NFKB2 mutation. (A) Frequency histogram of novel alleles according to filter based on tissue expression, phenotype of mice with mutations in orthologs, disease association, GO, and PolyPhen-2 scores (NFKB2 in red circle). (B) Sanger sequencing of NFKB2 (according to pedigree in Figure 1). (C) Summary of p100 processing. Amino acid D in red indicates the location of D865G mutation, which is adjacent to one of the N-terminal phosphorylation sites (S866). Rel homology domain (green), ankyrin repeat domains (orange), death domain (black). (D) Conservation of mutated residue of NF-κB2.