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. Author manuscript; available in PMC: 2016 Mar 3.
Published in final edited form as: Nature. 2015 Aug 10;525(7567):109–113. doi: 10.1038/nature14670

Extended Data Figure 6. Protein Expression Of Uncoupled Mutations.

Extended Data Figure 6

In order to determine which Family 1 DCHS1 mutation is leading to the observed decrease in protein expression, constructs were generated that harbored only the p.P197L or the p.R2513H variant. Mutant refers to the double mutant P197L/R2513H construct. Western blot analyses from transfected HEK293 cells demonstrate that the p.R2513H mutation causes a significant decrease in DCHS1 protein expression, similar to that of the construct with both variants (mutant), suggesting pathogenicity. Percent difference in protein levels is depicted. Normalization of data was accomplished by qPCR specific to the transfected constructs. p-values are denoted in graphs.