| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.5898delA | p.Asp1967MetfsX13 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CCA | Pro | del1c | Fs. | Stop at 1979 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #29 |
| 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 F0002 I01 | Proband | Male | NA | ? (13 years old) | BELGIUM |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Mitral valve prolapse |
| S-Characteristic facial appearance |
| S-Crumpled ears |
| S-Dolichostenomelia |
| S-Foot deformity |
| S-High arched palate |
| S-Joint hypermobility (m) |
| S-Leg deformity |
| S-Long bone over growth |
| S-Pectus excavatum moderate (m)(1) |
| S-Plain pes planus (M)(1) |
| S-Scoliosis > 20° (M)(1) |
| SI-Loose, redundant skin |
| 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. |