| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.5959G>C | p.Gly1987Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGT | Gly | CGT | Arg | G->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #30 | conserved AA in cbEGF-like | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): BsaA I, Mae II Lost restriction site(s): Asp718, BstK I, Dsa V, Kpn I, Nla IV, ScrF I |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.5 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UKD05LON F0003 I14 | Proband | Male | familial | 31 years old | U.K. |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Aortic insufficiency |
| C-Asc. aortic dilatation |
| C-Mitral regurgitation |
| C-Mitral valve prolapse |
| CF-Down-slanting palpebral fissures |
| O-Myopia |
| S-Abnormal ears |
| S-Arachnodactyly (M) |
| S-Arm span/height >1.05 (M) |
| S-Characteristic facial appearance |
| S-Foot deformity |
| S-High arched palate |
| S-Joint hypermobility (m) |
| S-Scoliosis > 20° (M)(1) |
| SI-Bleeding tendency |
| 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. |