| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.586C>T | p.Gln196X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CAG | Gln | TAG | Stop | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Hybrid module#01 | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Rma I Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| JAP06HIR F0001 I0001 | Proband | NA | familial | JAPAN |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Mitral regurgitation |
| C-Mitral valve prolapse |
| O-Flat cornea (<42 dp) (m) |
| S-Arachnodactyly (M) |
| S-Arm span/height >1.05 (M) |
| S-Pectus carinatum (M)(2) |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 119 | 15221638 | Uyeda T, Takahashi T, Eto S, Sato T, Xu G, Kanezaki R, Toki T, Yonesaka S, Ito E. "Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients". J Hum Genet. 2004;49(8):404-7. |