| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.238A>G | p.Ile80Val | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ATA | Ile | GTA | Val | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| H4-THAP dom. | AVPTIF motif | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): Ssp I |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.79 | 0.60 (non pathogenous) | 53 (Probable polymorphism) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| POL02LOD F0002 I0001 | 1 | Proband | Male | Familial | POLAND |
| Phenotypic group | Disease |
| NA | Generalized dystonia |
| Symptom | Severity | Age |
| Age at last examination | 29 | |
| Age of onset | hand | 7 |
| Arm | bilateral | 29 |
| Larynx | 29 | |
| Leg | bilateral | 29 |
| Neck | 29 |
| Reference ID | PubMed ID | Reference |
| 40 | 26087139 | Golanska E, Gajos A, Sieruta M, Szybka M, Rudzinska M, Ochudlo S, Kmiec T, Liberski PP, Bogucki A. Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions. PLoS One. 2015 Jun 18;10(6):e0129656. |