Genotype-structure-phenotype relationships diverge in paralogs ATP1A1 , ATP1A2 , and ATP1A3

Abstract excerpt

Objective We tested the assumption that closely related genes should have similar pathogenic variants by analyzing >200 pathogenic variants in a gene family with high neurologic impact and high sequence identity, the Na,K-ATPases ATP1A1, ATP1A2, and ATP1A3. Methods Data sets of disease-associated variants were compared. Their equivalent positions in protein crystal structures were used for insights into...

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