| Variant ID | 27567 |
|---|---|
| Entrez Gene ID | 5858 |
| Gene | PZP (GeneCards) |
| Location | hg19 12:9354985-9354985
hg38 12:9202389-9202389 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000012.11:g.9354985 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -1.2179 |
| CADD Raw score (version 1.3) | -0.355248 (Deleterious) |
| FATHMM raw prediction score | 0.05629 (Tolerated) |
| Deleterious probability by DeFine | 0.7219 (Deleterious) |
| Entrez Gene ID | 5858 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PZP (GeneCards) |
| Number of variants in PZP in this database | 3 (view all the variants) |
| Full name | PZP, alpha-2-macroglobulin like |
| Band | 12p13.31 |
| Other IDs | Vega: OTTHUMG00000154915 OMIM: 176420 HGNC: HGNC:9750 Ensembl: ENSG00000126838 |
| Other names | CPAMD6 |
| Summary | The protein encoded by this gene is highly expressed in late-pregnancy serum and is similar in structure to alpha-2-macroglobulin. The encoded protein, which acts as a homotetramer, inhibits the activity of all four classes of proteinases. This protein contains cleavage sites for several proteinases. Upon binding of a proteinase, the conformation of this protein changes to trap the proteinase, limiting its activity. This protein appears to be elevated in the sera of presymptomatic Alzheimer's disease patients. [provided by RefSeq, Dec 2016] |
| Individual ID | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |