| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.238A>G | p.Ile80Val | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ATA | Ile | GTA | Val | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| H4-THAP dom. | AVPTIF motif | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): Ssp I |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.79 | 0.60 (non pathogenous) | 53 (Probable polymorphism) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| USA02MEN F0009 I0001 | Father of USA02MEN F0009 I0002 | Proband | Male | Familial | U.S.A. |
| Phenotypic group | Disease |
| NA | Segmental dystonia |
| Symptom | Severity | Age |
| Age at last examination | 50 | |
| Age of onset | arm | 23 |
| Arm | hand tremor | 23 |
| Neck | 50 |
| Also described in ref 40 (patient 2). |
| 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. |