| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.17C>T | p.Ser6Phe | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TCC | Ser | TTC | Phe | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| L1-THAP dom. | 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) |
|---|---|---|
| 0.71 | 0.06 (non pathogenous) | 82 (Pathogenous) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| UKD02LON F0002 I0001 | - | Family E | Proband | Female | Familial | GERMANY |
| Phenotypic group | Disease |
| NA | Generalized dystonia |
| Symptom | Severity | Age |
| Age at last examination | 50 | |
| Age of onset | hand | 20 |
| Arm | 50 | |
| Incomplete clinical description | ||
| Neck |
| 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. |