| Variant ID | 29831 |
|---|---|
| Entrez Gene ID | 53904 |
| Gene | MYO3A (GeneCards) |
| Location | hg19 10:26455055-26455055
hg38 10:26166126-26166126 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000010.10:g.26455055 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 5779127 |
| Variant occurences in COSMIC | 1(breast) |
| EIGEN score | 0.1196 |
| CADD Raw score (version 1.3) | 2.687729 (Deleterious) |
| FATHMM raw prediction score | 0.97962 (Tolerated) |
| SIFT score | 0.995 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 0.015 (Tolerated) |
| PROVEAN score | -1.22 (Tolerated) |
| MetaSVM score | -0.828 (Tolerated) |
| MetaLR score | 0.22 (Tolerated) |
| MCAP score | 0.046 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 6.07 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.661 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.644 |
| Deleterious probability by iFish2 | 0.4409 (Neutral) |
| Deleterious probability by DeFine | 0.9543 (Deleterious) |
| 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 | 28867142.92 (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; |