| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.289C>T | p.Gln97X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CAG | Gln | TAG | Stop | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Proline rich reg. | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| BRA02CUR F0003 I0001 | C | 3 | Proband | Male | No family history | BRAZIL |
| Phenotypic group | Disease |
| NA | Generalized dystonia |
| Symptom | Severity | Age |
| Age at last examination | 36 | |
| Age of onset | arm | 22 |
| Arm | bilateral | 36 |
| Dysarthria | 36 | |
| Jaw | 36 | |
| Leg | bilateral | 36 |
| Neck | 36 | |
| Trunk | 36 |
| Reference ID | PubMed ID | Reference |
| 39 | 24757586 | Camargo CH, Camargos ST, Raskin S, Cardoso FE, Teive HA. DYT6 in Brazil: Genetic Assessment and Clinical Characteristics of Patients. Tremor Other Hyperkinet Mov (N Y). 2014 Apr 15;4:226. |