| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.213dup | p.Leu72ThrfsX14 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CTG | Leu | ins1a | Fs. | Stop at 85 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| L4-THAP dom. |
| At the mRNA level | On restriction map |
| Duplication | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| CHI02CHE F0001 I0001 | Proband | Male | No family history | CHINA |
| Phenotypic group | Disease |
| NA | Focal dystonia |
| Symptom | Severity | Age |
| Age at last examination | 27 | |
| Age of onset | neck | 26 |
| Neck | 26 |
| publication name c.214_215insA |
| Reference ID | PubMed ID | Reference |
| 21 | 21839475 | Song W, Chen Y, Huang R, Chen K, Pan P, Yang Y, Shang HF. Novel THAP1 gene mutations in patients with primary dystonia from Southwest China. J Neurol Sci. 2011 Oct 15;309(1-2):63-7. |