Table 2. Variants predicted to affect function identified in ET families.
| Family | Gene | cDNA (Ensembl transcript) | Protein | Function |
|---|---|---|---|---|
| A | NOS3 | c.46G>A (ENST00000297494) | p.Gly16Ser | Enzyme that converts the neurotransmitter NO from l-arginine |
| B | NOS3 | c.164C>T (ENST00000297494) | p.Pro55Leu | Enzyme that converts the neurotransmitter NO from l-arginine |
| C | KCNS2 | c.1137T>A (ENST00000287042) | p.Asp379Glu | K+ channel highly expressed in Purkinje and granular cells |
| D | HAPLN4 | c.1048G>C (ENST00000291481) | p.Gly350Arg | Hyaluronan and proteoglycan link protein 4. Expressed in perineuronal nets in the basal ganglia and cerebellum |
| E | USP46 | c.398C>T (ENST00000441222) | p.Ala133Val | Ubiquitin-specific protease 46 involved in GABA synthesis. Highly expressed in cerebellum |
Abbreviations: ET, essential tremor; GABA, gamma-amino butyric acid; HAPLN4, hyaluronan and proteoglycan link protein 4; NO, nitric oxide; NOS3, nitric oxide synthase 3 gene; USP46, ubiquitin-specific protease 4.