| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6577G>T | p.Glu2193X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAG | Glu | TAG | Stop | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #33 | Yes, non 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 |
| AUS01NAD F0023 I43 | Proband | Female | familial | 12 years old (13 years old) | AUSTRALIA |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Asc. aortic dilatation |
| C-Mitral valve prolapse |
| O-Ectopia lentis |
| O-Iridodonesis |
| O-Myopia |
| S-Chest deformity (unspecified) |
| S-Dolichostenomelia |
| S-High arched palate |
| S-Joint limitations |
| S-Reduced US/LS ratio <0.87 (M) |
| S-Scoliosis > 20° (M)(1) |
| SI-Significant striae atrophicae (m)(1) |
| SI-Varicose veins |
| Reference ID | PubMed ID | Reference |
| 114 | 14695540 | Biggin A, Holman K, Brett M, Bennetts B, Ades L. "Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy". Hum Mutat. 2004 Jan;23(1):99. |