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Fig. 1
(A) A schematic of the mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4) protein is shown (NP_001229488.1), with the positions of variants identified in our cohort indicated by arrows above the diagram. Green arrows represent frameshift or truncation variants, and purple arrows represent missense variants. Arrows below the diagram represent the corresponding mutations introduced to our expression construct (NM_001384485.1, Δ2078-2083). Regions reported to be phosphorylated are shown by red squares. (B) A schematic of the canonical transcript and a longer isoform are shown. Gray boxes represent exons conserved between sequences, and black boxes represent exons that differ between sequences. Green arrows represent variants in splice donor sites, and purple arrows represent variants in splice acceptor sites.