| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1760G>A | p.Cys587Tyr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | TAT | Tyr | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #05 | Disulfide bonds 576-587 (C3) | No | No |
| 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) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER01BER F0001 I03 | Proband | Female | de novo | at 12 years old | GERMANY |
| Phenotypic group | Disease |
| NA | Dominant ectopia lentis |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| C-Mitral valve prolapse | mild |
| O-Ectopia lentis | bilateral |
| O-Myopia | |
| S-Arachnodactyly (M) | |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 31 | 9254848 | Booms P, Withers AP, Boxer M, Kaufmann UC, Hagemeier C, Vetter U, Robinson PN. "A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype". Hum Genet 1997 Aug;100(2):195-200 . |