| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.5504G>A | p.Cys1835Tyr | 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 #26 | Disulfide bonds 1835-1847 (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) |
|---|---|---|
| 1 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UKD04OXF F0006 I06 | Proband | NA | de novo | ? (31 years old) | U.K. |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | moderate |
| O-Ectopia lentis | |
| S-Arm span/height >1.05 (M) | |
| S-Characteristic facial appearance | |
| S-High arched palate | |
| SI-Significant striae atrophicae (m)(1) |
| Reference ID | PubMed ID | Reference |
| 58 | 10647894 | Halliday D, Hutchinson S, Kettle S, Firth H, Wordsworth P, Handford PA. "Molecular analysis of eight mutations in FBN1". Hum Genet 1999 Dec;105(6):587-97. |