| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.635_636delCA | p.Thr212SerfsX10 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ACA | Thr | del2b | Fs. | Stop at 221 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Hybrid module#01 |
| At the mRNA level | On restriction map |
| Deletion of a repeated sequence | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| ITA01FLO F0015 I01 | Proband | NA | de novo | ITALIA |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Age |
| C-Asc. aortic dilatation | 45 |
| C-Asc. aortic dissection | 45 |
| C-Mitral valve prolapse | 45 |
| O-Myopia | 45 |
| S-Arachnodactyly (M) | 45 |
| S-Arm span/height >1.05 (M) | 45 |
| S-Pectus excavatum severe | 45 |
| S-Plain pes planus (M)(1) | 45 |
| S-Reduced extension of the elbows (<170°)(M)(1) | 45 |
| SI-Significant striae atrophicae (m)(1) | 45 |
| Reference ID | PubMed ID | Reference |
| 146 | 18435798 | Attanasio M, Lapini I, Evangelisti L, Lucarini L, Giusti B, Porciani MC, Fattori R, Anichini C, Abbate R, Gensini GF, Pepe G. "FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations". Clin Genet. 2008 Jul;74(1):39-46. |