| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.5431G>A | p.Glu1811Lys | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAG | Glu | AAG | Lys | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #26 | Ca2+ binding | Yes, non coding strand | Yes |
| 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) | 76 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| ITA01FLO F0054 I01 | Proband | NA | de novo | (38 years old) | ITALIA |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Age |
| C-Asc. aortic dilatation | 38 |
| O-Ectopia lentis | 38 |
| S-Arm span/height >1.05 (M) | 38 |
| S-Pectus carinatum (M)(2) | 38 |
| 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. |