| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.339T>C | p.Asp113Asp | Heterozygous | Polymorphism |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | GAC | Asp | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| No | No |
| At the mRNA level | On restriction map |
| RNA expression not affected | New restriction site(s): Hinc II Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.93 | 0.93 (non pathogenous) | 18 (Polymorphism) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| CHI01PEK F0007 I0001 | Proband | Female | No family history | CHINA |
| Phenotypic group | Disease |
| NA | Segmental dystonia |
| Symptom | Severity | Age |
| Age at last examination | 17 | |
| Age of onset | neck | 17 |
| Neck | 17 | |
| Trunk | 17 |
| Alteration of an exonic ESE site but no alteration of splicing. Asymptomatic mother with the same variation. |
| Reference ID | PubMed ID | Reference |
| 20 | 21800139 | Cheng FB, Ozelius LJ, Wan XH, Feng JC, Ma LY, Yang YM, Wang L. THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression. J Neurol. 2012 Feb;259(2):342-7. |