| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.718C>T | p.Arg240Cys | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGC | Arg | TGC | Cys | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Hybrid module#01 | Yes, coding strand | Yes |
| 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) | 94 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| IND01AMR F0001 I0001 | Proband | Male | familial | INDIA |
| Phenotypic group | Disease |
| NA | Dominant ectopia lentis |
| Symptom | Age |
| O-Ectopia lentis | 51 |
| Reference ID | PubMed ID | Reference |
| 172 | 18079676 | Vanita V, Singh JR, Singh D, Varon R, Robinson PN, Sperling K. "A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin". Mol Vis. 2007 Oct 25;13:2035-40. |