| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.965C>G | p.Ser322Cys | Homozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TCT | Ser | TGT | Cys | C->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #02 | Yes, coding strand | 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) |
|---|---|---|
| 0.83 | 0.02 (pathogenous) | 69 (Probably pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA11DUR F0001 I0001 | Proband | Male | familial | ? (36 years old) | U.S.A. |
| Phenotypic group | Disease |
| NA | Dominant ectopia lentis |
| Symptom | Severity | Age |
| O-Corneal guttae | 36 | |
| O-Ectopia lentis | bilateral | 8 |
| O-Glaucoma | 8 | |
| S-Chest deformity (unspecified) | 36 | |
| S-High arched palate | 36 | |
| S-Joint limitations | 36 |
| Reference ID | PubMed ID | Reference |
| 161 | 16971892 | Challa P, Hauser MA, Luna CC, Freedman SF, Pericak-Vance M, Yang J, McDonald MT, Allingham RR. "Juvenile bilateral lens dislocation and glaucoma associated with a novel mutation in the fibrillin 1 gene". Mol Vis. 2006 Aug 28;12:1009-15. |