| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.8326C>T | p.Arg2776X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGA | Arg | TGA | Stop | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| FibuCTDIII-like motif | Yes, coding strand | Yes |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): BstB I, Taq I |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UKD01EDI F0003 I58 | Proband | Female | NA | at 48 years old | U.K. |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Aortic insufficiency |
| C-Asc. aortic dilatation |
| C-Asc. aortic dissection |
| O-Myopia |
| S-Arachnodactyly (M) |
| S-Chest deformity (unspecified) |
| S-Dolichostenomelia |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 19 | 7911051 | Hayward C, Porteous ME, Brock DJ. "Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniques". Hum Mutat 1994;3(2):159-62 . |