| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3599A>G | p.Glu1200Gly | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAA | Glu | GGA | Gly | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #15 | Ca2+ binding | Yes, non coding strand | 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 |
| FIN01HEL F0016 I01 | Proband | Female | de novo | ? (9 years old) | FINLAND |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Mitral valve prolapse |
| O-Ectopia lentis |
| O-Iridodonesis |
| O-Myopia |
| S-Dolichostenomelia |
| S-High arched palate |
| S-Joint hypermobility (m) |
| S-Long bone over growth |
| Reference ID | PubMed ID | Reference |
| 43 | 10090884 | Rantamaki T, Kaitila I, Syvanen AC, Lukka M, Peltonen L. "Recurrence of Marfan Syndrome as a Result of Parental Germ-Line Mosaicism for an FBN1 Mutation". Am J Hum Genet 1999 Apr;64(4):993-1001 . |