| Variant ID | 16722 |
|---|---|
| Entrez Gene ID | 8499 |
| Gene | PPFIA2 (GeneCards) |
| Location | hg19 12:82286780-82286780
hg38 12:81893001-81893001 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.82286780 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 | -0.3746 |
| CADD Raw score (version 1.3) | 0.039722 (Deleterious) |
| FATHMM raw prediction score | 0.05792 (Tolerated) |
| Deleterious probability by DeFine | 0.1172 (Neutral) |
| Entrez Gene ID | 8499 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PPFIA2 (GeneCards) |
| Number of variants in PPFIA2 in this database | 6 (view all the variants) |
| Full name | PTPRF interacting protein alpha 2 |
| Band | 12q21.31 |
| Other IDs | Vega: OTTHUMG00000170181 OMIM: 603143 HGNC: HGNC:9246 Ensembl: ENSG00000139220 |
| Other names | None |
| Summary | The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein has been shown to bind the calcium/calmodulin-dependent serine protein kinase (MAGUK family) protein (also known as CASK) and proposed to regulate higher-order brain functions in mammals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] |
| Individual ID | 29217584.13 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |