| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.508T>C | p.Cys170Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | CGC | Arg | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Coiled-Coil dom. | No | No |
| 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) |
|---|---|---|
| 0.86 | 0.00 (pathogenous) | 94 (Pathogenous) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| ITA01ROM F0001 I0001 | case 1 | - | Proband | Male | No family history | GREECE |
| Phenotypic group | Disease |
| NA | Segmental dystonia |
| Symptom | Severity | Age |
| Age at last examination | 57 | |
| Age of onset | hand | 10 |
| Arm | 10 | |
| Neck | Severe | 16 |
| Reference ID | PubMed ID | Reference |
| 6 | 19908325 | Bonetti M, Barzaghi C, Brancati F, Ferraris A, Bellacchio E, Giovanetti A, Ialongo T, Zorzi G, Piano C, Petracca M, Albanese A, Nardocci N, Dallapiccola B, Bentivoglio AR, Garavaglia B, Valente EM. Mutation screening of the DYT6/THAP1 gene in Italy. Mov Disord. 2009 Dec 15;24(16):2424-7. |