| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.693C>A | p.Cys231X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | TGA | Stop | C->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Hybrid module#01 | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Aha II Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER07COL F0001 I0001 | Proband | Female | NA | SAUDI ARABIA |
| Phenotypic group | Disease |
| NA | Lens subluxation |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 281 | 24698609 | Khan AO, Bolz HJ, Bergmann C. "Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation". J AAPOS. 2014 Apr;18(2):134-9. |