| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.68A>C | p.His23Pro | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CAC | His | CCC | Pro | A->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| BS1-THAP dom. | No | 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) |
|---|---|---|
| 0.5 | 0.00 (pathogenous) | 88 (Pathogenous) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| GER01LUB F0005 I0001 | L4155 | Proband | Male | Familial | GERMANY |
| Phenotypic group | Disease |
| NA | Segmental dystonia |
| Symptom | Severity | Age |
| Age at last examination | 33 | |
| Age of onset | arm | 9 |
| Arm | 9 | |
| Deep Brain Stimulation | 33 |
| Mutation abolishs binding of THAP1 to TOR1A Same patient published in Lohmann et al. Eur J Hum Genet 2011 |
| Reference ID | PubMed ID | Reference |
| 19 | 20976771 | Kaiser FJ, Osmanoric A, Rakovic A, Erogullari A, Uflacker N, Braunholz D, Lohnau T, Orolicki S, Albrecht M, Gillessen-Kaesbach G, Klein C, Lohmann K. The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6). Ann Neurol. 2010 Oct;68(4):554-9. |