| Variant ID | 847 |
|---|---|
| Entrez Gene ID | 8751 |
| Gene | ADAM15 (GeneCards) |
| Location | hg19 1:155034747-155034747
hg38 1:155062271-155062271 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000001.10:g.155034747 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 769 |
| Amino acid changes in protein | P > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003247 |
|---|---|
| EIGEN score | -0.3032 |
| CADD Raw score (version 1.3) | 1.789556 (Deleterious) |
| FATHMM raw prediction score | 0.17206 (Tolerated) |
| SIFT score | 0.005 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| PROVEAN score | -2.14 (Tolerated) |
| MetaSVM score | -0.87 (Tolerated) |
| MetaLR score | 0.001 (Tolerated) |
| MCAP score | 0.023 (Tolerated) |
| FitCons score | 0.789 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.25 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.405 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.999 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 3.817 |
| Deleterious probability by iFish2 | 0.0609 (Neutral) |
| Deleterious probability by DeFine | 0.8929 (Deleterious) |
| Entrez Gene ID | 8751 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ADAM15 (GeneCards) |
| Number of variants in ADAM15 in this database | 1 (view all the variants) |
| Full name | ADAM metallopeptidase domain 15 |
| Band | 1q21.3 |
| Other IDs | Vega: OTTHUMG00000013898 OMIM: 605548 HGNC: HGNC:193 Ensembl: ENSG00000143537 |
| Other names | MDC15 |
| Summary | The protein encoded by this gene is a member of the ADAM (a disintegrin and metalloproteinase) protein family. ADAM family members are type I transmembrane glycoproteins known to be involved in cell adhesion and proteolytic ectodomain processing of cytokines and adhesion molecules. This protein contains multiple functional domains including a zinc-binding metalloprotease domain, a disintegrin-like domain, as well as a EGF-like domain. Through its disintegrin-like domain, this protein specifically interacts with the integrin beta chain, beta 3. It also interacts with Src family protein-tyrosine kinases in a phosphorylation-dependent manner, suggesting that this protein may function in cell-cell adhesion as well as in cellular signaling. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] |
| 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; |