| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.496G>A | p.Ala166Thr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GCA | Ala | ACA | Thr | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Coiled-Coil dom. | THAP1 dimerization | No | Yes |
| At the mRNA level | On restriction map |
| No mechanism suspected | New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.93 | 0.42 (non pathogenous) | 82 (Pathogenous) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| SER01BEL F0005 I0001 | patient 5 | Proband | Male | No family history | SERBIA |
| Phenotypic group | Disease |
| NA | Multifocal dystonia |
| Symptom | Severity | Age |
| Age at last examination | 24 | |
| Age of onset | arm | 7 |
| Arm | moderate | 7 |
| Reference ID | PubMed ID | Reference |
| 23 | 23180184 | Dobricic V., Kresojevic N., Svetel M., Jankovic M., Petrovic I., Tomic AD., Novakovic I., Kostic V.S. Mutation screening of the DYT6/THAP1 gene in Serbian dystonia patients with primary dystonia. J Neurol 2013 Apr;260(4):1037-42. |