| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2412_2413delAT | p.Cys805X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ACA | Thr | del2c | Fs. | Stop at 805 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #08 |
| 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 |
| ITA01FLO F0004 I07 | Proband | Female | de novo | 27 years old | ITALIA |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| C-Mitral valve prolapse | mild |
| C-Tricuspid valve prolapse | moderate |
| O-Myopia | mild |
| S-Arachnodactyly (M) | |
| S-Arm span/height >1.05 (M) | |
| S-Scoliosis > 20° (M)(1) | surgery |
| S-Valgus elbow | bilateral |
| SI-Significant striae atrophicae (m)(1) |
| Reference ID | PubMed ID | Reference |
| 93 | 11453977 | Pepe G, Giusti B, Evangelisti L, Porciani MC, Brunelli T, Giurlani L, Attanasio M, Fattori R, Bagni C, Comeglio P, Abbate R, Gensini GF. "Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation". Clin Genet. 2001 Jun;59(6):444-50. |