| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.570delA | p.Asp191ThrfsX9 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAA | Lys | del1c | Fs. | Stop at 199 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Coiled-Coil dom. |
| At the mRNA level | On restriction map |
| Deletion in a stretch of nucleotide | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| GER01LUB F0006 I0001 | L3641 | Proband | Female | Familial | GERMANY |
| Phenotypic group | Disease |
| NA | Focal dystonia |
| Symptom | Severity | Age |
| Age at last examination | 59 | |
| Age of onset | neck | 49 |
| Neck | 49 |
| Reference ID | PubMed ID | Reference |
| 22 | 21847143 | Lohmann K, Uflacker N, Erogullari A, Lohnau T, Winkler S, Dendorfer A, Schneider SA, Osmanovic A, Svetel M, Ferbert A, Zittel S, KŸhn AA, Schmidt A, AltenmŸller E, MŸnchau A, Kamm C, Wittstock M, Kupsch A, Moro E, Volkmann J, Kostic V, Kaiser FJ, Klein C, BrŸggemann N. Identification and functional analysis of novel THAP1 mutations. Eur J Hum Genet. 2012 Feb;20(2):171-5. |