| Variant ID | 1520 |
|---|---|
| Entrez Gene ID | 55291 |
| Gene | PPP6R3 (GeneCards) |
| Location | hg19 11:68305223-68305223
hg38 11:68537755-68537755 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | Hiseq |
| Mutation(HGVS format) | NC_000011.9:g.68305223_68305223 del (Genome Assembly: GRCh37) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NM_001352351.1 |
| mRNA length | 4822 |
| Reference length | 135006516 |
| Deleterious probability by DeFine | 0.9407 (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 | 28235832.04 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28235832 |
| Whose mosaic mutation | Male Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28235832 |
|---|---|
| Title | One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin. |
| Journal | Genome Research |
| Publication date | 2017.04 |
| Disease | Autism Spectrum Disorders |
| Number of cases | Male cases: 3; cases of unknown sex: 1; |