The UMD-THAP1 mutations database
Record ID: 7
Mutation description
| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.115G>A | p.Ala39Thr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GCT | Ala | ACT | Thr | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| AH1-THAP dom. | AA interactions | Yes, non coding strand | No |
Mutation impact
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): Alu I, Fnu4H I, Pvu II |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.79 | 0.19 (non pathogenous) | 88 (Pathogenous) |
Patient and sample data
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| USA01NYO F0011 I0001 | D009 | 5 | Proband | Unknown | Familial | U.S.A. |
| Phenotypic group | Disease |
| NA | Unknown |
Associated pictures
 Genealogic tree |
Clinical data
| Symptom |
| No clinical data available |
Reference
| Reference ID | PubMed ID | Reference |
| 2 | 19345148 | Bressman SB, Raymond D, Fuchs T, Heiman GA, Ozelius LJ, Saunders-Pullman R. Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. Lancet Neurol. 2009 May;8(5):441-6. |