| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3524T>C | p.Ile1175Thr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ATA | Ile | ACA | Thr | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #14 | Ca2+ binding | No | 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) |
|---|---|---|
| 0.67 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UKD03DUN F0005 I01 | Proband | Male | de novo | U.K. |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom | Severity |
| C-Aortic insufficiency | surgery |
| S-Joint hypermobility (m) | |
| SI-Significant striae atrophicae (m)(1) |
| Reference ID | PubMed ID | Reference |
| 70 | - | Black C, Boxer M (Personnal communication 2000). |