| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.208A>G | p.Lys70Glu | 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 |
| L4-THAP dom. | Yes, non 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) |
|---|---|---|
| 0.79 | 0.03 (pathogenous) | 51 (Probable polymorphism) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| GRE01LAR F0001 I0001 | Proband | Female | No family history | GREECE |
| Phenotypic group | Disease |
| NA | Blepharospasm |
| Symptom | Severity | Age |
| Age at last examination | 64 | |
| Age of onset | eyes | 55 |
| blepharospasm | 55 |
| Reference ID | PubMed ID | Reference |
| 32 | 22903657 | Xiromerisiou G, Houlden H, Scarmeas N, Stamelou M, Kara E, Hardy J, Lees AJ, Korlipara P, Limousin P, Paudel R, Hadjigeorgiou GM, Bhatia KP. THAP1 mutations and dystonia phenotypes: genotype phenotype correlations. Mov Disord. 2012 Sep 1;27(10):1290-4. |