| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.63_66delTTTC | p.Phe22ThrfsX50 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TCT | Ser | del4c | Fs. | Stop at 71 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| L1-THAP dom. |
| At the mRNA level | On restriction map |
| Deletion of a repeated sequence | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| CHI01PEK F0003 F0002 | mother of case 1 | Relative | Female | Familial | CHINA |
| Phenotypic group | Disease |
| NA | Segmental dystonia |
| Symptom | Severity | Age |
| Age at last examination | 46 | |
| Age of onset | neck | 25 |
| Dysarthria | 46 | |
| Neck | 25 |
| Fu Bo Cheng (personal communication, 08/08/2011) |
| Reference ID | PubMed ID | Reference |
| 20 | 21800139 | Cheng FB, Ozelius LJ, Wan XH, Feng JC, Ma LY, Yang YM, Wang L. THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression. J Neurol. 2012 Feb;259(2):342-7. |