| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1285C>T | p.Arg429X | 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 |
| Proline-rich | Yes, coding strand | Yes |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): Taq I |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER03HAN F0011 I02 | Proband | Male | NA | 41 years old | GERMANY |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Aortic insufficiency | surgery |
| C-Asc. aortic dilatation | surgery |
| C-Mitral regurgitation | |
| C-Mitral valve prolapse | |
| O-Ectopia lentis | bilateral |
| Reference ID | PubMed ID | Reference |
| 107 | 12402346 | Rommel K, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M. "Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations". Hum Mutat. 2002 Nov;20(5):406-7. |