| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1421_1468del | p.Cys474_Asp490delinsTyr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | del48b | InF | In frame del | InF |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EGF-like #04 | Disulfide bonds 460-474 (C4) |
| 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 |
| FIN01HEL F0020 I01 | Proband | Male | de novo | ? (22 years old) | FINLAND |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Mitral valve prolapse |
| C-Tricuspid valve prolapse |
| O-Ectopia lentis |
| O-Myopia |
| S-Arachnodactyly (M) |
| S-High arched palate |
| S-Joint hypermobility (m) |
| S-Scoliosis > 20° (M)(1) |
| SI-Inguinal hernia |
| SI-Significant striae atrophicae (m)(1) |
| Reference ID | PubMed ID | Reference |
| 68 | - | Rantamaki T, Peltonnen L (Personal communication 2000). |