| Variant ID | 29894 |
|---|---|
| Entrez Gene ID | 4629 |
| Gene | MYH11 (GeneCards) |
| Location | hg19 16:15835377-15835377
hg38 16:15741520-15741520 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000016.9:g.15835377 C>T (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 | NA |
| mRNA length | NA |
| Reference length | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0.0003 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs138977949 |
| EIGEN score | 1.2406 |
| CADD Raw score (version 1.3) | 1.222299 (Deleterious) |
| FATHMM raw prediction score | 0.98564 (Tolerated) |
| Deleterious probability by DeFine | 0.9266 (Deleterious) |
| Entrez Gene ID | 4629 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MYH11 (GeneCards) |
| Number of variants in MYH11 in this database | 1 (view all the variants) |
| Full name | myosin heavy chain 11 |
| Band | 16p13.11 |
| Other IDs | Vega: OTTHUMG00000129935 OMIM: 160745 HGNC: HGNC:7569 Ensembl: ENSG00000133392 |
| Other names | AAT4, FAA4, SMHC, SMMHC |
| Summary | The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. The gene encoding a human ortholog of rat NUDE1 is transcribed from the reverse strand of this gene, and its 3' end overlaps with that of the latter. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.19 (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; |