| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6458G>A | p.Cys2153Tyr | 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 #32 | Disulfide bonds 2153-2164 (C5) | 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) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UKD05LON F0004 I08 | Proband | Male | NA | 25 years old | U.K. |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Asc. aortic dissection |
| C-Desc. aortic dissection (thor. or abdo.) |
| O-Ectopia lentis |
| O-Myopia |
| S-Arachnodactyly (M) |
| S-Chest deformity (unspecified) |
| S-High arched palate |
| S-Joint hypermobility (m) |
| S-Plain pes planus (M)(1) |
| S-Reduced US/LS ratio <0.87 (M) |
| SI-Significant striae atrophicae (m)(1) |
| SI-Skin hyperextensibility |
| Reference ID | PubMed ID | Reference |
| 83 | 11748851 | Comeglio P, Evans AL, Brice GW and Child AH. "Detection of six novel FBN1 mutations in british patients affected by Marfan syndrome". Human Mutation, 2001, 18(6): 546-7. |