| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2920C>T | p.Arg974Cys | 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#03 | Yes, coding strand | Yes |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): Hae III |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 94 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| CHI08BEI F0006 I0013 | Relative | Male | familial | CHINA |
| Phenotypic group | Disease |
| NA | Dominant ectopia lentis |
| Symptom |
| O-Ectopia lentis |
| Reference ID | PubMed ID | Reference |
| 237 | 22539873 | Yang G, Chu M, Zhai X, Zhao J. "A novel FBN1 mutation in a Chinese family with isolated ectopia lentis". Mol Vis. 2012;18:945-50. |