| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.368G>A | p.Cys123Tyr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | TAT | Tyr | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EGF-like #02 | Disulfide bonds 123-134 (C2) | 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) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| ITA01FLO F0011 I01 | Proband | NA | NA | ITALIA |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Age |
| C-Asc. aortic dilatation | 28 |
| CNS-Lumbosacral dural ectasia | 28 |
| O-Ectopia lentis | 28 |
| S-Arm span/height >1.05 (M) | 28 |
| S-Pectus carinatum (M)(2) | 28 |
| S-Plain pes planus (M)(1) | 28 |
| S-Reduced extension of the elbows (<170°)(M)(1) | 28 |
| Reference ID | PubMed ID | Reference |
| 146 | 18435798 | Attanasio M, Lapini I, Evangelisti L, Lucarini L, Giusti B, Porciani MC, Fattori R, Anichini C, Abbate R, Gensini GF, Pepe G. "FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations". Clin Genet. 2008 Jul;74(1):39-46. |