| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3793T>C | p.Cys1265Arg | 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 |
| cb EGF-like #16 | Disulfide bonds 1265-1278 (C5) | 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 |
| USA01BAL F0032 I01 | Proband | Female | familial | in late adolescence | U.S.A |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| O-Ectopia lentis | bilateral |
| S-Arachnodactyly (M) | |
| S-Dolichostenomelia | |
| S-Plain pes planus (M)(1) |
| Reference ID | PubMed ID | Reference |
| 60 | 9837823 | Montgomery RA, Geraghty MT, Bull E, Gelb BD, Johnson M, McIntosh I, Francomano CA, Dietz HC. "Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome". Am J Hum Genet 1998 Dec;63(6):1703-11 . |