| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS1+9C>A (c.71+9C>A) | Heterozygous | Polymorphism |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAG | Lys | spl+9 | Spl. | C->A | Tv |
| 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 (%) | |||||
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| USA02MEN F0008 I0001 | Proband | Female | Unknown | U.S.A. |
| Phenotypic group | Disease |
| NA | Focal dystonia |
| Symptom |
| No significant splicing motif alteration detected. This mutation has probably no impact on splicing. Variation also described in 7 other probands. |
| Reference ID | PubMed ID | Reference |
| 7 | 20083799 | Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello RC, Wszolek ZK, Uitti RJ, Van Gerpen JA, Simon DK, Tarsy D, Hedera P, Truong DD, Frei KP, Dev Batish S, Blitzer A, Pfeiffer RF, Gong S, LeDoux MS. Novel THAP1 sequence variants in primary dystonia. Neurology. 2010 Jan 19;74(3):229-38. |