| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.230_231insA | p.Pro78AlafsX8 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GTG | Val | ins1c | Fs. | Stop at 85 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| L4-THAP dom. | AVPTIF motif |
| 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 |
| TAI01TAO F0001 I0001 | case 1 | Proband | Male | Familial | TAIWAN |
| Phenotypic group | Disease |
| NA | Generalized dystonia |
| Symptom | Severity | Age |
| Age at last examination | 24 | |
| Age of onset | hand | 8 |
| Arm | hand tremor | 24 |
| Dysarthria | 24 | |
| Jaw | severe | 24 |
| Larynx | 24 | |
| Neck | jerky | 24 |
| Speech | 24 | |
| Trunk | moderate | 24 |
| Reference ID | Reference |
| 24 | Unpublished data |