| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2570dup | p.Ile858HisfsX2 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GTC | Val | ins1c | Fs. | Stop at 859 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Hybrid motif #02 |
| 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 |
| JAP03OSA F0003 I0001 | Proband | Male | familial | ? (48 years old) | JAPAN |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Aortic insufficiency |
| C-Asc. aortic dilatation |
| C-Mitral regurgitation |
| O-Incomplete description |
| S-Incomplete description |
| Reference ID | PubMed ID | Reference |
| 55 | 11139245 | Matsukawa R, Iida K, Nakayama M, Mukai T, Okita Y, Ando M, Takamoto S, Nakajima N, Morisaki H, Morisaki T. "Eight novel mutations of the FBN1 gene found in japanese patients with marfan syndrome". Hum Mutat 2001;17(1):71-2. |