| Variant ID | 12554 |
|---|---|
| Entrez Gene ID | 9172 |
| Gene | MYOM2 (GeneCards) |
| Location | hg19 8:2384315-2384315
hg38 8:2527189-2527189 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.2384315 C>T (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 |
|---|---|
| EIGEN score | 0.0811 |
| CADD Raw score (version 1.3) | 0.135932 (Deleterious) |
| FATHMM raw prediction score | 0.16535 (Tolerated) |
| Deleterious probability by DeFine | 0.5836 (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 | 29217584.15 (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; |