A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans
J. Clin. Invest. Akihisa Sawada, et al. 112:1707 doi:10.1172/JCI18937 [
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Figure 3Structures of LRRC8 and its mutant. (
a) Comparison of human LRRC8 and its murine ortholog. White letters on black boxes indicate different amino acids between the two species. LxxLxLxxNxLxxLPxxLxxL is the representative structure of LRR, where x means any amino acid. (
b) Schematic structures. White boxes, LRRs; hatched boxes, transmembrane helices; black box, additional polypeptides. N, N-terminal; C, C-terminal. (
c) Amino acid sequences of the mutant. Underlined characters represent translated polypeptides from the intron.
