| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2860C>T | p.Arg954Cys | 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 | 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) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| CHI10BEI F0001 I0001 | Proband | Male | familial | 37 | CHINA |
| Phenotypic group | Disease |
| NA | Dominant ectopia lentis |
| Symptom | Age |
| O-Ectopia lentis | 37 |
| O-Glaucoma | 37 |
| Reference ID | PubMed ID | Reference |
| 166 | 18615205 | Deng T, Dong B, Zhang X, Dai H, Li Y. "Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1". Mol Vis. 2008 Jun 30;14:1229-33. |