| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.476T>A | p.Leu159His | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CTC | Leu | CAC | His | T->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| NLS | THAP1 dimerization | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): Dde I |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.86 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| CHI02CHE F0003 I0001 | Proband | Female | Unknown | CHINA |
| Phenotypic group | Disease |
| NA | Segmental dystonia |
| Symptom | Severity | Age |
| Age at last examination | 54 | |
| Age of onset | face | 52 |
| Face | 54 | |
| Larynx | 54 | |
| Tongue | 54 |
| Reference ID | Reference |
| 26 | Unpublished data |