| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1426T>C | p.Cys476Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | CGC | Arg | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EGF-like #04 | Disulfide bonds 476-488 (C5) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Hha I, HinP 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 |
| USA03STA F0091 I0001 | Proband | Female | familial | 4 | U.S.A. |
| Phenotypic group | Disease |
| NA | NA |
| Symptom | Severity | Age |
| C-Mitral regurgitation | mild | 4 |
| C-Mitral valve prolapse | 4 | |
| O-Cataract | bilateral | 5 |
| O-Ectopia lentis | bilateral | 4 |
| O-Lens extraction | 5 | |
| O-Lens implantation | 5 |
| 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. |