| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.539T>C | p.Leu180Ser | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TTA | Leu | TCA | Ser | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Coiled-Coil dom. | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): Mse I |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.93 | 0.03 (pathogenous) | 81 (Pathogenous) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| CHI01PEK F0008 I0001 | Proband | Male | Familial | CHINA |
| Phenotypic group | Disease |
| NA | Segmental dystonia |
| Symptom | Severity | Age |
| Age at last examination | 49 | |
| Age of onset | neck | 23 |
| Arm | bilateral | 49 |
| Neck | 49 | |
| Speech | 49 |
| This patient habors also a c.581A>T (p.Asp194Val) mutation in the TOR1A gene. |
| Reference ID | PubMed ID | Reference |
| 41 | 24862462 | Cheng FB, Feng JC, Ma LY, Miao J, Ott T, Wan XH, Grundmann K. Combined occurrence of a novel TOR1A and a THAP1 mutation in primary dystonia. Mov Disord. 2014 Jul;29(8):1079-83. |