| Variant ID | 1518 |
|---|---|
| Entrez Gene ID | 4660 |
| Gene | PPP1R12B (GeneCards) |
| Location | hg19 1:202531930-202531930
hg38 1:202562802-202562802 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000001.10:g.202531930_202531930 del (Genome Assembly: hg19) |
| 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_001331029.1 |
| mRNA length | 11291 |
| Reference length | 249250621 |
| Deleterious probability by DeFine | 0.8526 (Deleterious) |
|---|
| Entrez Gene ID | 4660 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PPP1R12B (GeneCards) |
| Number of variants in PPP1R12B in this database | 2 (view all the variants) |
| Full name | protein phosphatase 1 regulatory subunit 12B |
| Band | 1q32.1 |
| Other IDs | Vega: OTTHUMG00000041393 OMIM: 603768 HGNC: HGNC:7619 Ensembl: ENSG00000077157 |
| Other names | MYPT2, PP1bp55 |
| Summary | Myosin phosphatase is a protein complex comprised of three subunits: a catalytic subunit (PP1c-delta, protein phosphatase 1, catalytic subunit delta), a large regulatory subunit (MYPT, myosin phosphatase target) and small regulatory subunit (sm-M20). Two isoforms of MYPT have been isolated--MYPT1 and MYPT2, the first of which is widely expressed, and the second of which may be specific to heart, skeletal muscle, and brain. Each of the MYPT isoforms functions to bind PP1c-delta and increase phosphatase activity. This locus encodes both MYTP2 and M20. Alternatively spliced transcript variants encoding different isoforms have been identified. Related pseudogenes have been defined on the Y chromosome. [provided by RefSeq, Oct 2011] |
| Individual ID | 28867142.95 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |