FIGURE

Fig. 1

ID

ZDB-FIG-230915-1

Publication

Patterson et al., 2023 - Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish

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Fig. 1

MAP4K4 variants identified in affected individuals cluster in functional domains.

(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.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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