| Variant ID | 836 |
|---|---|
| Entrez Gene ID | 1361 |
| Gene | CPB2 (GeneCards) |
| Location | hg19 13:46679073-46679073
hg38 13:46104938-46104938 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000013.10:g.46679073 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 24 |
| Amino acid changes in protein | Q > Q |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.1452 |
| CADD Raw score (version 1.3) | 0.690213 (Deleterious) |
| FATHMM raw prediction score | 0.90858 (Tolerated) |
| Deleterious probability by DeFine | 0.8579 (Deleterious) |
| Entrez Gene ID | 1361 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CPB2 (GeneCards) |
| Number of variants in CPB2 in this database | 1 (view all the variants) |
| Full name | carboxypeptidase B2 |
| Band | 13q14.13 |
| Other IDs | Vega: OTTHUMG00000016867 OMIM: 603101 HGNC: HGNC:2300 Ensembl: ENSG00000080618 |
| Other names | CPU, PCPB, TAFI |
| Summary | Carboxypeptidases are enzymes that hydrolyze C-terminal peptide bonds. The carboxypeptidase family includes metallo-, serine, and cysteine carboxypeptidases. According to their substrate specificity, these enzymes are referred to as carboxypeptidase A (cleaving aliphatic residues) or carboxypeptidase B (cleaving basic amino residues). The protein encoded by this gene is activated by trypsin and acts on carboxypeptidase B substrates. After thrombin activation, the mature protein downregulates fibrinolysis. Polymorphisms have been described for this gene and its promoter region. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] |
| Individual ID | 27788131.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |