| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.20C>A | p.Ala7Asp | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GCC | Ala | GAC | Asp | C->A | 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 | 0.03 (pathogenous) | 92 (Pathogenous) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| USA02MEN F0007 I0001 | Proband | Male | No family history | U.S.A. |
| Phenotypic group | Disease |
| NA | Segmental dystonia |
| Symptom | Severity | Age |
| Age at last examination | 24 | |
| Age of onset | larynx | 8 |
| Arm | 24 | |
| Face | lower | 24 |
| Jaw | 24 | |
| Larynx | 24 | |
| Neck | 24 | |
| Speech | 24 | |
| Tongue | 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. |