| Variant ID | 1021 |
|---|---|
| Entrez Gene ID | 5858 |
| Gene | PZP (GeneCards) |
| Location | hg19 12:9355195-9355195
hg38 12:9202599-9202599 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000012.11:g.9355195 G>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 118 |
| Amino acid changes in protein | T > K |
| 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 | -0.9874 |
| CADD Raw score (version 1.3) | 0.21615 (Deleterious) |
| FATHMM raw prediction score | 0.02729 (Tolerated) |
| SIFT score | 0.156 (Tolerated) |
| LRT score | 0.83 |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.7 (Tolerated) |
| PROVEAN score | -2.44 (Tolerated) |
| MetaSVM score | -1.012 (Tolerated) |
| MetaLR score | 0.081 (Tolerated) |
| MCAP score | 0.005 (Tolerated) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.36 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.211 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 6.788 |
| Deleterious probability by iFish2 | 0.1591 (Neutral) |
| Deleterious probability by DeFine | 0.4729 (Neutral) |
| 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 | 27788131.02 (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; |