| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2489G>A | p.Cys830Tyr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | TAT | Tyr | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #09 | Disulfide bonds 816-830 (C4) | 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 |
| CAN01TOR F0007 I0001 | Proband | NA | familial | CANADA |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom | Severity | Age |
| C-Asc. aortic dilatation | 12 | |
| O-Ectopia lentis | bilateral | 12 |
| Reference ID | PubMed ID | Reference |
| 264 | 16476890 | Ganesh A, Smith C, Chan W, Unger S, Quercia N, Godfrey M, Kraft S, Buncic R, Levin A. "Immunohistochemical evaluation of conjunctival fibrillin-1 in Marfan syndrome". Arch Ophthalmol. 2006 Feb;124(2):205-9. |