Fig. 2: Functional consequences of the observed variants on R1β protein function. | Genetics in Medicine

Fig. 2: Functional consequences of the observed variants on R1β protein function.

From: Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Fig. 2

(a) PKA enzymatic activity assay: basal and total PKA enzymatic activity in lysates of HEK293 cells transfected with PRKAR1B expression constructs (wild type [WT], p.Q167L, p.E196K and p.R335W [p.Gln167Leu, p.Glu196Lys and p.Arg335Trp]). One-way analysis of variance (ANOVA) was performed for both basal and total PKA activity data sets; a Bonferroni multiple comparison test was used for basal activity data that produced a significant ANOVA statistic. (b) Fluorescence resonance energy transfer (FRET) in HEK293 cells transfected with R1β-Venus (WT, p.Q167L, p.E196K and p.R335W) and Cα-Cerulean vectors. A Mann–Whitney U-test was used to check for statistical significance as data were not normally distributed.

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