| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1585C>T | p.Arg529X | 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 #03 | Ca2+ binding | Yes, coding strand | Yes |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Dde I Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA01BAL F0030 I01 | Proband | Male | familial | at 24 years old | U.S.A |
| Phenotypic group | Disease |
| Type II or IV ? | Classical MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Asc. aortic dissection |
| O-Myopia |
| S-Dolichostenomelia |
| S-Joint hypermobility (m) |
| S-Pectus carinatum (M)(2) |
| S-Plain pes planus (M)(1) |
| S-Scoliosis > 20° (M)(1) |
| SI-Significant striae atrophicae (m)(1) |
| Reference ID | PubMed ID | Reference |
| 60 | 9837823 | Montgomery RA, Geraghty MT, Bull E, Gelb BD, Johnson M, McIntosh I, Francomano CA, Dietz HC. "Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome". Am J Hum Genet 1998 Dec;63(6):1703-11 . |