| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.8010C>G | p.Tyr2670X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TAC | Tyr | TAG | Stop | C->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #43 | Ca2+ binding | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Alu I Lost restriction site(s): BstE II, Mae III |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER07COL F0006 I0001 | Proband | Female | NA | SAUDI ARABIA |
| Phenotypic group | Disease |
| NA | Lens subluxation |
| Symptom | Age |
| S-Clinodactyly | 4 |
| 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. |