| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.15C>G | p.Cys5Trp | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | TGG | Trp | C->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| L1-THAP dom. | C2CH motif | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Ava II, BsaJ I, Sty I Lost restriction site(s): BspW I |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.71 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| POL01WAR F0001 I0001 | II.2 | Proband | Female | Familial | POLANDf |
| Phenotypic group | Disease |
| NA | Focal dystonia |
| Symptom | Severity | Age |
| Age at last examination | 50 | |
| Age of onset | neck | 47 |
| Neck | 47 |
| Reference ID | PubMed ID | Reference |
| 34 | 25168324 | Jurek M, Hoffman-Zacharska D, Koziorowski D, M?dry J, Friedman A, Bal J. Intrafamilial variability of the primary dystonia DYT6 phenotype caused by p.Cys5Trp mutation in THAP1 gene. Neurol Neurochir Pol. 2014;48(4):254-7. |