| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.70A>G | p.Lys24Glu | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAG | Lys | GAG | Glu | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| BS1-THAP dom. | DNA binding - | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| Not tested on cDNA (needed) | New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.79 | 0.15 (non pathogenous) | 65 (Probably pathogenous) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| GER01LUB F0007 I0001 | L3841 | Proband | Female | No family history | GERMANY |
| Phenotypic group | Disease |
| NA | Generalized dystonia |
| Symptom | Severity | Age |
| Age at last examination | 32 | |
| Age of onset | neck | 8 |
| Deep Brain Stimulation | 32 | |
| Leg | 32 | |
| Neck | 8 | |
| Speech | 32 |
| Variation localized at the penultimate base of the exon. Potential alteration of donor splice site. Measurement of the repression of the TOR1A promoter in a luceferase reporter gene assays shows a lower THAP1 activity of 60%. |
| 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. |