| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.[3203C>G; 3204A>G] | p.Pro1068Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | CGG | Arg | T->C/C->G | Ts/Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #11 | Disulfide bonds 1055-1068 (C6) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Hpa II, Msp I, Nla IV Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| AUS02WES F0062 I01 | Proband | Female | de novo | AUSTRALIA |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom |
| C-Aortic insufficiency |
| C-Asc. aortic dilatation |
| CF-Broad nasal bridge |
| CF-Deep set eyes |
| O-Megalocornea |
| O-Trabeculodysgenesis |
| S-Abnormal ears |
| S-Arachnodactyly (M) |
| S-Joint limitations |
| SI-Loose, redundant skin |
| Reference ID | PubMed ID | Reference |
| 139 | 15264290 | Whitelaw CM, Anwar S, Ades LC, Gole GA, Elder JE, Savarirayan R. "Primary trabeculodysgenesis in association with neonatal Marfan syndrome". Am J Med Genet A. 2004 Aug 1;128(4):418-21. |