| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.85C>T | p.Arg29X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGA | Arg | TGA | Stop | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| L2-THAP dom. | DNA binding - | Yes, coding strand | Yes |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): Taq I |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| SER01BEL F0002 I0001 | patient 3 | Proband | Male | No family history | SERBIA |
| Phenotypic group | Disease |
| Reduced nuclear import | Segmental dystonia |
| Symptom | Severity | Age |
| Age at last examination | 40 | |
| Age of onset | larynx | 36 |
| Larynx | moderate | 36 |
| Neck | moderate | 40 |
| Reduced nuclear import demonstrated in ref 33. |
| 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. |