| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.77C>G | p.Pro26Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CCT | Pro | CGT | Arg | C->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| L2-THAP dom. | DNA binding - | Yes, 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) |
|---|---|---|
| 0.79 | 0.02 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| UKD02LON F0004 I0001 | Family M | Proband | Female | Familial | U.K. |
| Phenotypic group | Disease |
| NA | Focal dystonia |
| Symptom | Severity | Age |
| Age at last examination | 56 | |
| Age of onset | face | 17 |
| Face | 17 | |
| Jaw | 17 | |
| Speech | 56 |
| Patient presenting also with variation c.72-4T>C (This mutation has probably no impact on splicing). |
| Reference ID | PubMed ID | Reference |
| 8 | 20211909 | Houlden H, Schneider SA, Paudel R, Melchers A, Schwingenschuh P, Edwards M, Hardy J, Bhatia KP. THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. Neurology. 2010 Mar 9;74(10):846-50. |