| 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 |
| AUS02WES F0005 I01 | Proband | NA | NA | AUSTRALIA |
| Phenotypic group | Disease |
| NA | Dominant ectopia lentis |
| Symptom |
| O-Ectopia lentis |
| Reference ID | PubMed ID | Reference |
| 116 | 15054843 | Ades LC, Holman KJ, Brett MS, Edwards MJ, Bennetts B. "Ectopia lentis phenotypes and the FBN1 gene". Am J Med Genet. 2004; 126A (3):284-9. |