| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7339G>A | p.Glu2447Lys | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAG | Glu | AAG | Lys | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #38 | Ca2+ binding | Yes, non coding strand | Yes |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.67 | 0.00 (pathogenous) | 71 (Probably pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FIN01HEL F0012 I01 | Proband | Male | familial | ? (27 years old) | FINLAND |
| Phenotypic group | Disease |
| NA | Dominant ectopia lentis |
| Symptom |
| O-Ectopia lentis |
| O-Myopia |
| O-Peripheral iris atrophy |
| O-Retinal degeneration |
| S-Arm span/height >1.05 (M) |
| S-Increased body length |
| S-Joint hypermobility (m) |
| S-Reduced US/LS ratio <0.87 (M) |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 13 | 8188302 | Lonnqvist L, Child A, Kainulainen K, Davidson R, Puhakka L, Peltonen L. "A novel mutation of the fibrillin gene causing ectopia lentis". Genomics 1994 Feb;19(3):573-6 . |