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. Author manuscript; available in PMC: 2021 Apr 1.
Published in final edited form as: Hum Mutat. 2020 Jan 14;41(4):837–849. doi: 10.1002/humu.23975

FIGURE 1.

FIGURE 1

Schematic showing the positions of protein domains and their amino acid boundaries within the 1,025-residue IFIH1 protein. The 27 mutations ascertained in the present study are annotated, with the numbers in brackets indicating the number of families in which each mutation was observed. Three previously published mutations (p.Leu372Phe; p.Ala452Thr; p.Glu813Asp), not ascertained in our series, are also denoted (below the cartoon). CARD, caspase activation recruitment domain; Hel, helicase domain, where Hel1 and Hel2 are the two conserved core helicase domains and Hel2i is an insertion domain that is conserved in the RIG-I-like helicase family; P, pincer or bridge region connecting Hel2 to the C-terminal domain (CTD) involved in binding double stranded RNA