| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3963A>G | p.Thr1321Thr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ACA | Thr | ACG | Thr | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #17 | Ca2+ binding | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| Skipping of exon 31, in frame | New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 1.00 (non pathogenous) | 23 (Polymorphism) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UKD05LON F0022 I01 | Proband | Male | NA | (65 years old) | U.K. |
| Phenotypic group | Disease |
| NA | Dominant ectopia lentis |
| Symptom |
| O-Ectopia lentis |
| O-Glaucoma |
| S-Arm span/height >1.05 (M) |
| S-High arched palate |
| S-Scoliosis > 20° (M)(1) |
| SI-Inguinal hernia |
| SI-Significant striae atrophicae (m)(1) |
| Reference ID | PubMed ID | Reference |
| 108 | 12446365 | Comeglio P, Evans AL, Brice G, Cooling RJ, Child AH. "Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus". Br J Ophthalmol. 2002 Dec;86(12):1359-62. |