| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS1-4T>C (c.72-4T>C) | Heterozygous | Polymorphism |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAG | Lys | spl-4 | Spl. | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| BS1-THAP dom. | DNA binding - |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): none |
| Impact on splicing | ||||||||||
| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| ccttcttcttagGT |
| ccttcttcctagGT |
| 0.8 % | ||||||
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| UKD02LON F0004 I0001 | Family M | Proband | Female | Familial | U.K. |
| Phenotypic group | Disease |
| NA | Focal dystonia |
| Symptom | Age |
| Age at last examination | 56 |
| Age of onset | 17 |
| Face | 17 |
| Jaw | 17 |
| Speech | 56 |
| No significant splicing motif alteration detected. This mutation has probably no impact on splicing. Patient presenting with the c.77C>G mutation. |
| Reference ID | PubMed ID | Reference |
| 8 | 20211909 | Houlden H, Schneider SA, Paudel R, Melchers A, Schwingenschuh P, Edwards M, Hardy J, Bhatia KP. THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. Neurology. 2010 Mar 9;74(10):846-50. |