| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7661G>A | p.Arg2554Gln | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGG | Arg | CAG | Gln | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #40 | Yes, non coding strand | Yes |
| 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 | 0.00 (pathogenous) | 71 (Probably pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA04NOR F0021 I3602 | Proband | Male | familial | Unknown | U.S.A |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Mitral valve prolapse |
| O-Myopia |
| S-Arachnodactyly (M) |
| S-High arched palate |
| S-Increased body length |
| S-Joint hypermobility (m) |
| Reference ID | PubMed ID | Reference |
| 102 | - | Hyland JC (Personal communication 2003). |