| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3294C>T | p.Asp1098Asp | Heterozygous | Polymorphism? |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAC | Asp | GAT | Asp | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #12 | No | Yes |
| At the mRNA level | On restriction map |
| Not tested on cDNA (needed) | New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 1.00 (non pathogenous) | 23 (Polymorphism) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| AUS01NAD F0016 I109 | Proband | Female | familial | at 6 yr 10 months | AUSTRALIA |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Mitral valve prolapse |
| CF-Dolichocephaly |
| S-Arachnodactyly (M) |
| S-Characteristic facial appearance |
| S-Chest deformity (unspecified) |
| S-Joint hypermobility (m) |
| S-Plain pes planus (M)(1) |
| S-Reduced US/LS ratio <0.87 (M) |
| Reference ID | PubMed ID | Reference |
| 71 | - | Ad*s L, Holman KJ (personal communication 2000). |