| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.394_396delTTC | p.Phe132del | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TTC | Phe | del3a | InF | In frame del | InF |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| At the mRNA level | On restriction map |
| No mechanism suspected | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| USA01NYO F0015 I0001 | Proband | Unknown | Unknown | U.S.A. |
| Phenotypic group | Disease |
| NA | Unknown |
| Symptom |
| No clinical data available |
| Reference ID | PubMed ID | Reference |
| 28 | 21752024 | Sengel C, Gavarini S, Sharma N, Ozelius LJ, Bragg DC. Dimerization of the DYT6 dystonia protein, THAP1, requires residues within the coiled-coil domain. J Neurochem. 2011 Sep;118(6):1087-100. |