| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4459insTTTTAG | p.Asp1487PhefsX2 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | ins6a | InF | Stop at 1488 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #22 | 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 |
| ITA01FLO F0088 I0001 | Proband | Female | familial | ITALIA |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom | Severity | Age |
| CF-Dolichocephaly | 54 | |
| CNS-Lumbosacral dural ectasia | 54 | |
| O-Ectopia lentis | surgery | 3 |
| S-Chest deformity (unspecified) | 54 | |
| S-High arched palate | 54 | |
| S-Reduced extension of the elbows (<170°)(M)(1) | 54 | |
| S-Scoliosis > 20° (M)(1) | 54 |
| Reference ID | PubMed ID | Reference |
| 175 | 18087243 | Pepe G, Lapini I, Evangelisti L, Attanasio M, Giusti B, Lucarini L, Fattori R, Pellican˜ G, Scrivanti M, Porciani MC, Abbate R, Gensini GF. "Is ectopia lentis in some cases a mild phenotypic expression of Marfan syndrome? Need for a long-term follow-up". Mol Vis. 2007 Nov 29;13:2242-7. |