Details
| Name | F71L |
| Type | somatic mutation |
| Species | Homo sapiens |
| Tissue | blood samples |
| Experiment Method | other |
| Up/Down | NA |
| Pro/Anti | Pro |
| Funtion Description | The results are consistent with the hypothesis that the mechanism of ARC in individuals carrying this mutation (F71L) might be due to the overall loss of in vivo chaperone activity due to interaction with other environmental factors. |
| Regulation Gene | CRYAA |
| Year | 2009 |
| Pubmed ID | 19595763 |
| Title | A novel mutation (F71L) in alphaA-crystallin with defective chaperone-like function associated with age-related cataract. |
| Drug | NA |
| Disease | ARC |
| Environment Factors | NA |
| Circulating | 1 |
| Variant | somatic mutation |
| High-throughput | NA |