Extended Data Fig. 2: Example of western blots.
From: Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease
a, Example western blots of overexpressed variants. Arrows indicated overexpressed protein (upper band, shifted from the FLAG-HA tag) and endogenous PHGDH protein (lower band). b, Relative expression of each PHGDH variant calculated from three independent experiments and normalized to corresponding WT expression in each blot. c) PHGDH enzymatic activity after correcting for endogenous activity and without normalizing for overexpressed variant protein abundance. Data for variants that retain less than 25% activity or expression are shown in red, between 25-75% activity or expression are shown in pink, and more than 75% activity or expression are shown in grey. Data are shown as the mean +/- SEM, n ≥ 3 independent experiments.
