| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6497_6616del | p.Thr2167_Asp2206del | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | del120b | InF | In frame del | InF |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #33 | Ca2+ binding |
| At the mRNA level | On restriction map |
| No mechanism suspected | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| BEL01GHE F0013 I1539 | Proband | Female | de novo | 40 years old | BELGIUM |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Mitral valve prolapse |
| O-Ectopia lentis |
| S-Chest deformity (unspecified) |
| S-High arched palate |
| S-Incomplete description |
| S-Joint hypermobility (m) |
| S-Reduced US/LS ratio <0.87 (M) |
| SI-Significant striae atrophicae (m)(1) |
| Reference ID | PubMed ID | Reference |
| 89 | 11700157 | Loeys B, Nuytinck L, Delvaux I, De Bie S, De Paepe A. "Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome". Arch Intern Med. 2001 Nov 12;161(20):2447-54. |