| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1601G>A | p.Cys534Tyr | 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 |
| cb EGF-like #04 | Disulfide bonds 534-546 (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) |
|---|---|---|
| 0.67 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA09FAR F0003 I01 | Proband | Male | de novo | U.S.A. |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom | Severity | Age |
| C-Asc. aortic dilatation | surgery | 30 |
| O-Ectopia lentis | bilateral | 30 |
| S-Arachnodactyly (M) | 30 | |
| S-Chest deformity (unspecified) | 30 | |
| S-Dolichostenomelia | ||
| S-High arched palate | 30 | |
| S-Plain pes planus (M)(1) | 30 | |
| S-Reduced US/LS ratio <0.87 (M) | 30 |
| 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. |