| Variant ID | 14176 |
|---|---|
| Entrez Gene ID | 53904 |
| Gene | MYO3A (GeneCards) |
| Location | hg19 10:26362273-26362273
hg38 10:26073344-26073344 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.26362273 G>A (Genome Assembly: GRCh37) |
| 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3807 |
| CADD Raw score (version 1.3) | -0.082916 (Deleterious) |
| FATHMM raw prediction score | 0.05413 (Tolerated) |
| Deleterious probability by DeFine | 0.0779 (Neutral) |
| Entrez Gene ID | 53904 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MYO3A (GeneCards) |
| Number of variants in MYO3A in this database | 5 (view all the variants) |
| Full name | myosin IIIA |
| Band | 10p12.1 |
| Other IDs | Vega: OTTHUMG00000017837 OMIM: 606808 HGNC: HGNC:7601 Ensembl: ENSG00000095777 |
| Other names | DFNB30 |
| Summary | The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.09 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |