| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2495G>A | p.Cys832Tyr | 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 #09 | Disulfide bonds 832-845 (C5) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Ssp I 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 |
| USA03STA F0019 I20 | Proband | NA | NA | ? (31 years old) | U.S.A |
| Phenotypic group | Disease |
| Type II | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| O-Ectopia lentis | bilateral |
| O-Myopia >3 diopters (1) | severe |
| S-Arachnodactyly (M) | |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 54 | 10464652 | Liu WO, Oefner PJ, Qian C, Odom RS, Francke U. "Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders". Genet Test 1997-98;1(4):237-42. |