| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1843_1845delAAC | p.Asn615del | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAC | Asn | del3a | InF | In frame del | InF |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #06 | 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 F0058 I0472 | Proband | Male | de novo | 5 years old | BELGIUM |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Asc. aortic dilatation |
| CF-Dolichocephaly |
| CF-Down-slanting palpebral fissures |
| CF-Malar hypoplasia |
| CF-Retrognathia |
| O-Ectopia lentis |
| S-Arm span/height >1.05 (M) |
| S-Chest deformity (unspecified) |
| S-Joint hypermobility (m) |
| S-Plain pes planus (M)(1) |
| S-Scoliosis > 20° (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. |