| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.502T>C | p.Cys168Arg | 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#03 | Disulfide bonds 168-177 (C5) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): ApaL I, Bsp1286 I, HgiA I Lost restriction site(s): Nla III, Sph I |
| 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 |
| CHI05HAN F0002 I0001 | Proband | Female | familial | ? (7 years old | CHINA |
| Phenotypic group | Disease |
| NA | Dominant ectopia lentis |
| Symptom | Age |
| O-Ectopia lentis | 7 |
| O-Flat cornea (<42 dp) (m) | 7 |
| O-Myopia | 7 |
| Reference ID | PubMed ID | Reference |
| 154 | 17679947 | Jin C, Yao K, Jiang J, Tang X, Shentu X, Wu R. "Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients". Mol Vis. 2007 Jul 24;13:1280-4. |