| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.530T>C | p.Leu177Pro | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CTT | Leu | CCT | Pro | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Coiled-Coil dom. | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): Alu I |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.93 | 0.01 (pathogenous) | 70 (Probably pathogenous) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| AUS01BRI F0001 I0001 | proband | Proband | Male | Familial | AUSTRALIA |
| Phenotypic group | Disease |
| NA | Asymptomatic |
| Symptom |
| Asymptomatic |
| Reference ID | PubMed ID | Reference |
| 36 | 23649788 | Newman JR, Lehn AC, Boyle RS, Silburn PA, Mellick GD. Screening for rare sequence variants in the THAP1 gene in a primary dystonia cohort. Mov Disord. 2013 Oct;28(12):1752-3. |