| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3623delG | p.Cys1208LeufsX22 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | del1b | Fs. | Stop at 1229 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #15 | Disulfide bonds 1208-1221 (C2) |
| 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 F0003 I01 | Proband | Male | familial | ? (7 years old) | BELGIUM |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| C-Mitral valve prolapse | |
| O-Astigmatism | |
| S-Characteristic facial appearance | |
| S-Chest deformity (unspecified) | |
| S-High arched palate | |
| S-Joint hypermobility (m) | |
| S-Lordosis | severe |
| S-Plain pes planus (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. |