| Variant ID | 896 |
|---|---|
| Entrez Gene ID | 1282 |
| Gene | COL4A1 (GeneCards) |
| Location | hg19 13:110831720-110831720
hg38 13:110179373-110179373 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000013.10:g.110831720 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 748 |
| Amino acid changes in protein | P > S |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3504 |
| CADD Raw score (version 1.3) | 4.50081 (Deleterious) |
| FATHMM raw prediction score | 0.99039 (Tolerated) |
| SIFT score | 0.068 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.24 (Tolerated) |
| PROVEAN score | -3.5 (Deleterious) |
| MetaSVM score | 0.991 (Deleterious) |
| MetaLR score | 0.928 (Deleterious) |
| MCAP score | 0.298 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.7 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.714 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.034 |
| Deleterious probability by iFish2 | 0.7879 (Deleterious) |
| Deleterious probability by DeFine | 0.9541 (Deleterious) |
| Entrez Gene ID | 1282 (NCBI Gene) |
|---|---|
| Official Gene Symbol | COL4A1 (GeneCards) |
| Number of variants in COL4A1 in this database | 2 (view all the variants) |
| Full name | collagen type IV alpha 1 chain |
| Band | 13q34 |
| Other IDs | Vega: OTTHUMG00000017342 OMIM: 120130 HGNC: HGNC:2202 Ensembl: ENSG00000187498 |
| Other names | BSVD, RATOR |
| Summary | This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] |
| Individual ID | 27788131.02 (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; |