| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.424A>G | p.Thr142Ala | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ACA | Thr | GCA | Ala | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Coiled-Coil dom. | 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) |
|---|---|---|
| 0.93 | 0.39 (non pathogenous) | 65 (Probably pathogenous) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| USA01NYO F0016 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. |