| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7409G>A | p.Cys2470Tyr | 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 #38 | Disulfide bonds 2470-2483 (C5) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): Bgl I, Nla III |
| 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 |
| CAN02VAN F0001 I0005 | Relative | Male | familial | CANADA |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| CF-Dolichocephaly | |
| CF-Down-slanting palpebral fissures | |
| S-Abnormal ears | |
| S-Arm span/height >1.05 (M) | |
| S-Characteristic facial appearance | |
| S-High arched palate | |
| S-Joint hypermobility (m) | |
| S-Joint limitations | toes |
| S-Pectus excavatum moderate (m)(1) | |
| S-Plain pes planus (M)(1) |
| Reference ID | PubMed ID | Reference |
| 254 | 23653584 | Potter KJ, Creighton S, Armstrong L, Eydoux P, Duncan W, Penny DJ, Fan Y, Gibson WT. "The c.7409G>A (p.Cys2470Tyr) Variant of FBN1: Phenotypic Variability across Three Generations". Mol Syndromol. 2013 Mar;4(3):125-35. |