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• W2156880618 abstract "Mutations in the muscular voltage-dependent CI− channel, ClC-1, lead to recessive and dominant myotonia. Here we analyse the effects of one dominant (G200R) and three recessive (Y150C, Y261C, and M485V) mutations after functional expression in Xenopus oocytes. Glycine 200 is a highly conserved amino acid located in a conserved stretch in the putatively cytoplasmic loop between domains D2 and D3. Similar to several other dominant mutations the amino acid exchange G200R leads to a drastic shift by ∼65 mV of the open probability curve to more positive voltages. As explored by co-expression studies, the shift is intermediate in heteromeric mutant/WT channels. Open channel properties such as single channel conductance, rectification or ion selectivity are not changed. Thus we identified a new region of the ClC-1 protein in which mutations can lead to drastic shifts of the voltage dependence. The recessive mutation M485V, which is located in a conserved region at the beginning of domain D10, leads to a drastic reduction of the single channel conductance from 1.5 pS for WT to ∼0.3 pS. In addition, the mutant is strongly inwardly rectifying and deactivates incompletely at negative voltages. Ion-selectivity, however, is unchanged. These electrophysiological properties fully explain the recessive phenotype of the mutation and identify a new region of the protein that is involved in ion permeation and gating of the ClC-1 channel. The other two recessive mutations (Y150C and Y261C) had been found in a compound heterozygous patient. Surprisingly, expression of these mutants in oocytes yielded currents indistinguishable from WT ClC-1 when explored by two-electrode voltage clamp recording and patch clamping (either singly or both mutations co-expressed). Other mechanisms that are not faithfully represented by the Xenopus expression system must therefore be responsible for the myotonic symptoms associated with these mutations." @default.
• W2156880618 created "2016-06-24" @default.
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• W2156880618 date "1997-05-01" @default.
• W2156880618 modified "2023-10-18" @default.
• W2156880618 title "Identification of Functionally Important Regions of the Muscular Chloride Channel ClC-1 by Analysis of Recessive and Dominant Myotonic Mutations" @default.
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• W2156880618 doi "https://doi.org/10.1093/hmg/6.5.805" @default.
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