| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.46A>G | p.Lys16Glu | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAG | Lys | GAG | Glu | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| L1-THAP dom. | Yes, non coding strand | 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) |
|---|---|---|
| 0.71 | 0.09 (non pathogenous) | 47 (Polymorphism) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| USA02MEN F0011 I0001 | Proband | Male | Familial | U.S.A. |
| Phenotypic group | Disease |
| NA | Generalized dystonia |
| Symptom | Severity | Age |
| Age at last examination | 44 | |
| Age of onset | larynx | 6 |
| Arm | bilateral | 44 |
| Face | Upper face | 44 |
| Face | Lower face | 44 |
| Jaw | 44 | |
| Larynx | 44 | |
| Leg | bilateral | 44 |
| Neck | 44 | |
| Tongue | 44 | |
| Trunk | 44 |
| Reference ID | PubMed ID | Reference |
| 25 | 22377579 | LeDoux MS, Xiao J, Rudzinska M, Bastian RW, Wszolek ZK, Van Gerpen JA, Puschmann A, Momcilovic D, Vemula SR, Zhao Y. Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.Parkinsonism Relat Disord. 2012 Jun;18(5):414-25. |