| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6658C>T | p.Arg2220X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGA | Arg | TGA | Stop | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #34 | Yes, coding strand | Yes |
| At the mRNA level | On restriction map |
| NA | 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 F0109 I0001 | Proband | Female | NA | ITALIA |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 253 | 23684891 | Attanasio M, Pratelli E, Porciani MC, Evangelisti L, Torricelli E, Pellican˜ G, Abbate R, Gensini GF, Pepe G. "Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: role of dural ectasia for the diagnosis". Eur J Med Genet. 2013 Jul;56(7):356-60. |