| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3373C>T | p.Arg1125X | 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 |
| cb EGF-like #13 | Yes, coding strand | Yes |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA04NOR F0014 I3599 | Proband | Male | de novo | Unknown | U.S.A |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom | Severity |
| C-Mitral regurgitation | |
| C-Mitral regurgitation | |
| C-Mitral regurgitation | |
| C-Mitral valve prolapse | |
| CF-Dolichocephaly | |
| CNS-Lumbosacral dural ectasia | suspected |
| S-Arachnodactyly (M) | |
| S-Chest deformity (unspecified) | |
| S-High arched palate | |
| S-Increased body length | |
| S-Joint hypermobility (m) |
| Reference ID | PubMed ID | Reference |
| 102 | - | Hyland JC (Personal communication 2003). |