| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.989_1468del | p.Val331_Asp490del | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | del480b | InF | In frame del | InF |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#01 | conserved AA in TGFBP |
| 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 |
| USA07POR F0003 I0001 | Proband | NA | NA | U.S.A |
| Phenotypic group | Disease |
| NA | Weil-Marchesani |
| Symptom |
| Clinical data will be implemented as soon as possible |
| Reference ID | PubMed ID | Reference |
| 130 | - | Sakai L. 7th International Research Symposium on the Marfan Syndrome. Ghent , Belgium, September 14-17, 2005. |