| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7754T>C | p.Ile2585Thr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ATT | Ile | ACT | Thr | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #41 | Ca2+ binding | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 1 | 0.03 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| AUS01NAD F0024 I30 | Proband | Female | familial | 40-45 years old | AUSTRALIA |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Asc. aortic dilatation |
| C-Asc. aortic dilatation |
| C-Mitral regurgitation |
| S-Dolichostenomelia |
| S-High arched palate |
| S-Joint hypermobility (m) |
| S-Reduced US/LS ratio <0.87 (M) |
| S-Scoliosis > 20° (M)(1) |
| SI-Significant striae atrophicae (m)(1) |
| Reference ID | PubMed ID | Reference |
| 71 | - | Ad*s L, Holman KJ (personal communication 2000). |