| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7456_7821del | p.Leu2486_Asp2607del | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CTT | Leu | del366a | InF | In frame del | InF |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #39 | Ca2+ binding |
| 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 F0001 I04 | Relative | Male | familial | U.K. |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity | Age |
| C-Congestive heart failure | severe | |
| C-Mitral valve prolapse | severe | |
| C-Mitral valve prolapse | replacement | 39 |
| Reference ID | PubMed ID | Reference |
| 209 | 7945217 | Raghunath M, Kielty CM, Kainulainen K, Child A, Peltonen L, Steinmann B. "Analyses of truncated fibrillin caused by a 366 bp deletion in the FBN1 gene resulting in Marfan syndrome". Biochem J. 1994;302 (Pt 3):889-96. |