| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.89C>A | p.Pro30His | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CCC | Pro | CAC | His | C->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| L2-THAP dom. | 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 | 0.01 (pathogenous) | 88 (Pathogenous) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| JAP01TOK F0003 I0001 | 3 | Proband | Male | Familial | JAPAN |
| Phenotypic group | Disease |
| NA | Segmental dystonia |
| Symptom | Severity | Age |
| Age at last examination | 51 | |
| Age of onset | hand | 12 |
| Hand | 12 | |
| Neck | 42 |
| 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. |