| Variant ID | 31072 |
|---|---|
| Entrez Gene ID | 11086 |
| Gene | ADAM29 (GeneCards) |
| Location | hg19 4:175898062-175898062
hg38 4:174976911-174976911 |
| Disease | Asymptomatic |
| Method | NGS gene panel |
| Mutation(HGVS format) | NC_000004.11:g.175898062 T>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 462 |
| Amino acid changes in protein | C > * |
| Position in cDNA | 1386 |
| Changes in cDNA | T > A |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.218 |
| CADD Raw score (version 1.3) | 7.743932 (Deleterious) |
| FATHMM raw prediction score | 0.95098 (Tolerated) |
| LRT score | 0.001 |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.24 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.685 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 6.941 |
| Deleterious probability by DeFine | 0.791 (Deleterious) |
| Entrez Gene ID | 11086 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ADAM29 (GeneCards) |
| Number of variants in ADAM29 in this database | 51 (view all the variants) |
| Full name | ADAM metallopeptidase domain 29 |
| Band | 4q34.1 |
| Other IDs | Vega: OTTHUMG00000160764 OMIM: 604778 HGNC: HGNC:207 Ensembl: ENSG00000168594 |
| Other names | CT73, svph1 |
| Summary | This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is highly expressed in testis and may be involved in human spermatogenesis. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Jul 2008] |
| Individual ID | 25999502.01 (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; |