| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.161G>T | p.Cys54Phe | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | TTT | Phe | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| BS2-THAP dom. | C2CH motif | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.79 | 0.03 (pathogenous) | 98 (Pathogenous) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| CHI01PEK F0004 I0001 | case 2 | Proband | Female | Familial | CHINA |
| Phenotypic group | Disease |
| NA | Segmental dystonia |
| Symptom | Severity | Age |
| Age at last examination | 25 | |
| Age of onset | neck | 20 |
| Face | blepharospasm | 25 |
| Neck | 20 | |
| Trunk | 25 |
| RNA expression level: 0.97 +/- 0.12 |
| 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. |