| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.5826C>A | p.Cys1942X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | TGA | Stop | C->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #29 | Disulfide bonds 1942-1956 (C2) | No | 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 |
| USA03STA F0077 I768 | Proband | NA | familial | ? (24 years old) | U.S.A |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| C-Mitral regurgitation | |
| C-Mitral valve prolapse | |
| O-Myopia | |
| S-Arachnodactyly (M) | |
| S-Crowding teeth (m) | |
| S-High arched palate | |
| S-Joint hypermobility (m) | |
| S-Joint limitations | |
| S-Pectus excavatum moderate (m)(1) | |
| S-Scoliosis > 20° (M)(1) | severe |
| SI-Significant striae atrophicae (m)(1) |
| Reference ID | PubMed ID | Reference |
| 104 | 12068374 | Schrijver I, Liu W, Odom R, Brenn T, Oefner P, Furthmayr H, Francke U. "Premature termination mutations in FBN1: Distinct effects on Differencial allelic expression and on protein and clinical phenotypes". Am J Hum Genet, 2002, 71: 223-237. |