Mutated AA sequence | MANRELAFKA GDVIKVLDAS NKDWWWGQID DEEGWFPASF VRLWVNQEDE VEEGPSDVQN GHLDPNSDCL CLGRPLQNRD QMRANVINEI MSTERHYIKH LKDICEGYLK QCRKRRDMFS DEQLKVIFGN IEDIYRFQMG FVRDLEKQYN NDDPHLSEIG PCFLEHQDGF WIYSEYCNNH LDACMELSKL MKDSRYQHFF EACRLLQQMI DIAIDGFLLT PVQKICKYPL QLAELLKYTA QDHSDYRYVA AALAVMRNVT QQINERKRRL ENIDKIAQWQ ASVLDWEGED ILDRSSELIY TGEMAWIYQP YGRNQQRVFF LFDHQMVLCK KDLIRRDILY YKGRIDMDKY EVVDIEDGRD DDFNVSMKNA FKLHNKETEE IHLFFAKKLE EKIRWLRAFR EERKMVQEDE KIGFEISENQ KRQAAMTVRK VPKQKGVNSA RSVPPSYPPP QDPLNHGQYL VPDSIAQSQV FEFTEPKRSQ SPFWQNFSRL TPFKK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1488 / 1488 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 496 / 496 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2084 / 2084 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 597 / 597 | |||||||||||||
| Last intron/exon boundary | 1902 | |||||||||||||
| Theoretical NMD boundary in CDS | 1255 | |||||||||||||
| Length of CDS | 1488 | |||||||||||||
| Coding sequence (CDS) position | 1390 | |||||||||||||
| cDNA position | 1986 | |||||||||||||
| gDNA position | 171149 | |||||||||||||
| Chromosomal position | 63638126 | |||||||||||||
| Speed | 0.08 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | ChrX:63638126C>T (GRCh38) | |||||||||||||
| Gene symbol | ARHGEF9 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000637178.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1390G>A g.171149G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered gDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Original cDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered cDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Wildtype AA sequence | MANRELAFKA GDVIKVLDAS NKDWWWGQID DEEGWFPASF VRLWVNQEDE VEEGPSDVQN GHLDPNSDCL CLGRPLQNRD QMRANVINEI MSTERHYIKH LKDICEGYLK QCRKRRDMFS DEQLKVIFGN IEDIYRFQMG FVRDLEKQYN NDDPHLSEIG PCFLEHQDGF WIYSEYCNNH LDACMELSKL MKDSRYQHFF EACRLLQQMI DIAIDGFLLT PVQKICKYPL QLAELLKYTA QDHSDYRYVA AALAVMRNVT QQINERKRRL ENIDKIAQWQ ASVLDWEGED ILDRSSELIY TGEMAWIYQP YGRNQQRVFF LFDHQMVLCK KDLIRRDILY YKGRIDMDKY EVVDIEDGRD DDFNVSMKNA FKLHNKETEE IHLFFAKKLE EKIRWLRAFR EERKMVQEDE KIGFEISENQ KRQAAMTVRK VPKQKGVNSA RSVPPSYPPP QDPLNHGQYL VPDGIAQSQV FEFTEPKRSQ SPFWQNFSRL TPFKK* | |||||||||||||
| Mutated AA sequence | MANRELAFKA GDVIKVLDAS NKDWWWGQID DEEGWFPASF VRLWVNQEDE VEEGPSDVQN GHLDPNSDCL CLGRPLQNRD QMRANVINEI MSTERHYIKH LKDICEGYLK QCRKRRDMFS DEQLKVIFGN IEDIYRFQMG FVRDLEKQYN NDDPHLSEIG PCFLEHQDGF WIYSEYCNNH LDACMELSKL MKDSRYQHFF EACRLLQQMI DIAIDGFLLT PVQKICKYPL QLAELLKYTA QDHSDYRYVA AALAVMRNVT QQINERKRRL ENIDKIAQWQ ASVLDWEGED ILDRSSELIY TGEMAWIYQP YGRNQQRVFF LFDHQMVLCK KDLIRRDILY YKGRIDMDKY EVVDIEDGRD DDFNVSMKNA FKLHNKETEE IHLFFAKKLE EKIRWLRAFR EERKMVQEDE KIGFEISENQ KRQAAMTVRK VPKQKGVNSA RSVPPSYPPP QDPLNHGQYL VPDSIAQSQV FEFTEPKRSQ SPFWQNFSRL TPFKK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1488 / 1488 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 496 / 496 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2023 / 2023 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 536 / 536 | |||||||||||||
| Last intron/exon boundary | 1841 | |||||||||||||
| Theoretical NMD boundary in CDS | 1255 | |||||||||||||
| Length of CDS | 1488 | |||||||||||||
| Coding sequence (CDS) position | 1390 | |||||||||||||
| cDNA position | 1925 | |||||||||||||
| gDNA position | 171149 | |||||||||||||
| Chromosomal position | 63638126 | |||||||||||||
| 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 | ChrX:63638126C>T (GRCh38) | |||||||||||||
| Gene symbol | ARHGEF9 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000635967.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1390G>A g.171149G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered gDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Original cDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered cDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Wildtype AA sequence | MANRELAFKA GDVIKVLDAS NKDWWWGQID DEEGWFPASF VRLWVNQEDE VEEGPSDVQN GHLDPNSDCL CLGRPLQNRD QMRANVINEI MSTERHYIKH LKDICEGYLK QCRKRRDMFS DEQLKVIFGN IEDIYRFQMG FVRDLEKQYN NDDPHLSEIG PCFLEHQDGF WIYSEYCNNH LDACMELSKL MKDSRYQHFF EACRLLQQMI DIAIDGFLLT PVQKICKYPL QLAELLKYTA QDHSDYRYVA AALAVMRNVT QQINERKRRL ENIDKIAQWQ ASVLDWEGED ILDRSSELIY TGEMAWIYQP YGRNQQRVFF LFDHQMVLCK KDLIRRDILY YKGRIDMDKY EVVDIEDGRD DDFNVSMKNA FKLHNKETEE IHLFFAKKLE EKIRWLRAFR EERKMVQEDE KIGFEISENQ KRQAAMTVRK VPKQKGVNSA RSVPPSYPPP QDPLNHGQYL VPDGIAQSQV FEFTEPKRSQ SPFWQNFSRL TPFKK* | |||||||||||||
| Mutated AA sequence | MANRELAFKA GDVIKVLDAS NKDWWWGQID DEEGWFPASF VRLWVNQEDE VEEGPSDVQN GHLDPNSDCL CLGRPLQNRD QMRANVINEI MSTERHYIKH LKDICEGYLK QCRKRRDMFS DEQLKVIFGN IEDIYRFQMG FVRDLEKQYN NDDPHLSEIG PCFLEHQDGF WIYSEYCNNH LDACMELSKL MKDSRYQHFF EACRLLQQMI DIAIDGFLLT PVQKICKYPL QLAELLKYTA QDHSDYRYVA AALAVMRNVT QQINERKRRL ENIDKIAQWQ ASVLDWEGED ILDRSSELIY TGEMAWIYQP YGRNQQRVFF LFDHQMVLCK KDLIRRDILY YKGRIDMDKY EVVDIEDGRD DDFNVSMKNA FKLHNKETEE IHLFFAKKLE EKIRWLRAFR EERKMVQEDE KIGFEISENQ KRQAAMTVRK VPKQKGVNSA RSVPPSYPPP QDPLNHGQYL VPDSIAQSQV FEFTEPKRSQ SPFWQNFSRL TPFKK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1488 / 1488 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 496 / 496 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2133 / 2133 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 646 / 646 | |||||||||||||
| Last intron/exon boundary | 1951 | |||||||||||||
| Theoretical NMD boundary in CDS | 1255 | |||||||||||||
| Length of CDS | 1488 | |||||||||||||
| Coding sequence (CDS) position | 1390 | |||||||||||||
| cDNA position | 2035 | |||||||||||||
| gDNA position | 171149 | |||||||||||||
| Chromosomal position | 63638126 | |||||||||||||
| Speed | 0.09 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | ChrX:63638126C>T (GRCh38) | |||||||||||||
| Gene symbol | ARHGEF9 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000374872.4 | |||||||||||||
| Genbank transcript ID | NM_001369037 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1390G>A g.171149G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered gDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Original cDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered cDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Wildtype AA sequence | MANRELAFKA GDVIKVLDAS NKDWWWGQID DEEGWFPASF VRLWVNQEDE VEEGPSDVQN GHLDPNSDCL CLGRPLQNRD QMRANVINEI MSTERHYIKH LKDICEGYLK QCRKRRDMFS DEQLKVIFGN IEDIYRFQMG FVRDLEKQYN NDDPHLSEIG PCFLEHQDGF WIYSEYCNNH LDACMELSKL MKDSRYQHFF EACRLLQQMI DIAIDGFLLT PVQKICKYPL QLAELLKYTA QDHSDYRYVA AALAVMRNVT QQINERKRRL ENIDKIAQWQ ASVLDWEGED ILDRSSELIY TGEMAWIYQP YGRNQQRVFF LFDHQMVLCK KDLIRRDILY YKGRIDMDKY EVVDIEDGRD DDFNVSMKNA FKLHNKETEE IHLFFAKKLE EKIRWLRAFR EERKMVQEDE KIGFEISENQ KRQAAMTVRK VPKQKGVNSA RSVPPSYPPP QDPLNHGQYL VPDGIAQSQV FEFTEPKRSQ SPFWQNFSRL TPFKK* | |||||||||||||
| Mutated AA sequence | MANRELAFKA GDVIKVLDAS NKDWWWGQID DEEGWFPASF VRLWVNQEDE VEEGPSDVQN GHLDPNSDCL CLGRPLQNRD QMRANVINEI MSTERHYIKH LKDICEGYLK QCRKRRDMFS DEQLKVIFGN IEDIYRFQMG FVRDLEKQYN NDDPHLSEIG PCFLEHQDGF WIYSEYCNNH LDACMELSKL MKDSRYQHFF EACRLLQQMI DIAIDGFLLT PVQKICKYPL QLAELLKYTA QDHSDYRYVA AALAVMRNVT QQINERKRRL ENIDKIAQWQ ASVLDWEGED ILDRSSELIY TGEMAWIYQP YGRNQQRVFF LFDHQMVLCK KDLIRRDILY YKGRIDMDKY EVVDIEDGRD DDFNVSMKNA FKLHNKETEE IHLFFAKKLE EKIRWLRAFR EERKMVQEDE KIGFEISENQ KRQAAMTVRK VPKQKGVNSA RSVPPSYPPP QDPLNHGQYL VPDSIAQSQV FEFTEPKRSQ SPFWQNFSRL TPFKK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1488 / 1488 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 496 / 496 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2318 / 2318 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 831 / 831 | |||||||||||||
| Last intron/exon boundary | 2136 | |||||||||||||
| Theoretical NMD boundary in CDS | 1255 | |||||||||||||
| Length of CDS | 1488 | |||||||||||||
| Coding sequence (CDS) position | 1390 | |||||||||||||
| cDNA position | 2220 | |||||||||||||
| gDNA position | 171149 | |||||||||||||
| Chromosomal position | 63638126 | |||||||||||||
| Speed | 0.08 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | ChrX:63638126C>T (GRCh38) | ||||||||||||||||
| Gene symbol | ARHGEF9 | ||||||||||||||||
| Gene constraints | no data | ||||||||||||||||
| Ensembl transcript ID | ENST00000624843.3 | ||||||||||||||||
| Genbank transcript ID | NM_001369040 (by similarity), NM_001173480 (by similarity), NM_001353926 (by similarity), NM_001369042 (by similarity) | ||||||||||||||||
| UniProt / AlphaMissense peptide | ARHG9_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.1147G>A g.171149G>A | ||||||||||||||||
| AA changes |
| ||||||||||||||||
| Frameshift | No | ||||||||||||||||
| Length of protein | Normal | ||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
| Variant DBs |
| ||||||||||||||||
| Protein conservation | |||||||||||||||||
| Protein features |
| ||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||
| Chromosome | 23 | ||||||||||||||||
| Strand | -1 | ||||||||||||||||
| Original gDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | ||||||||||||||||
| Altered gDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | ||||||||||||||||
| Original cDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | ||||||||||||||||
| Altered cDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | ||||||||||||||||
| Wildtype AA sequence | MRANVINEIM STERHYIKHL KDICEGYLKQ CRKRRDMFSD EQLKVIFGNI EDIYRFQMGF VRDLEKQYNN DDPHLSEIGP CFLEHQDGFW IYSEYCNNHL DACMELSKLM KDSRYQHFFE ACRLLQQMID IAIDGFLLTP VQKICKYPLQ LAELLKYTAQ DHSDYRYVAA ALAVMRNVTQ QINERKRRLE NIDKIAQWQA SVLDWEGEDI LDRSSELIYT GEMAWIYQPY GRNQQRVFFL FDHQMVLCKK DLIRRDILYY KGRIDMDKYE VVDIEDGRDD DFNVSMKNAF KLHNKETEEI HLFFAKKLEE KIRWLRAFRE ERKMVQEDEK IGFEISENQK RQAAMTVRKV PKQKGVNSAR SVPPSYPPPQ DPLNHGQYLV PDGIAQSQVF EFTEPKRSQS PFWQNFSRLT PFKK* | ||||||||||||||||
| Mutated AA sequence | MRANVINEIM STERHYIKHL KDICEGYLKQ CRKRRDMFSD EQLKVIFGNI EDIYRFQMGF VRDLEKQYNN DDPHLSEIGP CFLEHQDGFW IYSEYCNNHL DACMELSKLM KDSRYQHFFE ACRLLQQMID IAIDGFLLTP VQKICKYPLQ LAELLKYTAQ DHSDYRYVAA ALAVMRNVTQ QINERKRRLE NIDKIAQWQA SVLDWEGEDI LDRSSELIYT GEMAWIYQPY GRNQQRVFFL FDHQMVLCKK DLIRRDILYY KGRIDMDKYE VVDIEDGRDD DFNVSMKNAF KLHNKETEEI HLFFAKKLEE KIRWLRAFRE ERKMVQEDEK IGFEISENQK RQAAMTVRKV PKQKGVNSAR SVPPSYPPPQ DPLNHGQYLV PDSIAQSQVF EFTEPKRSQS PFWQNFSRLT PFKK* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 1245 / 1245 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 415 / 415 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 2111 / 2111 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 867 / 867 | ||||||||||||||||
| Last intron/exon boundary | 1929 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 1012 | ||||||||||||||||
| Length of CDS | 1245 | ||||||||||||||||
| Coding sequence (CDS) position | 1147 | ||||||||||||||||
| cDNA position | 2013 | ||||||||||||||||
| gDNA position | 171149 | ||||||||||||||||
| Chromosomal position | 63638126 | ||||||||||||||||
| 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 | ChrX:63638126C>T (GRCh38) | |||||||||||||
| Gene symbol | ARHGEF9 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000636392.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1390G>A g.171149G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered gDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Original cDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered cDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Wildtype AA sequence | MANRELAFKA GDVIKVLDAS NKDWWWGQID DEEGWFPASF VRLWVNQEDE VEEGPSDVQN GHLDPNSDCL CLGRPLQNRD QMRANVINEI MSTERHYIKH LKDICEGYLK QCRKRRDMFS DEQLKVIFGN IEDIYRFQMG FVRDLEKQYN NDDPHLSEIG PCFLEHQDGF WIYSEYCNNH LDACMELSKL MKDSRYQHFF EACRLLQQMI DIAIDGFLLT PVQKICKYPL QLAELLKYTA QDHSDYRYVA AALAVMRNVT QQINERKRRL ENIDKIAQWQ ASVLDWEGED ILDRSSELIY TGEMAWIYQP YGRNQQRVFF LFDHQMVLCK KDLIRRDILY YKGRIDMDKY EVVDIEDGRD DDFNVSMKNA FKLHNKETEE IHLFFAKKLE EKIRWLRAFR EERKMVQEDE KIGFEISENQ KRQAAMTVRK VPKQKGVNSA RSVPPSYPPP QDPLNHGQYL VPDGIAQSQV FEFTEPKRSQ SPFWQNFSRL TPFKK* | |||||||||||||
| Mutated AA sequence | MANRELAFKA GDVIKVLDAS NKDWWWGQID DEEGWFPASF VRLWVNQEDE VEEGPSDVQN GHLDPNSDCL CLGRPLQNRD QMRANVINEI MSTERHYIKH LKDICEGYLK QCRKRRDMFS DEQLKVIFGN IEDIYRFQMG FVRDLEKQYN NDDPHLSEIG PCFLEHQDGF WIYSEYCNNH LDACMELSKL MKDSRYQHFF EACRLLQQMI DIAIDGFLLT PVQKICKYPL QLAELLKYTA QDHSDYRYVA AALAVMRNVT QQINERKRRL ENIDKIAQWQ ASVLDWEGED ILDRSSELIY TGEMAWIYQP YGRNQQRVFF LFDHQMVLCK KDLIRRDILY YKGRIDMDKY EVVDIEDGRD DDFNVSMKNA FKLHNKETEE IHLFFAKKLE EKIRWLRAFR EERKMVQEDE KIGFEISENQ KRQAAMTVRK VPKQKGVNSA RSVPPSYPPP QDPLNHGQYL VPDSIAQSQV FEFTEPKRSQ SPFWQNFSRL TPFKK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1488 / 1488 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 496 / 496 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1919 / 1919 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 432 / 432 | |||||||||||||
| Last intron/exon boundary | 1737 | |||||||||||||
| Theoretical NMD boundary in CDS | 1255 | |||||||||||||
| Length of CDS | 1488 | |||||||||||||
| Coding sequence (CDS) position | 1390 | |||||||||||||
| cDNA position | 1821 | |||||||||||||
| gDNA position | 171149 | |||||||||||||
| Chromosomal position | 63638126 | |||||||||||||
| Speed | 0.08 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | ChrX:63638126C>T (GRCh38) | |||||||||||||
| Gene symbol | ARHGEF9 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000374878.5 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.1375-2718G>A g.171149G>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 | 23 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered gDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MQWIRGGSGM LITGDSIVSA EAVWDHVTMA NRELAFKAGD VIKVLDASNK DWWWGQIDDE EGWFPASFVR LWVNQEDEVE EGPSDVQNGH LDPNSDCLCL GRPLQNRDQM RANVINEIMS TERHYIKHLK DICEGYLKQC RKRRDMFSDE QLKVIFGNIE DIYRFQMGFV RDLEKQYNND DPHLSEIGPC FLEHQDGFWI YSEYCNNHLD ACMELSKLMK DSRYQHFFEA CRLLQQMIDI AIDGFLLTPV QKICKYPLQL AELLKYTAQD HSDYRYVAAA LAVMRNVTQQ INERKRRLEN IDKIAQWQAS VLDWEGEDIL DRSSELIYTG EMAWIYQPYG RNQQRVFFLF DHQMVLCKKD LIRRDILYYK GRIDMDKYEV VDIEDGRDDD FNVSMKNAFK LHNKETEEIH LFFAKKLEEK IRWLRAFREE RKMVQEDEKI GFEISENQKR QAAMTVRKLP FPQLSEARIC SPKGFASVFN GTCCGES* | |||||||||||||
| 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 | 402 / 402 | |||||||||||||
| Last intron/exon boundary | 1775 | |||||||||||||
| Theoretical NMD boundary in CDS | 1323 | |||||||||||||
| Length of CDS | 1464 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 171149 | |||||||||||||
| Chromosomal position | 63638126 | |||||||||||||
| 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
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | ChrX:63638126C>T (GRCh38) | |||||||||||||
| Gene symbol | ARHGEF9 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000437457.6 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | 3'UTR | |||||||||||||
| DNA changes | cDNA.1963G>A g.171149G>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 | polyA signal ok | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered gDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Original cDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered cDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Wildtype AA sequence | MQWIRGGSGM LITGDSIVSA EAVWDHVTMA NRELAFKAGD VIKVLDASNK DWWWGQIDDE EGWFPASFVR LWVNQEDEVE EGPSDVQNGH LDPNSDCLCL GRPLQNRDQM RANVINEIMS TERHYIKHLK DICEGYLKQC RKRRDMFSDE QLKVIFGNIE DIYRFQMGFV RDLEKQYNND DPHLSEIGPC FLEHQDGFWI YSEYCNNHLD ACMELSKLMK DSRYQHFFEA CRLLQQMIDI AIDGFLLTPV QKICKYPLQL AELLKYTAQD HSDYRYVAAA LAVMRNVTQQ INERKRRLEN IDKIAQWQAS VLDWEGEDIL DRSSELIYTG EMAWIYQPYG RNQQRVFFLF DHQMVLCKKD LIRRDILYYK GRIDMDKYEV VDIEDGRDDD FNVSMKNAFK LHNKETEEIH LFFAKKLEEK IRWLRAFREE RKMVQEDEKI GFEISENQKR QAAMTVRKVP KQKGGTGEGE IEFVGFFAGP TPA* | |||||||||||||
| 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 | 380 / 380 | |||||||||||||
| Last intron/exon boundary | 1879 | |||||||||||||
| Theoretical NMD boundary in CDS | 1449 | |||||||||||||
| Length of CDS | 1452 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | 1963 | |||||||||||||
| gDNA position | 171149 | |||||||||||||
| Chromosomal position | 63638126 | |||||||||||||
| 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 | ChrX:63638126C>T (GRCh38) | |||||||||||||
| Gene symbol | ARHGEF9 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000671741.2 | |||||||||||||
| Genbank transcript ID | NM_001353921 (exact from MANE), NM_001353922 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1474G>A g.171149G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered gDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Original cDNA sequence snippet | GCCAGTACCTGGTCCCCGACGGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Altered cDNA sequence snippet | GCCAGTACCTGGTCCCCGACAGCATCGCTCAGTCGCAGGTC | |||||||||||||
| Wildtype AA sequence | MQWIRGGSGM LITGDSIVSA EAVWDHVTMA NRELAFKAGD VIKVLDASNK DWWWGQIDDE EGWFPASFVR LWVNQEDEVE EGPSDVQNGH LDPNSDCLCL GRPLQNRDQM RANVINEIMS TERHYIKHLK DICEGYLKQC RKRRDMFSDE QLKVIFGNIE DIYRFQMGFV RDLEKQYNND DPHLSEIGPC FLEHQDGFWI YSEYCNNHLD ACMELSKLMK DSRYQHFFEA CRLLQQMIDI AIDGFLLTPV QKICKYPLQL AELLKYTAQD HSDYRYVAAA LAVMRNVTQQ INERKRRLEN IDKIAQWQAS VLDWEGEDIL DRSSELIYTG EMAWIYQPYG RNQQRVFFLF DHQMVLCKKD LIRRDILYYK GRIDMDKYEV VDIEDGRDDD FNVSMKNAFK LHNKETEEIH LFFAKKLEEK IRWLRAFREE RKMVQEDEKI GFEISENQKR QAAMTVRKVP KQKGVNSARS VPPSYPPPQD PLNHGQYLVP DGIAQSQVFE FTEPKRSQSP FWQNFSRLTP FKK* | |||||||||||||
| Mutated AA sequence | MQWIRGGSGM LITGDSIVSA EAVWDHVTMA NRELAFKAGD VIKVLDASNK DWWWGQIDDE EGWFPASFVR LWVNQEDEVE EGPSDVQNGH LDPNSDCLCL GRPLQNRDQM RANVINEIMS TERHYIKHLK DICEGYLKQC RKRRDMFSDE QLKVIFGNIE DIYRFQMGFV RDLEKQYNND DPHLSEIGPC FLEHQDGFWI YSEYCNNHLD ACMELSKLMK DSRYQHFFEA CRLLQQMIDI AIDGFLLTPV QKICKYPLQL AELLKYTAQD HSDYRYVAAA LAVMRNVTQQ INERKRRLEN IDKIAQWQAS VLDWEGEDIL DRSSELIYTG EMAWIYQPYG RNQQRVFFLF DHQMVLCKKD LIRRDILYYK GRIDMDKYEV VDIEDGRDDD FNVSMKNAFK LHNKETEEIH LFFAKKLEEK IRWLRAFREE RKMVQEDEKI GFEISENQKR QAAMTVRKVP KQKGVNSARS VPPSYPPPQD PLNHGQYLVP DSIAQSQVFE FTEPKRSQSP FWQNFSRLTP FKK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1572 / 1572 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 524 / 524 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1641 / 1641 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 70 / 70 | |||||||||||||
| Last intron/exon boundary | 1459 | |||||||||||||
| Theoretical NMD boundary in CDS | 1339 | |||||||||||||
| Length of CDS | 1572 | |||||||||||||
| Coding sequence (CDS) position | 1474 | |||||||||||||
| cDNA position | 1543 | |||||||||||||
| gDNA position | 171149 | |||||||||||||
| Chromosomal position | 63638126 | |||||||||||||
| 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