| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.167A>G | p.Glu56Gly | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAG | Glu | GGG | Gly | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| H2-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 | 0.09 (non pathogenous) | 76 (Pathogenous) |
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| POL02LOD F0001 I0004 | V.2 | Relative | Male | Familial | POLAND |
| Phenotypic group | Disease |
| NA | Asymptomatic |
| Symptom |
| Asymptomatic |
| Also described in ref 40. |
| Reference ID | PubMed ID | Reference |
| 37 | 25385508 | Gajos A, Golanska E, Sieruta M, Szybka M, Liberski PP, Bogucki A. High variability of clinical symptoms in a Polish family with a novel THAP1 mutation. Int J Neurosci. 2014 Nov 11. [Epub ahead of print] |