| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2248T>G | p.Cys750Gly | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | GGC | Gly | T->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #07 | Disulfide bonds 750-763 (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) |
|---|---|---|
| 0.67 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UKD01EDI F0002 I39 | Proband | Female | familial | ? (22 years old) | U.K. |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| C-Mitral regurgitation | |
| O-Ectopia lentis | |
| O-Myopia | |
| O-Retinal detachment | surgery |
| S-Arachnodactyly (M) | |
| S-Arm span/height >1.05 (M) | |
| S-Chest deformity (unspecified) | |
| S-Dolichostenomelia | |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 7 | 8004112 | Hayward C, Rae AL, Porteous ME, Logie LJ, Brock DJ. "Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients". Hum Mol Genet 1994 Feb;3(2):373-5 . |