| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.5509C>T | p.Pro1837Ser | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CCC | Pro | TCC | Ser | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #26 | 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) |
|---|---|---|
| 1 | 0.19 (non pathogenous) | 65 (Probably pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA05HOU F0014 I18 | Proband | Male | familial | ? (39 years old) | U.S.A |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom |
| C-Aortic insufficiency |
| C-Asc. aortic dilatation |
| C-Mitral regurgitation |
| C-Mitral valve prolapse |
| S-High arched palate |
| S-Reduced US/LS ratio <0.87 (M) |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 34 | 8941093 | Milewicz DM, Michael K, Fisher N, Coselli JS, Markello T, Biddinger A. "Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms". Circulation 1996 Dec 1;94(11):2708-11 . |