| Variant ID | 801 |
|---|---|
| Entrez Gene ID | 9172 |
| Gene | MYOM2 (GeneCards) |
| Location | hg19 8:2037867-2037867
hg38 8:2090044-2090044 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000008.10:g.2037867 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 561 |
| Amino acid changes in protein | A > T |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 1455989 |
| Variant occurences in COSMIC | 1(large_intestine) |
| EIGEN score | -0.4497 |
| CADD Raw score (version 1.3) | 2.54383 (Deleterious) |
| FATHMM raw prediction score | 0.72029 (Tolerated) |
| SIFT score | 1 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.996 (Deleterious) |
| MutatioinAssessor score | -1.11 (Tolerated) |
| PROVEAN score | 1.58 (Tolerated) |
| MetaSVM score | -1.022 (Tolerated) |
| MetaLR score | 0.051 (Tolerated) |
| MCAP score | 0.012 (Tolerated) |
| FitCons score | 0.5 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.79 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.414 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.722 |
| Deleterious probability by iFish2 | 0.9122 (Deleterious) |
| Deleterious probability by DeFine | 0.9632 (Deleterious) |
| Entrez Gene ID | 9172 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MYOM2 (GeneCards) |
| Number of variants in MYOM2 in this database | 12 (view all the variants) |
| Full name | myomesin 2 |
| Band | 8p23.3 |
| Other IDs | Vega: OTTHUMG00000129175 OMIM: 603509 HGNC: HGNC:7614 Ensembl: ENSG00000036448 |
| Other names | TTNAP |
| Summary | The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD and 165 kD. The predicted MYOM2 protein contains 1,465 amino acids. Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 repeat domains with strong homology to either fibronectin type III or immunoglobulin C2 domains. Protein sequence comparisons suggested that the MYOM2 protein and bovine M protein are identical. [provided by RefSeq, Jul 2008] |
| 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; |