| Variant ID | 12724 |
|---|---|
| Entrez Gene ID | 169044 |
| Gene | COL22A1 (GeneCards) |
| Location | hg19 8:140282275-140282275
hg38 8:139270032-139270032 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.140282275 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 |
|---|---|
| EIGEN score | -0.316 |
| CADD Raw score (version 1.3) | -0.077417 (Deleterious) |
| FATHMM raw prediction score | 0.08466 (Tolerated) |
| Deleterious probability by DeFine | 0.066 (Neutral) |
| Entrez Gene ID | 169044 (NCBI Gene) |
|---|---|
| Official Gene Symbol | COL22A1 (GeneCards) |
| Number of variants in COL22A1 in this database | 22 (view all the variants) |
| Full name | collagen type XXII alpha 1 chain |
| Band | 8q24.23-q24.3 |
| Other IDs | Vega: OTTHUMG00000150035 OMIM: 610026 HGNC: HGNC:22989 Ensembl: ENSG00000169436 |
| Other names | None |
| Summary | This gene encodes member of the collagen family which is thought to contribute to the stabilization of myotendinous junctions and strengthen skeletal muscle attachments during contractile activity. It belongs to the fibril-associated collagens with interrupted triple helix (FACIT) subset of the collagen superfamily, which associate with collagen fibers through their C-terminal collagenous domains and mediate protein-protein interactions through their N-terminal noncollagenous domains. The encoded protein is deposited in the basement membrane zone of the myotendinous junction which is present only at the tissue junctions of muscles, tendons, the heart, articular cartilage, and skin. A knockdown of the orthologous zebrafish gene induces a muscular dystrophy by disruption of the myotendinous junction. [provided by RefSeq, May 2017] |
| Individual ID | 29217584.20 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Male Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |