| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.184C>T | p.Arg62Cys | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGT | Arg | TGT | Cys | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| 4-cys motif LTBP-like | No | Yes |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Nla III Lost restriction site(s): Mae II |
| 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 |
| CHI15SHI F0001 I0005 | Relative | Female | familial | CHINA |
| Phenotypic group | Disease |
| NA | Dominant ectopia lentis |
| Symptom | Age |
| O-Divergent strabismus | 18 |
| O-Ectopia lentis | 18 |
| O-Glaucoma | 18 |
| Reference ID | PubMed ID | Reference |
| 250 | 22950452 | Zhao JH, Jin TB, Liu QB, Chen C, Hu HT. "Ophthalmic findings in a family with early-onset isolated ectopia lentis and the p.Arg62Cys mutation of the fibrillin-1 gene (FBN1)". Ophthalmic Genet. 2013 Mar-Jun;34(1-2):21-6. |