| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7465T>C | p.Cys2489Arg | 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 #39 | Disulfide bonds 2489-2500 (C1) | 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) |
|---|---|---|
| 1 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA09FAR F0002 I01 | Proband | Male | de novo | U.S.A. |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Age |
| C-Asc. aortic dilatation | 40 |
| C-Mitral valve prolapse | 40 |
| O-Ectopia lentis | 40 |
| S-Arachnodactyly (M) | 40 |
| S-Chest deformity (unspecified) | 40 |
| S-Dolichostenomelia | 40 |
| S-High arched palate | 40 |
| S-Kyphosis | 40 |
| S-Scoliosis > 20° (M)(1) | 40 |
| Reference ID | PubMed ID | Reference |
| 210 | 11251996 | Toudjarska I, Kilpatrick MW, Lembessis P, Carra S, Harton GL, Sisson ME, Black SH, Stern HJ, Gelman-Kohan Z, Shohat M, Tsipouras P. "Novel approach to the molecular diagnosis of Marfan syndrome: application to sporadic cases and in prenatal diagnosis". Am J Med Genet. 2001 Apr 1;99(4):294-302. |