| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.135_139delinsGGGTTTA | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TTT | Phe | indels | indels | indels | indels |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| L3-THAP dom. | DNA binding - |
| 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) |
|---|---|---|
| 0.79 | - | 65 (Probably pathogenous) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| USA01NYO F0002 I0001 | 303 | Family W | Proband | Male | Familial | AMISH-MENNONITE |
| Phenotypic group | Disease |
| Reduced nuclear import | Segmental dystonia |
| Symptom | Severity | Age |
| Age at last examination | 66 | |
| Age of onset | cranial | 21 |
| Arm | 66 | |
| Cranial | 21 | |
| Face | 66 | |
| Jaw | 66 | |
| Larynx | 66 | |
| Speech | 66 | |
| Tongue | 66 |
| Reduced nuclear import demonstrated in ref 33. |
| Reference ID | PubMed ID | Reference |
| 1 | 19182804 | Fuchs T, Gavarini S, Saunders-Pullman R, Raymond D, Ehrlich ME, Bressman SB, Ozelius LJ. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet. 2009 Mar;41(3):286-8. |