| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.151A>G | p.Ser51Gly | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AGC | Ser | GGC | Gly | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| L3-THAP dom. | Yes, non coding strand | 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) |
|---|---|---|
| 0.79 | 0.06 (non pathogenous) | 53 (Probable polymorphism) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| NET01AMS F0004 I0001 | Proband | Female | No family history | NETHERLAND |
| Phenotypic group | Disease |
| NA | Segmental dystonia |
| Symptom | Severity | Age |
| Age at last examination | 35 | |
| Age of onset | larynx | 14 |
| Larynx | 14 | |
| Tongue | 35 |
| Reference ID | PubMed ID | Reference |
| 29 | 21538522 | Groen JL, Yildirim E, Ritz K, Baas F, van Hilten JJ, van der Meulen FW, Langeveld TP, Tijssen MA. THAP1 mutations are infrequent in spasmodic dysphonia. Mov Disord. 2011 Aug 15;26(10):1952-4. |