| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.23A>G | p.Tyr8Cys | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TAC | Tyr | TGC | Cys | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| L1-THAP dom. | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): BspW I Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.71 | 0.08 (non pathogenous) | 76 (Pathogenous) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| UKD02LON F0003 I0001 | Family SS | Proband | Male | Familial | FRANCE |
| Phenotypic group | Disease |
| NA | Generalized dystonia |
| Symptom | Severity | Age |
| Age at last examination | 45 | |
| Age of onset | foot | 10 |
| Incomplete clinical description | ||
| Leg | 45 |
| Incomplete clinical description. |
| 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. |