| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.59A>G | p.Tyr20Cys | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TAC | Tyr | TGC | Cys | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Signal peptide | 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) |
|---|---|---|
| 0.5 | 0.19 (non pathogenous) | 71 (Probably pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| ITA02PAV F0009 I01 | Proband | Male | familial | ITALIA |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom | Age |
| C-No cardiovascular involvement | 14 |
| L-Spontaneous pneumothorax | 14 |
| O-No implication | 14 |
| 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. |