Details
| Name | G-->A |
| Type | somatic mutation |
| Species | Homo sapiens |
| Tissue | NA |
| Experiment Method | Cell Culture |
| Up/Down | Down |
| Pro/Anti | Anti |
| Funtion Description | A G-->A transition results in a single amino acid substitution, G571S, in the triple helical domain of the products of one COL3A1 allele.Although the clinical findings seen on examination are characteristic of EDS type IV, longevity is longer than that se |
| Regulation Gene | COL3A1 |
| Year | 1999 |
| Pubmed ID | 10051163 |
| Title | Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: low risk of pregnancy complications and unexpected longevity in some affected relatives. |
| Drug | NA |
| Disease | NA |
| Environment Factors | NA |
| Circulating | NA |
| Variant | NA |
| High-throughput | NA |