| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.5983T>C | p.Ser1995Pro | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TCC | Ser | CCC | Pro | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #30 | Ca2+ binding | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Apa I, Ban II, Bsp120 I, Bsp1286 I, Hae III Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.5 | 0.10 (non pathogenous) | 82 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| BEL01GHE F0132 I01 | Proband | NA | NA | BELGIUM |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| Reference ID | Reference |
| 122 | Unpublished data |