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. Author manuscript; available in PMC: 2015 Apr 1.
Published in final edited form as: Nat Genet. 2014 Sep 14;46(10):1140–1146. doi: 10.1038/ng.3089

Figure 2. The NLRC4 mutation occurs de novo in a highly conserved area of the nucleotide binding domain.

Figure 2

(a) Chromosomal location, adjacent genes, and exon structure of the NLRC4 gene and domain structure of the NLRC4 protein. AA = Amino Acid number. (b) Pedigree showing a de novo heterozygous mutation. The affected patient is denoted by a filled circle. (c) Location of amino acid substitution from threonine to serine at position 337 and R-group interactions with adjacent residues in the NBD which are predicted to be important for stabilizing ADP-binding (based on the crystal structure of the murine protein6). NBD = Nucleotide Binding Domain, WHD = Winged-Helix Domain, HD = Helical Domain, LRR = Leucine Rich Repeat Domain. Green dashed line indicates predicted side chain interactions.