| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3706T>C | p.Cys1236Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | CGC | Arg | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #15 | Disulfide bonds 1223-1236 (C6) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): Nla III |
| 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 |
| NET01AMS F0007 I01 | Proband | Male | de novo | 2 months | NETHERLAND |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom | Severity | Age |
| C-Asc. aortic dilatation | 2 | |
| C-Mitral regurgitation | surgery | 0,25 |
| O-Ectopia lentis | 2 | |
| O-Iridodonesis | 2 | |
| O-Megalocornea | 2 | |
| O-Myopia | 2 | |
| S-Arachnodactyly (M) | ||
| S-Joint limitations | ||
| S-Pectus carinatum (M)(2) | 2 | |
| S-Plain pes planus (M)(1) | 2 | |
| SI-Inguinal hernia | 0,25 | |
| SI-Loose, redundant skin |
| Reference ID | PubMed ID | Reference |
| 126 | 15770129 | ter Heide H, Schrander-Stumpel CT, Pals G, Delhaas T. "Neonatal Marfan syndrome: clinical report and review of the literature". Clin Dysmorphol. 2005 Apr;14(2):81-4. |