| Variant ID | 834 |
|---|---|
| Entrez Gene ID | 4604 |
| Gene | MYBPC1 (GeneCards) |
| Location | hg19 12:102040625-102040625
hg38 12:101646847-101646847 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000012.11:g.102040625 A>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 350 |
| Amino acid changes in protein | T > T |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.2776 |
| CADD Raw score (version 1.3) | 1.550134 (Deleterious) |
| FATHMM raw prediction score | 0.97346 (Tolerated) |
| Deleterious probability by DeFine | 0.8111 (Deleterious) |
| Entrez Gene ID | 4604 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MYBPC1 (GeneCards) |
| Number of variants in MYBPC1 in this database | 2 (view all the variants) |
| Full name | myosin binding protein C, slow type |
| Band | 12q23.2 |
| Other IDs | Vega: OTTHUMG00000170274 OMIM: 160794 HGNC: HGNC:7549 Ensembl: ENSG00000196091 |
| Other names | LCCS4, MYBPCC, MYBPCS |
| Summary | This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] |
| 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; |