| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.236delC | p.Thr79LysfsX41 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ACA | Thr | del1b | Fs. | Stop at 119 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| H4-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 |
| UKD02LON F0007 I0001 | - | Family LH | Proband | Female | Familial | U.K. |
| Phenotypic group | Disease |
| NA | Segmental dystonia |
| Symptom | Severity | Age |
| Age at last examination | 29 | |
| Age of onset | arm | 10 |
| Arm | bilateral | 10 |
| Neck | 29 | |
| Speech | 29 |
| 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. |