The UMD-THAP1 mutations database
Record ID: 53
Mutation description
| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.16T>C | p.Ser6Pro | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TCC | Ser | CCC | Pro | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| L1-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) |
|---|---|---|
| 0.71 | 0.20 (non pathogenous) | 71 (Probably pathogenous) |
Patient and sample data
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| FRA02PAR F0261 I0003 | Proband | Male | Familial | FRANCE |
| Phenotypic group | Disease |
| NA | Focal dystonia |
Associated pictures
 Genealogic tree |
Clinical data
| Symptom | Severity | Age |
| Age at last examination | 60 | |
| Age of onset | neck | 20 |
| Neck | 60 |
Reference
| Reference ID | PubMed ID | Reference |
| 15 | 21110056 | Clot F, Grabli D, Burbaud P, Aya M, Derkinderen P, Defebvre L, Damier P, Krystkowiak P, Pollak P, Leguern E, San C, Camuzat A, Roze E, Vidailhet M, Durr A, Brice A. Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype. Neurogenetics. 2011 Feb;12(1):87-9. |