| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.5912G>A | p.Cys1971Tyr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | TAT | Tyr | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #29 | Disulfide bonds 1958-1971 (C6) | 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 |
| BEL01GHE F0074 I0001 | Proband | NA | NA | BELGIUM |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Age |
| C-Asc. aortic dilatation | 2 |
| C-Mitral regurgitation | 2 |
| O-Ectopia lentis | 2 |
| Reference ID | PubMed ID | Reference |
| 92 | 11722462 | Gardella R, Nuytinck L, Barlati S, Van Acker P, Tadini G, De Paepe A, Colombi M. "Characterization of mutations leading to recessive dystrophic epidermolysis bullosa and Marfan syndrome in a single patient". Clin Exp Dermatol. 2001 Nov;26(8):710-3. |