| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.348delT | p.Ile116MetfsX4 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ATT | Ile | del1c | Fs. | Stop at 119 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| At the mRNA level | On restriction map |
| Deletion in a stretch of nucleotide | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| BRA01SAO F0010 I0001 | J.1 | - | Proband | Female | No family history | BRAZIL |
| Phenotypic group | Disease |
| NA | Segmental dystonia |
| Symptom | Severity | Age |
| Age at last examination | 29 | |
| Age of onset | neck | 15 |
| Larynx | 29 | |
| Neck | 15 | |
| Speech | 29 | |
| Trunk | 29 |
| 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. |