| Variant ID | 798 |
|---|---|
| Entrez Gene ID | 140469 |
| Gene | MYO3B (GeneCards) |
| Location | hg19 2:171240283-171240283
hg38 2:170383773-170383773 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000002.11:g.171240283 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 417 |
| Amino acid changes in protein | D > N |
| 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 | 0.9357 |
| CADD Raw score (version 1.3) | 7.340242 (Deleterious) |
| FATHMM raw prediction score | 0.99177 (Tolerated) |
| SIFT score | 0.023 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.18 (Deleterious) |
| PROVEAN score | -4.52 (Deleterious) |
| MetaSVM score | 0.776 (Deleterious) |
| MetaLR score | 0.833 (Deleterious) |
| MCAP score | 0.153 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.9 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.964 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.263 |
| Deleterious probability by iFish2 | 0.8458 (Deleterious) |
| Deleterious probability by DeFine | 0.9545 (Deleterious) |
| 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] |
| Individual ID | 27788131.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |