Fig. 2: The heterozygous PSMB9 G156D variant. | Nature Communications

Fig. 2: The heterozygous PSMB9 G156D variant.

From: Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency

Fig. 2

a, b Pedigrees of patient 1 (a) and patient 2 (b). c Multiple alignments of PSMB9 (β1i) and PSMB6 (β1) in various species. Conserved amino acids among all these species are indicated by asterisks. G156 in murine PSMB9 and the corresponding amino acids are indicated in red. d Structures of wild type and PSMB9 G156D mutant of 20S proteasome. Structural models of PSMB9 G156D were created from the β1i-subunit structure [Protein Data Bank (PDB) ID code 3UNH]. Overall structure of 20S is shown as a ribbon model. β1i subunits are shown as green and cyan. D156 and some of the potential interacting residues of PSMB9 G156D mutant are shown in stick representation (green and cyan).

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