| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1759T>C | p.Cys587Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | CGT | Arg | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #05 | Disulfide bonds 576-587 (C3) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.67 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| CHI14CHE F0001 I0002 | Relative | Male | familial | CHINA |
| Phenotypic group | Disease |
| NA | Dominant ectopia lentis |
| Symptom | Severity | Age |
| O-Ectopia lentis | bilateral | 69 |
| O-Myopia | 69 |
| Reference ID | PubMed ID | Reference |
| 231 | 22219643 | Liang C, Fan W, Wu S, Liu Y. "Identification of a novel FBN1 mutation in a Chinese family with isolated ectopia lentis". Mol Vis. 2011;17:3481-5. |