| Variant ID | 29208 |
|---|---|
| Entrez Gene ID | 22983 |
| Gene | MAST1 (GeneCards) |
| Location | hg19 19:12977649-12977649
hg38 19:12866835-12866835 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000019.9:g.12977649 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | Intron |
|---|---|
| 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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.6158 |
| CADD Raw score (version 1.3) | 0.066232 (Deleterious) |
| FATHMM raw prediction score | 0.17735 (Tolerated) |
| Deleterious probability by DeFine | 0.9266 (Deleterious) |
| Entrez Gene ID | 22983 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MAST1 (GeneCards) |
| Number of variants in MAST1 in this database | 1 (view all the variants) |
| Full name | microtubule associated serine/threonine kinase 1 |
| Band | 19p13.13 |
| Other IDs | Vega: OTTHUMG00000180514 OMIM: 612256 HGNC: HGNC:19034 Ensembl: ENSG00000105613 |
| Other names | SAST |
| Summary | This gene is a member of the microtubule-associated serine/threonine kinase (MAST) family. The protein encoded by this gene has an N-terminal serine/threonine kinase domain followed by a postsynaptic density protein-95/discs large/zona occludens-1 (PDZ) domain. In mouse and rat, the orthologous protein associates with the cytoskeleton and can bind both beta-2-syntrophin and neuronal nitric oxide synthase (nNOS) through its PDZ domain. In mouse and rat, this protein also co-localizes with dystrophin- and utrophin-associated protein complexes (DAPC/UAPC) in the vascular endothelium of the central nervous system. [provided by RefSeq, May 2017] |
| Individual ID | 28503910.85 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |