| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.86G>A | p.Arg29Gln | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGA | Arg | CAA | Gln | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| L2-THAP dom. | DNA binding - | Yes, non coding strand | Yes |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): Taq I, Tth111 I |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.79 | 0.06 (non pathogenous) | 65 (Probably pathogenous) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| UKD01LON F0001 I0001 | Case 1 | - | Proband | Male | No family history | SPAIN |
| Phenotypic group | Disease |
| NA | Focal dystonia |
| Symptom | Severity | Age |
| Age at last examination | 55 | |
| Age of onset | neck | 9 |
| Arm | 54 | |
| Dysarthria | 54 | |
| Face | 54 | |
| Neck | 9 | |
| Speech | 54 |
| Reference ID | PubMed ID | Reference |
| 5 | 19908320 | Pais‡n-Ruiz C, Ruiz-Martinez J, Ruibal M, Mok KY, Indakoetxea B, Gorostidi A, Mass— JF. Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia. Mov Disord. 2009 Dec 15;24(16):2428-9. |