| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1948C>T | p.Arg650Cys | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGT | Arg | TGT | Cys | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #06 | Yes, coding strand | Yes |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): Hae III |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 94 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA03STA F0089 I0001 | Proband | Female | de novo | 5 | U.S.A. |
| Phenotypic group | Disease |
| NA | NA |
| Symptom | Severity | Age |
| C-Asc. aortic dilatation | 26 | |
| O-Ectopia lentis | bilateral | 5 |
| S-Joint hypermobility (m) | mild | 26 |
| Reference ID | PubMed ID | Reference |
| 228 | 21932315 | Zadeh N, Bernstein JA, Niemi AK, Dugan S, Kwan A, Liang D, Hyland JC, Hoyme HE, Hudgins L, Manning MA. "Ectopia lentis as the presenting and primary feature in Marfan syndrome". Am J Med Genet A. 2011 Nov;155A(11):2661-8. |