| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2722T>C | p.Cys908Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | CGT | Arg | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Hybrid motif #02 | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Mae II Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 0.25 (non pathogenous) | 82 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER07COL F0003 I0001 | Proband | Female | NA | SAUDI ARABIA |
| Phenotypic group | Disease |
| NA | Lens subluxation |
| Symptom | Age |
| S-Scoliosis > 20° (M)(1) | 6 |
| 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. |