| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.203G>T | p.Cys68Phe | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | TTC | Phe | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| 4-cys motif LTBP-like | 4-cysteine motif | 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 |
| CHI05HAN F0001 I0001 | Proband | Female | de novo | CHINA |
| Phenotypic group | Disease |
| NA | Dominant ectopia lentis |
| Symptom | Severity | Age |
| C-Cardiac malformation | Atrial septal defect | 15 |
| C-Mitral regurgitation | moderate | 15 |
| O-Ectopia lentis | 15 | |
| O-Myopia | 15 | |
| S-Arachnodactyly (M) | 15 | |
| S-Crowding teeth (m) | 15 | |
| S-Pectus carinatum (M)(2) | 15 |
| 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. |