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Fig. 3 | Genome Medicine

Fig. 3

From: Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Fig. 3

Functional alterations in TASK3 are associated with altered ion distribution. We show, here, selected examples with broader characterization in Additional File 6: Fig. S6 and S7. A We show smoothed K+ RDF for selected variants, with M159I and R131H showing WT-like but lower presence of K+ around the selectivity filter and a depletion for G236R. B The smoothed K+ RDF centered at residue 236, which is towards the cytoplasmic face, again shows a drastic depletion for G236R, less drastic for R131H, and a more modest change for M159I. C Smoothed K+ RDF centered around the selectivity filter shows that the significant depletion for G236R is partially rescued by the A237T double-variant with a modest increase for A237T alone. This is consistent with previously reported experimental assays that showed A237T to be a partial compensating variant for G236R

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