| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4588C>T | p.Arg1530Cys | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGC | Arg | TGC | Cys | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#04 | conserved AA in TGFBP | Yes, coding strand | Yes |
| 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) |
|---|---|---|
| 1 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| CHI05HAN F0007 I0001 | Proband | Female | familial | £? (19 years old) | CHINA |
| Phenotypic group | Disease |
| NA | Dominant ectopia lentis |
| Symptom | Age |
| O-Ectopia lentis | 19 |
| O-Flat cornea (<42 dp) (m) | 19 |
| O-Myopia | 19 |
| S-Arachnodactyly (M) | 19 |
| S-Crowding teeth (m) | 19 |
| S-Reduced extension of the elbows (<170°)(M)(1) | 19 |
| S-Scoliosis > 20° (M)(1) | 19 |
| 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. |