| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7116dup | p.Pro2373SerfsX4 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CCC | Pro | ins1a | Fs. | Stop at 2376 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP #07 |
| At the mRNA level | On restriction map |
| One base duplication | 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 F0020 I3484 | Proband | Male | familial | Unknown | U.S.A |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Mitral regurgitation |
| C-Mitral valve prolapse |
| O-Myopia |
| S-Arachnodactyly (M) |
| S-Chest deformity (unspecified) |
| S-Increased body length |
| S-Joint hypermobility (m) |
| S-Plain pes planus (M)(1) |
| S-Scoliosis > 20° (M)(1) |
| SI-Significant striae atrophicae (m)(1) |
| Reference ID | PubMed ID | Reference |
| 102 | - | Hyland JC (Personal communication 2003). |