The UMD-THAP1 mutations database
Record ID: 99
Mutation description
| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.89C>G | p.Pro30Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CCC | Pro | CGC | Arg | C->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| L2-THAP dom. | Yes, coding strand | No |
Mutation impact
| 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) |
|---|---|---|
| 0.79 | 0.02 (pathogenous) | 87 (Pathogenous) |
Patient and sample data
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| CZE01PRA F0001 I0002 | sister | - | Relative | Female | Familial | CZECH |
| Phenotypic group | Disease |
| NA | Multifocal dystonia |
Associated pictures
 Genealogic tree |
 Genealogic tree |
Clinical data
| Symptom | Severity | Age |
| Age at last examination | 20 | |
| Age of onset | hand | 15 |
| Arm | 15 | |
| Dysarthria | mild | 17 |
| Jaw | 20 |
Reference
| Reference ID | PubMed ID | Reference |
| 16 | 21425341 | Jech R, Bares M, Krepelov‡ A, Urgos’k D, Havr‡nkov‡ P, Ruzicka E. DYT 6-A novel THAP1 mutation with excellent effect on pallidal DBS. Mov Disord. 2011 Apr;26(5):924-5. |