| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.248_346del | p.Pro83_Ile116delinsLeu | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CCC | Pro | del99b | InF | In frame del | InF |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EGF-like #01 |
| 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 |
| JAP02TOK F0044 I0001 | Proband | NA | NA | JAPAN |
| Phenotypic group | Disease |
| NA | NA |
| Symptom |
| no clinical data |
| Reference ID | PubMed ID | Reference |
| 229 | 21907952 | Ogawa N, Imai Y, Takahashi Y, Nawata K, Hara K, Nishimura H, Kato M, Takeda N, Kohro T, Morita H, Taketani T, Morota T, Yamazaki T, Goto J, Tsuji S, Takamoto S, Nagai R, Hirata Y. "Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene". Am J Cardiol. 2011 Dec 15;108(12):1801-7. |