| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.413delC | p.Thr138MetfsX15 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ACT | Thr | del1b | Fs. | Stop at 152 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| At the mRNA level | On restriction map |
| No mechanism suspected | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| JAP01TOK F0002 I0001 | 2 | Proband | Female | Familial | JAPAN |
| Phenotypic group | Disease |
| NA | Generalized dystonia |
| Symptom | Severity | Age |
| Age at last examination | 61 | |
| Age of onset | hand | 9 |
| Arm | 9 | |
| Leg | bilateral | 39 |
| Neck | 39 | |
| Trunk | 39 |
| Reference ID | PubMed ID | Reference |
| 38 | 24227593 | Miyamoto R, Koizumi H, Morino H, Kawarai T, Maruyama H, Mukai Y, Miyashiro A, Sako W, Izumi Y, Kawakami H, Kaji R. DYT6 in Japan-genetic screening and clinical characteristics of the patients. Mov Disord. 2014 Feb;29(2):278-80. |