Fig. 6
From: Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions
Predicted ClC-Ka/ClC-Kb hybrid proteins in patients P6 and P11. A AlphaFold2 prediction of the ClC-Ka1-218b219-687 hybrid homodimer (P11). B AlphaFold2 prediction of the ClC-Ka1-540b541-687 hybrid homodimer (P6). C Cryo-EM structure of the ClC-K homodimer from Bos taurus (PDB ID: 5TQQ, 84,3% seq ID to ClC-Ka and ClC-Kb). D View on the membrane region of ClC-Ka (teal) and ClC-Kb (pastel red) with the amino acid variations shown in sticks shows no significant changes in the ion tunnel between the variants ClC-Ka and ClC-Kb. E Putative adenosine nucleotide binding site in ClC-Ka and ClC-Kb superimposed with an ATP bound in ClC-7 structure (Protein data base: 7jm7). F Interface between the cytosolic CBS domains of the ClC-Ka and ClC-Kb proteins. G Dimerization interface of the CBS domains in the ClC-Ka and ClC-Kb shows distinct differences