| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7C>T | p.Gln3X | 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 |
| L1-THAP dom. | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Rma I Lost restriction site(s): Nla IV |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| UKD02LON F0001 I0001 | - | Family F | Proband | Female | No family history | U.K. |
| Phenotypic group | Disease |
| NA | Generalized dystonia |
| Symptom | Severity | Age |
| Age at last examination | 37 | |
| Age of onset | larynx | 8 |
| Incomplete clinical description | ||
| Larynx | 8 | |
| Speech | 37 |
| Incomplete clinical description |
| Reference ID | PubMed ID | Reference |
| 8 | 20211909 | Houlden H, Schneider SA, Paudel R, Melchers A, Schwingenschuh P, Edwards M, Hardy J, Bhatia KP. THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. Neurology. 2010 Mar 9;74(10):846-50. |