| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2261A>G | p.Tyr754Cys | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TAT | Tyr | TGT | Cys | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #07 | conserved AA in cbEGF-like | 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 |
| CHI08BEI F0005 I0001 | Proband | Female | familial | CHINA |
| Phenotypic group | Disease |
| NA | Dominant ectopia lentis |
| Symptom | Severity |
| O-Ectopia lentis | bilateral |
| Reference ID | PubMed ID | Reference |
| 234 | 22393277 | Li H, Qu W, Meng B, Zhang S, Yang T, Huang S, Yuan H. "Identification and study of a FBN1 gene mutation in a Chinese family with ectopia lentis". Mol Vis. 2012;18:504-11. |