| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4577G>C | p.Cys1526Ser | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | TCT | Ser | G->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #22 | Disulfide bonds 1513-1526 (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) | 82 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| ITA01FLO F0090 I0001 | Proband | Female | familial | 28 years old | ITALIA |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom | Age |
| C-Mitral valve prolapse | 32 |
| CNS-Lumbosacral dural ectasia | 40 |
| O-Ectopia lentis | 8 |
| O-Myopia | 32 |
| O-Retinal detachment | 32 |
| S-Chest deformity (unspecified) | 32 |
| S-Plain pes planus (M)(1) | 32 |
| S-Scoliosis > 20° (M)(1) | 32 |
| SI-Significant striae atrophicae (m)(1) | 32 |
| 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. |