Functional studies on three novel HCNH2 mutations in Taiwan: Identification of distinct mechanisms of channel defect and dissociation between glycosylation defect and assembly defect

In conclusion, we identified three novel LQTS-related KCNH2 mutations and each had a distinct mechanism of channel defect. For p.R744fs mutant, adding GFP to the C-terminus rescued the glycosylation defect but the channel was still assembly defective indicating a dissociation between glycosylation and assembly defects.