| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4936T>C | p.Cys1646Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | CGT | Arg | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #23 | Disulfide bonds 1633-1646 (C6) | 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) |
|---|---|---|
| 1 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| ITA01FLO F0091 I0001 | Proband | NA | de novo | ITALIA |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom | Severity | Age |
| C-Asc. aortic dilatation | 40 | |
| C-Mitral valve prolapse | 40 | |
| CNS-Lumbosacral dural ectasia | 45 | |
| O-Ectopia lentis | surgery | 5 |
| S-Arachnodactyly (M) | 47 | |
| S-High arched palate | 47 | |
| S-Reduced extension of the elbows (<170°)(M)(1) | 47 | |
| SI-Significant striae atrophicae (m)(1) | 47 |
| Reference ID | PubMed ID | Reference |
| 175 | 18087243 | Pepe G, Lapini I, Evangelisti L, Attanasio M, Giusti B, Lucarini L, Fattori R, Pellican˜ G, Scrivanti M, Porciani MC, Abbate R, Gensini GF. "Is ectopia lentis in some cases a mild phenotypic expression of Marfan syndrome? Need for a long-term follow-up". Mol Vis. 2007 Nov 29;13:2242-7. |