| Variant ID | 29532 |
|---|---|
| Entrez Gene ID | 84441 |
| Gene | MAML2 (GeneCards) |
| Location | hg19 11:95825242-95825242
hg38 11:96092078-96092078 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000011.9:g.95825242 C>T (Genome Assembly: hg19) |
| 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) | 0.00003237 |
|---|---|
| EIGEN score | 0.313 |
| CADD Raw score (version 1.3) | 0.719708 (Deleterious) |
| FATHMM raw prediction score | 0.84994 (Tolerated) |
| Deleterious probability by DeFine | 0.7162 (Deleterious) |
| Entrez Gene ID | 84441 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MAML2 (GeneCards) |
| Number of variants in MAML2 in this database | 7 (view all the variants) |
| Full name | mastermind like transcriptional coactivator 2 |
| Band | 11q21 |
| Other IDs | Vega: OTTHUMG00000167677 OMIM: 607537 HGNC: HGNC:16259 Ensembl: ENSG00000184384 |
| Other names | MAM2, MAM3, MAM-3, MLL-MAML2 |
| Summary | The protein encoded by this gene is a member of the Mastermind-like family of proteins. All family members are proline and glutamine-rich, and contain a conserved basic domain that binds the ankyrin repeat domain of the intracellular domain of the Notch receptors (ICN1-4) in their N-terminus, and a transcriptional activation domain in their C-terminus. This protein binds to an extended groove that is formed by the interaction of CBF1, Suppressor of Hairless, LAG-1 (CSL) with ICN, and positively regulates Notch signaling. High levels of expression of this gene have been observed in several B cell-derived lymphomas. Translocations resulting in fusion proteins with both CRTC1 and CRTC3 have been implicated in the development of mucoepidermoid carcinomas, while a translocation event with CXCR4 has been linked with chronic lymphocytic leukemia (CLL). Copy number variation in the polyglutamine tract has been observed. [provided by RefSeq, Jan 2015] |
| Individual ID | 28714951.208 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |