| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.427A>G | p.Met143Val | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ATG | Met | GTG | Val | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Coiled-Coil dom. | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): ApaL I, Bsp1286 I, HgiA I Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.93 | 1.00 (non pathogenous) | 35 (Polymorphism) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| GER02TUE F0005 I0001 | case 5 | Proband | Female | No family history | GERMANY |
| Phenotypic group | Disease |
| NA | Focal dystonia |
| Symptom | Severity | Age |
| Age at last examination | ||
| Age of onset | neck | 46 |
| Neck | 46 |
| 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. |