| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.670T>C | p.Cys224Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | CGT | Arg | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Hybrid module#01 | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.67 | 0.00 (pathogenous) | 94 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| ITA02PAV F0012 I01 | Proband | Male | Familial (not proven | ITALIA |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom | Age |
| C-Mitral valve prolapse | 33 |
| CNS-Lumbosacral dural ectasia | 33 |
| O-Ectopia lentis | 33 |
| Reference ID | PubMed ID | Reference |
| 125 | 16222657 | Arbustini E, Grasso M, Ansaldi S, Malattia C, Pilotto A, Porcu E, Disabella E, Marziliano N, Pisani A, Lanzarini L, Mannarino S, Larizza D, Mosconi M, Antoniazzi E, Zoia MC, Meloni G, Magrassi L, Brega A, Bedeschi MF, Torrente I, Mari F, Tavazzi L. "Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies". Hum Mutat. 2005 Nov;26(5):494. |