| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.449A>C | p.His150Pro | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CAT | His | CCT | Pro | A->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| NLS | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Dde I Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.93 | 0.24 (non pathogenous) | 76 (Pathogenous) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| CHI01PEK F0002 I0001 | I-4986 | Proband | Male | No family history | CHINA |
| Phenotypic group | Disease |
| NA | Multifocal dystonia |
| Symptom | Severity | Age |
| Age at last examination | 42 | |
| Age of onset | larynx | 22 |
| Larynx | 22 | |
| Neck | 42 |
| RNA expression level: 1.04 +/- 0.16 (ref Cheng et al. J Neurol 2011) |
| Reference ID | PubMed ID | Reference |
| 13 | 20825472 | Cheng FB, Wan XH, Feng JC, Wang L, Yang YM, Cui LY. Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China. Eur J Neurol. 2011 Mar;18(3):497-503. |