| Variant ID | 1491 |
|---|---|
| Entrez Gene ID | 5125 |
| Gene | PCSK5 (GeneCards) |
| Location | hg19 9:78973603-78973603
hg38 9:76358687-76358687 |
| Disease | Arteriovenous Malformations of the Brain (view all the variants in this disease) |
| Method | NA |
| Mutation(HGVS format) | NC_000009.11:g.78973603 C>T (Genome Assembly: hg19) |
| Exon or Intron | NA |
|---|---|
| Position in protein | 1783 |
| Amino acid changes in protein | A > V |
| Position in cDNA | 5348 |
| Changes in cDNA | C > T |
| mRNA accession | NM_001190482.1 |
| mRNA length | 9538 |
| Reference length | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1518 |
| CADD Raw score (version 1.3) | 2.563462 (Deleterious) |
| FATHMM raw prediction score | 0.77482 (Tolerated) |
| SIFT score | 0.035 (Deleterious) |
| LRT score | 0.512 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 2.4 (Deleterious) |
| PROVEAN score | -1.47 (Tolerated) |
| MetaSVM score | -0.848 (Tolerated) |
| MetaLR score | 0.214 (Tolerated) |
| MCAP score | 0.04 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.88 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.298 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.061 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.816 |
| Deleterious probability by iFish2 | 0.327 (Neutral) |
| Deleterious probability by DeFine | 0.8957 (Deleterious) |
| Entrez Gene ID | 5125 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PCSK5 (GeneCards) |
| Number of variants in PCSK5 in this database | 6 (view all the variants) |
| Full name | proprotein convertase subtilisin/kexin type 5 |
| Band | 9q21.13 |
| Other IDs | Vega: OTTHUMG00000020039 OMIM: 600488 HGNC: HGNC:8747 Ensembl: ENSG00000099139 |
| Other names | PC5, PC6, PC6A, SPC6 |
| Summary | This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER. It then sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. This encoded protein is widely expressed and one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It mediates posttranslational endoproteolytic processing for several integrin alpha subunits and is thought to process prorenin, pro-membrane type-1 matrix metalloproteinase and HIV-1 glycoprotein gp160. Alternative splicing results in multiple transcript variants, some of which encode distinct isoforms, including a protease packaged into dense core granules (PC5A) and a type 1 membrane bound protease (PC5B). [provided by RefSeq, May 2014] |
| Individual ID | 29298116.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29298116 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Arteriovenous Malformations of the Brain (view all the variants in this disease) |
| OMIM ID | 108010 |
| Pubmed ID | 29298116 |
|---|---|
| Title | Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain. |
| Journal | New England Journal of Medicine |
| Publication date | 2018.01 |
| Disease | Arteriovenous Malformations of the Brain |
| Population | Canada |
| Number of cases | cases of unknown sex: 26; |