| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.62C>G | p.Ser21Cys | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TCT | Ser | TGT | Cys | C->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| L1-THAP dom. | Yes, 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 | 0.00 (pathogenous) | 65 (Probably pathogenous) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| USA02MEN F0010 I0001 | Proband | Male | Familial | NA |
| Phenotypic group | Disease |
| NA | Generalized dystonia |
| Symptom | Severity | Age |
| Age at last examination | 24 | |
| Age of onset | neck | 12 |
| Arm | bilateral | 24 |
| Leg | 24 | |
| Neck | 24 |
| 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. |