| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.109_132dup | p.Glu37_Asn44dup | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TTT | Phe | ins24a | InF | In frame ins | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| L3-THAP dom. | DNA binding - |
| At the mRNA level | On restriction map |
| No mechanism suspected | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| SER01BEL F0003 I0001 | patient 4 | Proband | Female | Familial | SERBIA |
| Phenotypic group | Disease |
| NA | Generalized dystonia |
| Symptom | Severity | Age |
| Age at last examination | 38 | |
| Age of onset | neck | 12 |
| Arm | mild | 38 |
| Dysarthria | mild | 38 |
| Jaw | mild | 38 |
| Larynx | severe | 38 |
| Leg | mild | 38 |
| Neck | Severe | 38 |
| Speech | 38 | |
| Trunk | moderate | 38 |
| 2 asymptomatic carriers in the family |
| 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. |