| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.247T>C | p.Cys83Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | CGT | Arg | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| 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) |
|---|---|---|
| 0.86 | 0.35 (non pathogenous) | 82 (Pathogenous) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| GER02TUE F0007 I0001 | case 7 | - | Proband | Female | No family history | GERMANY |
| Phenotypic group | Disease |
| NA | Focal dystonia |
| Symptom | Severity | Age |
| Age at last examination | ||
| Age of onset | neck | 34 |
| Neck | 34 |
| 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. |