| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3509G>A | p.Arg1170His | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGT | Arg | CAT | His | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #14 | No | Yes |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Hae I, Msc I Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.67 | 0.36 (non pathogenous) | 47 (Polymorphism) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA01BAL F0031 I01 | Proband | Female | familial | ? (46 years old) | U.S.A |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom |
| C-Mitral valve prolapse |
| O-Myopia |
| S-Arachnodactyly (M) |
| S-Dolichostenomelia |
| S-Joint hypermobility (m) |
| S-Kyphosis |
| S-Plain pes planus (M)(1) |
| S-Scoliosis > 20° (M)(1) |
| SI-Significant striae atrophicae (m)(1) |
| Reference ID | PubMed ID | Reference |
| 60 | 9837823 | Montgomery RA, Geraghty MT, Bull E, Gelb BD, Johnson M, McIntosh I, Francomano CA, Dietz HC. "Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome". Am J Hum Genet 1998 Dec;63(6):1703-11 . |