| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.173T>C | p.Phe58Ser | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TTT | Phe | TCT | Ser | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| THAP dom. | DNA binding - | Yes, coding strand | No |
| 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) |
|---|---|---|
| 0.79 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| JAP01TOK F0004 I0001 | 4 | Proband | Female | No family history | JAPAN |
| Phenotypic group | Disease |
| NA | Generalized dystonia |
| Symptom | Severity | Age |
| Age at last examination | ||
| Age of onset | 8 | |
| Hand | bilateral | 8 |
| Incomplete clinical description |
| 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. |