| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3410G>C | p.Arg1137Pro | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGC | Arg | CCC | Pro | G->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #13 | Ca2+ binding | 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 | 0.06 (non pathogenous) | 94 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA01BAL F0001 I01 | Proband | NA | de novo | 17 years old | U.S.A |
| Phenotypic group | Disease |
| Type IV | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dissection | surgery |
| C-Congestive heart failure | |
| C-Desc. aortic dissection (thor. or abdo.) | surgery |
| C-Mitral regurgitation | surgery |
| C-Mitral valve prolapse | |
| O-Ectopia lentis | |
| O-Myopia >3 diopters (1) | severe |
| S-Arachnodactyly (M) | |
| S-Dolichostenomelia | |
| S-Increased body length | |
| S-Joint hypermobility (m) | |
| S-Muscular hypotonia | |
| S-Pectus excavatum moderate (m)(1) | |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 1 | 1852208 | Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar EJ, Curristin SM, et al. "Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene". Nature 1991 Jul 25;352 (6333):337-9 . |