| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4539C>G | p.Cys1513Trp | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | TGG | Trp | C->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #22 | Disulfide bonds 1513-1526 (C5) | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Eae I, Hae III, Hae I, Msc I Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 1 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| CAN01TOR F0010 I0001 | Proband | NA | NA | CANADA |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom | Age |
| C-Asc. aortic dilatation | 14 |
| O-Ectopia lentis | 14 |
| 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. |