Figure 3.

Details of the UNC93B1 missense variant. (A) Representative Sanger electropherograms from dogs with the three different genotypes at c.1438C>A are shown. The amino acid translation is indicated. (B) Evolutionary conservation of the SDCBP binding domain [30]. The proline at position 480 of the canine UNC93B1 protein is strictly conserved across all vertebrates. The sequences were derived from the following database accessions: dog XP_540813.3, human NP_112192.2, cow XP_540813.3, horse XP_023510352.1, mouse NP_062322.2, rat NP_001101983.1, chicken XP_004941322.1, frog NP_001093723.1, zebrafish XP_0026660582.1. (C) Scanning-alanine mutagenesis in mouse macrophages identified four mutants that disrupt SDCBP binding and lead to upregulated TLR7 signaling [30]. The altered residues in these mutants are underlined.