| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1A>G | p.Met1? | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ATG | Met | GTG | Val | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| THAP dom. | No | 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) | 100 (Pathogenous) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| BRA01SAO F0001 I0001 | patient 14 | - | Proband | Female | Familial | BRAZIL |
| Phenotypic group | Disease |
| NA | Generalized dystonia |
| Symptom | Severity | Age |
| Age at last examination | 12 | |
| Age of onset | leg | 4 |
| Arm | bilateral | 6 |
| Cranial | 6 | |
| Larynx | 6 | |
| Leg | bilateral | 6 |
| Neck | 6 | |
| Speech | 6 | |
| Trunk | 6 |
| Described as sib of patient G.1 in ref 35. |
| Reference ID | PubMed ID | Reference |
| 14 | 20925076 | De Carvalho Aguiar P, Fuchs T, Borges V, Lamar KM, Silva SM, Ferraz HB, Ozelius L. Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion. Mov Disord. 2010 Dec 15;25(16):2854-7. |