Fig. 4: Gel quantitation data measuring the functional activity of UBOX5 protein-altering variants to ubiquitinate BIP.
From: Functionally deficient UBOX5 variants and primary angle-closure glaucoma
Data are presented in biological triplicates. Intensity of the HA band was quantified and then normalized to the MYC signal of the same elute sample in the same gel. MYC signal was obtained after stripping the initial HA immunoblot and re-probing with MYC antibody. Wild-type UBOX5 (green bar) was measured independently 15 times to provide a confidence estimate of wild-type UBOX5 activity, so that functionally deficient UBOX5 variants (defined as <80% activity of wild-type UBOX5) can be more confidently identified. Variants in blue bars represent normally functioning UBOX5 alleles. A total of 42 UBOX5 variants were tested, comprising 35 variants detected in the initial study, and 7 variants in the validation study from Italy and Pakistan. Representative Western Blot gel photographs are presented as Supplementary Fig. 7. Error bars represent standard deviation. Source data are provided as a Source data file.
