| Variant ID | 16020 |
|---|---|
| Entrez Gene ID | 55291 |
| Gene | PPP6R3 (GeneCards) |
| Location | hg19 11:68302773-68302773
hg38 11:68535305-68535305 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.68302773 C>G (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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0327 |
| CADD Raw score (version 1.3) | -0.071397 (Deleterious) |
| FATHMM raw prediction score | 0.14135 (Tolerated) |
| Deleterious probability by DeFine | 0.528 (Deleterious) |
| Entrez Gene ID | 55291 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PPP6R3 (GeneCards) |
| Number of variants in PPP6R3 in this database | 7 (view all the variants) |
| Full name | protein phosphatase 6 regulatory subunit 3 |
| Band | 11q13.2 |
| Other IDs | Vega: OTTHUMG00000167596 OMIM: 610879 HGNC: HGNC:1173 Ensembl: ENSG00000110075 |
| Other names | SAPL, PP6R3, SAPLa, SAPS3, SAP190, C11orf23 |
| Summary | Protein phosphatase regulatory subunits, such as SAPS3, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS3 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010] |
| Individual ID | 29217584.24 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |