| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3419G>T | p.Cys1140Phe | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | TTC | Phe | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #13 | Disulfide bonds 1140-1153 (C5) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): EcoR I Lost restriction site(s): BspW I |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.67 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| BEL01GHE F0135 I01 | Proband | NA | NA | BELGIUM |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom |
| Reference ID | Reference |
| 122 | Unpublished data |