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. 2022 Jun 29;13:891586. doi: 10.3389/fendo.2022.891586

Figure 1.

Figure 1

Prevalence of missense variants in the GIP gene. (A) The human glucose-dependent insulinotropic polypeptide (GIP) gene is located on chromosome 17q21.32 and is mainly expressed in the stomach and in K cells of the small intestine epithelium (1). The GIP peptide is derived from a 153 amino acid prohormone, pre-pro-GIP, encoding four domains: a signal peptide (1-21), an N-terminal propeptide fragment (22-50), GIP(52-93), and a C-terminal propeptide fragment (95-153). Intracellularly, GIP(1-42) is liberated from the prohormone upon processing via PC1/3 cleaving at single arginine residues (19). (B) 168 missense GIP gene variants were aggregated from three independent cohorts with a total of 721,991 participants: UK Biobank (454,787 exomes) (20), gnomAD (125,748 exomes and 15,708 genomes) (21), and TOPMed (132,345 exomes) (22). The variants are found in 105 different amino acid positions (69%). (C) 41 missense variants identified in the GIP gene were found in the sequence encoding the biologically active GIP(1-42) peptide spanning 24 different amino acid positions (57%). Figure 1A Created with BioRender.com.