| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.161G>A | p.Cys54Tyr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | TAT | Tyr | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| BS2-THAP dom. | C2CH motif | No | 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) | 99 (Pathogenous) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| USA01NYO F0014 I0001 | Proband | Male | Unknown | U.S.A. |
| Phenotypic group | Disease |
| NA | Generalized dystonia |
| Symptom | Severity | Age |
| Age at last examination | 23 | |
| Age of onset | hand | 6 |
| Foot | 23 | |
| Hand | 6 | |
| Jaw | 23 | |
| Neck | 23 | |
| Speech | 23 | |
| Trunk | 23 |
| Mutation abolishs binding of THAP1 to TOR1A, see Gavarini et al. Annals of Neurology, 2010. Patient described in Panov et al. J Neurol Neurosurg Psychiatry. 2011 Sep 23. |
| Reference ID | PubMed ID | Reference |
| 18 | 20865765 | Gavarini S, Cayrol C, Fuchs T, Lyons N, Ehrlich ME, Girard JP, Ozelius LJ. Direct interaction between causative genes of DYT1 and DYT6 primary dystonia. Ann Neurol. 2010 Oct;68(4):549-53. |