| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.976delA | p.Thr326ProfsX4 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ACC | Thr | del1a | Fs. | Stop at 329 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #02 |
| 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 |
| USA04NOR F0012 I3524 | Proband | Female | familial | Unknown | U.S.A |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Aortic insufficiency |
| C-Asc. aortic dilatation |
| O-Myopia |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 102 | - | Hyland JC (Personal communication 2003). |