| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.169C>A | p.His57Asn | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CAC | His | AAC | Asn | C->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| H2-THAP dom. | C2CH motif | 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) |
|---|---|---|
| 0.79 | 0.05 (non pathogenous) | 59 (Probable polymorphism) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| GER02TUE F0001 I0001 | Case 1 | - | Proband | Female | No family history | GERMANY |
| Phenotypic group | Disease |
| NA | Generalized dystonia |
| Symptom | Severity |
| Age at last examination | |
| Age of onset | leg |
| Dysarthria | mild |
| Incomplete clinical description | |
| Speech | mild |
| Reference ID | PubMed ID | Reference |
| 12 | 20669277 | S*hn AS, Gl*ckle N, Doetzer AD, Deuschl G, Felbor U, Topka HR, Sch*ls L, Riess O, Bauer P, MŸller U, Grundmann K. Prevalence of THAP1 sequence variants in German patients with primary dystonia. Mov Disord. 2010 Sep 15;25(12):1982-6. |