Population genetics of the IFNAR1 variants present in the HGID and gnomAD v4.0.0 databases. (A) The biallelic variants are shown in red, whereas the monoallelic variants are shown in black. The dotted line represents the gene damage index. MSC, mutation significance cutoff; CADD, combined annotation-dependent depletion; MAF, minor allele frequency. (B) Western blot for IFNAR1 in IFNAR1-deficient HEK293T cells transiently transfected with WT or mutant IFNAR1 cDNA constructs and treated with PNGase to remove oligosaccharides from glycoproteins. An antibody recognizing the N-terminus (SD2) of the IFNAR1 protein was used. GAPDH was used as a loading control. A representative blot from at least two experiments is shown. EV, empty vector; WT, wild type. Source data are available for this figure: SourceData FS1.