| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.506G>A | p.Arg169Gln | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGA | Arg | CAA | Gln | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Coiled-Coil dom. | Yes, non coding strand | Yes |
| 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) |
|---|---|---|
| 0.86 | 0.18 (non pathogenous) | 47 (Polymorphism) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| BRA02CUR F0001 I0002 | III.2 | 3 | Relative | Female | Familial | BRAZIL |
| Phenotypic group | Disease |
| NA | Generalized dystonia |
| Symptom | Severity | Age |
| Age at last examination | 16 | |
| Age of onset | arm | 6 |
| Arm | bilateral | 16 |
| Dysarthria | 16 | |
| Jaw | 16 | |
| Larynx | 16 | |
| Leg | bilateral | 16 |
| Neck | 16 | |
| Speech | 16 | |
| Trunk | 16 |
| Double mutant: patient presented also a p.Arg169Gln mutation. |
| Reference ID | PubMed ID | Reference |
| 39 | 24757586 | Camargo CH, Camargos ST, Raskin S, Cardoso FE, Teive HA. DYT6 in Brazil: Genetic Assessment and Clinical Characteristics of Patients. Tremor Other Hyperkinet Mov (N Y). 2014 Apr 15;4:226. |