| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2446T>C | p.Cys816Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | CGC | Arg | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #09 | Disulfide bonds 816-830 (C2) | Yes, coding strand | 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 |
| ITA01FLO F0032 I01 | Proband | NA | de novo | ITALIA |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Age |
| C-Asc. aortic dilatation | 15 |
| C-Mitral valve prolapse | 15 |
| O-Ectopia lentis | 15 |
| S-Arm span/height >1.05 (M) | 15 |
| S-Plain pes planus (M)(1) | 15 |
| Reference ID | PubMed ID | Reference |
| 146 | 18435798 | Attanasio M, Lapini I, Evangelisti L, Lucarini L, Giusti B, Porciani MC, Fattori R, Anichini C, Abbate R, Gensini GF, Pepe G. "FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations". Clin Genet. 2008 Jul;74(1):39-46. |