| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.5453G>A | p.Cys1818Tyr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | TAC | Tyr | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #26 | Disulfide bonds 1818-1833 (C2) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Csp6 I, Rsa I Lost restriction site(s): BspW I |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 1 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| BRA01SPA F0006 I01 | Proband | Female | de novo | ? (10 years old) | BRAZIL |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom |
| C-Asc. aortic dilatation |
| S-Arachnodactyly (M) |
| S-Arm span/height >1.05 (M) |
| S-Chest deformity (unspecified) |
| S-Dolichostenomelia |
| S-Foot deformity |
| S-High arched palate |
| S-Joint dislocation |
| S-Joint hypermobility (m) |
| S-Long bone over growth |
| S-Plain pes planus (M)(1) |
| S-Scoliosis > 20° (M)(1) |
| SI-Significant striae atrophicae (m)(1) |
| Reference ID | PubMed ID | Reference |
| 39 | 10189222 | Perez AB, Pereira LV, Brunoni D, Zatz M, Passos-Bueno MR. "Identification of 8 new mutations in Brazilian families with Marfan syndrome". Mutations in brief no. 211. Online. Hum Mutat 1999;13(1):84 . |