| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3464_3480del | p.Asp1155AlafsX32 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAC | Asp | del17b | Fs. | Stop at 1186 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #14 | 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 |
| USA03STA F0003 I773 | Proband | NA | familial | U.S.A |
| Phenotypic group | Disease |
| Type II | Incomplete MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | surgery |
| C-Mitral valve prolapse | |
| S-Increased body length | |
| S-Long bone over growth | |
| S-Pectus excavatum moderate (m)(1) |
| Reference ID | PubMed ID | Reference |
| 12 | 8281141 | Tynan K, Comeau K, Pearson M, Wilgenbus P, Levitt D, Gasner C, Berg MA, Miller DC, Francke U. "Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains". Hum Mol Genet 1993 Nov;2(11):1813-21 . |