Article
Gating pore currents occur in CaV1.1 domain III mutants associated with HypoPP.
The Journal of general physiology - 1 Nov 2021
Wu Fenfen, Quinonez Marbella, Cannon Stephen C
Abstract excerpt
Mutations in the voltage sensor domain (VSD) of CaV1.1, the α1S subunit of the L-type calcium channel in skeletal muscle, are an established cause of hypokalemic periodic paralysis (HypoPP). Of the 10 reported mutations, 9 are missense substitutions of outer arginine residues (R1 or R2) in the S4 transmembrane segments of the homologous domain II, III (DIII), or IV. The prevailing view is that R/X mutations...
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