| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.83C>T | p.Thr28Ile | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ACT | Thr | ATT | Ile | C->T | Ts |
| 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 | 0.13 (non pathogenous) | 65 (Probably pathogenous) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| BRA01SAO F0006 I0001 | E.1 | - | Proband | Male | Familial | BRAZIL |
| Phenotypic group | Disease |
| NA | Segmental dystonia |
| Symptom | Severity | Age |
| Age at last examination | 25 | |
| Age of onset | larynx | 7 |
| Larynx | 7 | |
| Neck | 25 | |
| Speech | 25 | |
| Trunk | 25 |
| Reference ID | PubMed ID | Reference |
| 35 | 24976531 | da Silva-Junior FP, dos Santos CO, Silva SM, Barbosa ER, Borges V, Ferraz HB, Limongi JC, Rocha MS, de Carvalho Aguiar P. Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia. J Neurol Sci. 2014 Sep 15;344(1-2):190-2. |