| Variant ID | 21809 |
|---|---|
| Entrez Gene ID | 11096 |
| Gene | ADAMTS5 (GeneCards) |
| Location | hg19 21:28626514-28626514
hg38 21:27254195-27254195 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000021.8:g.28626514 T>C (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 | 48129895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3752 |
| CADD Raw score (version 1.3) | -0.207593 (Deleterious) |
| FATHMM raw prediction score | 0.05475 (Tolerated) |
| Deleterious probability by DeFine | 0.3057 (Neutral) |
| Entrez Gene ID | 11096 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ADAMTS5 (GeneCards) |
| Number of variants in ADAMTS5 in this database | 11 (view all the variants) |
| Full name | ADAM metallopeptidase with thrombospondin type 1 motif 5 |
| Band | 21q21.3 |
| Other IDs | Vega: OTTHUMG00000078686 OMIM: 605007 HGNC: HGNC:221 Ensembl: ENSG00000154736 |
| Other names | ADMP-2, ADAM-TS5, ADAMTS-5, ADAMTS11, ADAM-TS5, ADAMTS-11, ADAM-TS11 |
| Summary | This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs and functions as an aggrecanase that cleaves aggrecan, a major proteoglycan of cartilage, and may mediate cartilage destruction in osteoarthritis. [provided by RefSeq, Feb 2016] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |