| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.8176C>T | p.Arg2726Trp | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGG | Arg | TGG | Trp | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| FibuCTDIII-like motif | No | 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) | 94 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| ITA01FLO F0111 I0001 | Proband | Male | NA | 19 | ITALIA |
| Phenotypic group | Disease |
| NA | NA |
| Symptom | Age |
| C-Aortic insufficiency | 19 |
| C-Bicuspid aortic valve | 19 |
| C-Mitral valve prolapse | 19 |
| O-Myopia | 19 |
| Reference ID | PubMed ID | Reference |
| 282 | 24564502 | Pepe G, Nistri S, Giusti B, Sticchi E, Attanasio M, Porciani C, Abbate R, Bonow RO, Yacoub M, Gensini GF. "Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome". BMC Med Genet. 2014 Feb 24;15:23. |