| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3143T>C | p.Ile1048Thr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ATT | Ile | ACT | Thr | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #11 | Ca2+ binding | Yes, coding strand | 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) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| NET02UTR F0001 I01 | Proband | Female | de novo | at birth | 3 months | NETHERLAND |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Mitral regurgitation |
| C-Mitral valve prolapse |
| C-Pulmonary art. dilatation |
| C-Tricuspid valve prolapse |
| CF-Dolichocephaly |
| L-Spontaneous pneumothorax |
| O-Not examined |
| S-Arachnodactyly (M) |
| S-Characteristic facial appearance |
| S-Crumpled ears |
| S-Increased body length |
| S-Joint limitations |
| SI-Loose, redundant skin |
| Reference ID | PubMed ID | Reference |
| 65 | 10090557 | Bresters D, Nikkels PG, Meijboom EJ, Hoorntje TM, Pals G, Beemer FA. "Clinical, pathological and molecular genetic findings in a case of neonatal Marfan syndrome". Acta Paediatr 1999 Jan;88(1):98-101. |