Figure 2. A missense mutation in PSMB8.

(A) Sequences obtained from a healthy control with wild-type PSMB8; from 1-1M, characteristic of a person with a heterozygous PSMB8 mutation, with a single nucleotide exchange (G→T) in exon 5 of PSMB8; and 1-3PT, characteristic of a homozygous PSMB8 mutation. PSMB8 genotypes are shown. (B) 2 isoforms of PSMB8 and the location of the mutation. (C) The amino acid sequence of human PSMB8 was compared with those of Pan troglodytes, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus, and Danio rerio. Conserved residues at the mutated positions are indicated in red.