| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.5989A>T | p.Arg1997X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AGA | Arg | TGA | Stop | A->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #30 | Ca2+ binding | Yes, non coding strand | No |
| 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 |
| UKD03DUN F0008 I01 | Proband | Female | familial | ? | U.K. |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Asc. aortic dissection |
| O-Ectopia lentis |
| S-Arachnodactyly (M) |
| S-Arm span/height >1.05 (M) |
| S-High arched palate |
| S-Joint hypermobility (m) |
| SI-Significant striae atrophicae (m)(1) |
| SI-Varicose veins |
| Reference ID | PubMed ID | Reference |
| 70 | - | Black C, Boxer M (Personnal communication 2000). |