| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.5225_5422del | p.Glu1743_Asp1808del | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | del198b | InF | In frame del | InF |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#05 | No |
| At the mRNA level | On restriction map |
| Multi-exon deletion (flanked pentamers found) | New restriction site(s): none Lost restriction site(s): Fnu4H I |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA03STA F0064 I774 | Proband | Female | de novo | 15 years old | U.S.A |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| O-Ectopia lentis | bilateral |
| O-Glaucoma | |
| O-Myopia | |
| S-Arachnodactyly (M) | |
| S-Chest deformity (unspecified) | |
| S-Crowding teeth (m) | |
| S-High arched palate | |
| S-Joint hypermobility (m) | |
| S-Plain pes planus (M)(1) | |
| SI-Significant striae atrophicae (m)(1) |
| Reference ID | PubMed ID | Reference |
| 91 | 11710961 | Liu W, Schrijver I, Brenn T, Furthmayr H, Francke U. "Multi-exon deletions of the FBN1 gene in Marfan syndrome". BMC Med Genet. 2001;2(1):11. |