| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.150T>G | p.Tyr50X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TAT | Tyr | TAG | Stop | T->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| L3-THAP dom. | DNA binding - | 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 |
| UKD02LON F0005 I0001 | - | Family G | Proband | Female | No family history | JEWISH |
| Phenotypic group | Disease |
| NA | Segmental dystonia |
| Symptom | Severity | Age |
| Age at last examination | 86 | |
| Age of onset | arm+head | 16 |
| Arm | 16 | |
| Neck | 16 | |
| Speech | 86 |
| 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. |