| Variant ID | 3533 |
|---|---|
| Entrez Gene ID | 140469 |
| Gene | MYO3B (GeneCards) |
| Location | hg19 2:171072782-171072782
hg38 2:170216272-170216272 |
| Disease | |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.171072782 C>G (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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0205 |
| CADD Raw score (version 1.3) | -0.098542 (Deleterious) |
| FATHMM raw prediction score | 0.15477 (Tolerated) |
| Deleterious probability by DeFine | 0.2783 (Neutral) |
| Entrez Gene ID | 140469 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MYO3B (GeneCards) |
| Number of variants in MYO3B in this database | 6 (view all the variants) |
| Full name | myosin IIIB |
| Band | 2q31.1 |
| Other IDs | Vega: OTTHUMG00000154002 OMIM: 610040 HGNC: HGNC:15576 Ensembl: ENSG00000071909 |
| Other names | None |
| Summary | This gene encodes one of the class III myosins. Myosins are ATPases, activated by actin, that move along actin filaments in the cell. This class of myosins are characterized by an amino-terminal kinase domain and shown to be present in photoreceptors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014] |
| 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; |