| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1868G>T | p.Cys623Phe | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | TTC | Phe | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #06 | Disulfide bonds 623-637 (C2) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): BspH I 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 F0028 I01 | Proband | NA | familial | ITALIA |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Age |
| C-Mitral valve prolapse | 33 |
| CNS-Lumbosacral dural ectasia | 33 |
| O-Ectopia lentis | 33 |
| S-Arm span/height >1.05 (M) | 33 |
| S-Pectus carinatum (M)(2) | 33 |
| S-Reduced extension of the elbows (<170°)(M)(1) | 33 |
| SI-Significant striae atrophicae (m)(1) | 33 |
| 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. |