| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1601G>A | p.Cys534Tyr | 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 #04 | Disulfide bonds 534-546 (C1) | 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 |
| USA09FAR F0001 I01 | Proband | Male | de novo | U.S.A |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | surgery |
| O-Ectopia lentis | bilateral |
| S-Arachnodactyly (M) | |
| S-Chest deformity (unspecified) | |
| S-Dolichostenomelia | |
| S-High arched palate | |
| S-Plain pes planus (M)(1) | |
| S-Reduced US/LS ratio <0.87 (M) |
| Reference ID | PubMed ID | Reference |
| 69 | 10364683 | Kilpatrick MW, Lembessis P, Rose E, Tsipouras P. "A novel G to A substitution at nucleotide 1734 of the FBN1 gene predicting a C534Y mutation responsible for marfan syndrome". Hum Hered 1999 Jun;49(3):176-7. |