| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2473C>T | p.Pro825Ser | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CCA | Pro | TCA | Ser | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #09 | Ca2+ binding | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Alu I Lost restriction site(s): BsaJ I |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.67 | 0.26 (non pathogenous) | 82 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UKD05LON F0198 I0001 | Proband | NA | de novo | U.K. |
| Phenotypic group | Disease |
| NA | Dominant ectopia lentis |
| Symptom |
| no clinical data |
| Reference ID | PubMed ID | Reference |
| 238 | 22736615 | Chandra A, Aragon-Martin JA, Hughes K, Gati S, Reddy MA, Deshpande C, Cormack G, Child AH, Charteris DG, Arno G. "A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis". Invest Ophthalmol Vis Sci. 2012 Jul 24;53(8):4889-96. |