| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.389_390delCA | p.Ser130CysfsX4 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TCA | Ser | del2b | Fs. | Stop at 133 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| At the mRNA level | On restriction map |
| No mechanism suspected | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| JAP01TOK F0001 I0004 | II-6 | 1 | Relative | Female | Familial | JAPAN |
| Phenotypic group | Disease |
| NA | Focal dystonia |
| Symptom | Severity | Age |
| Age at last examination | ||
| Age of onset | speech | 10 |
| Speech | 10 |
| Reference ID | PubMed ID | Reference |
| 31 | 22821615
228 | Miyamoto R, Ohta E, Kawarai T, Koizumi H, Sako W, Izumi Y, Obata F, Kaji R. Broad spectrum of dystonia associated with a novel thanatosis-associated protein domain-containing apoptosis-associated protein 1 mutation in a Japanese family with dystonia 6, torsion. Mov Disord. 2012 Sep 1;27(10):1324-5. |