| Variant ID | 31929 |
|---|---|
| Entrez Gene ID | 170692 |
| Gene | ADAMTS18 (GeneCards) |
| Location | hg19 16:77375666-77375666
hg38 16:77341769-77341769 |
| Disease | Asymptomatic |
| Method | NGS gene panel |
| Mutation(HGVS format) | NC_000016.9:g.77375666 C>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 549 |
| Amino acid changes in protein | V > L |
| Position in cDNA | 1645 |
| Changes in cDNA | G > T |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3812 |
| CADD Raw score (version 1.3) | 1.848966 (Deleterious) |
| FATHMM raw prediction score | 0.71473 (Tolerated) |
| SIFT score | 0.641 (Tolerated) |
| LRT score | 0.033 (Tolerated) |
| MutationTaster score | 0.906 (Deleterious) |
| MutatioinAssessor score | 1.945 (Deleterious) |
| PROVEAN score | -1.12 (Tolerated) |
| MetaSVM score | -0.984 (Tolerated) |
| MetaLR score | 0.012 (Tolerated) |
| MCAP score | 0.007 (Tolerated) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.12 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.604 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.803 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 8.238 |
| Deleterious probability by iFish2 | 0.1689 (Neutral) |
| Deleterious probability by DeFine | 0.7543 (Deleterious) |
| Entrez Gene ID | 170692 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ADAMTS18 (GeneCards) |
| Number of variants in ADAMTS18 in this database | 68 (view all the variants) |
| Full name | ADAM metallopeptidase with thrombospondin type 1 motif 18 |
| Band | 16q23.1 |
| Other IDs | Vega: OTTHUMG00000137619 OMIM: 607512 HGNC: HGNC:17110 Ensembl: ENSG00000140873 |
| Other names | KNO2, MMCAT, ADAMTS21 |
| Summary | This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members 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 protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016] |
| Individual ID | 25999502.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 25999502 |
| Whose mosaic mutation | Normal |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 25999502 |
|---|---|
| Title | High burden and pervasive positive selection of somatic mutations in normal human skin |
| Journal | Science |
| Publication date | 2015.05 |
| Disease | Asymptomatic |
| Number of cases | Male cases: 1; Female cases: 3; |