| Variant ID | 12374 |
|---|---|
| Entrez Gene ID | 9172 |
| Gene | MYOM2 (GeneCards) |
| Location | hg19 8:2037900-2037900
hg38 8:2090077-2090077 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.2037900 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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 6720977 |
| Variant occurences in COSMIC | 1(large_intestine) |
| EIGEN score | 0.5841 |
| CADD Raw score (version 1.3) | 3.924781 (Deleterious) |
| FATHMM raw prediction score | 0.7855 (Tolerated) |
| SIFT score | 0.061 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.981 (Deleterious) |
| MutatioinAssessor score | 3.36 (Deleterious) |
| PROVEAN score | -0.69 (Tolerated) |
| MetaSVM score | -0.07 (Tolerated) |
| MetaLR score | 0.465 (Tolerated) |
| MCAP score | 0.046 (Deleterious) |
| FitCons score | 0.5 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.74 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.148 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.919 |
| Deleterious probability by iFish2 | 0.9433 (Deleterious) |
| Deleterious probability by DeFine | 0.9327 (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 | 29217584.13 (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; |