| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.521A>G | p.Glu174Gly | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAA | Glu | GGA | Gly | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Coiled-Coil dom. | Yes, non coding strand | 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) |
|---|---|---|
| 1 | 0.29 (non pathogenous) | 76 (Pathogenous) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| CHI02CHE F0002 I0001 | Proband | Female | No family history | CHINA |
| Phenotypic group | Disease |
| NA | Segmental dystonia |
| Symptom | Severity | Age |
| Age at last examination | 22 | |
| Age of onset | neck | 19 |
| Neck | 19 | |
| Trunk | 22 |
| Reference ID | PubMed ID | Reference |
| 21 | 21839475 | Song W, Chen Y, Huang R, Chen K, Pan P, Yang Y, Shang HF. Novel THAP1 gene mutations in patients with primary dystonia from Southwest China. J Neurol Sci. 2011 Oct 15;309(1-2):63-7. |