| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2051G>A | p.Cys684Tyr | 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 |
| TGFBP#02 | C in disulfide bonds 684-699 | 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 |
| USA03STA F0085 I0001 | Proband | Female | de novo | 2 | U.S.A. |
| Phenotypic group | Disease |
| NA | NA |
| Symptom | Severity | Age |
| C-Asc. aortic dilatation | 3 | |
| C-Mitral regurgitation | 17 | |
| C-Mitral valve prolapse | mild | 17 |
| O-Ectopia lentis | bilateral | 2 |
| O-Ectopia lentis | surgery | 3 |
| S-Scoliosis > 20° (M)(1) | mild | 2 |
| Reference ID | PubMed ID | Reference |
| 228 | 21932315 | Zadeh N, Bernstein JA, Niemi AK, Dugan S, Kwan A, Liang D, Hyland JC, Hoyme HE, Hudgins L, Manning MA. "Ectopia lentis as the presenting and primary feature in Marfan syndrome". Am J Med Genet A. 2011 Nov;155A(11):2661-8. |