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

Figure 2.

Figure 2

Mutational spectrum of GIP gene missense variants. (A) A total of 168 glucose-dependent insulinotropic polypeptide (GIP) gene missense variants were mapped according to their amino acid position. A Combined Annotation-Dependent Depletion (CADD) score, predicting variant deleteriousness, was employed to establish a link between mutations and regions of particular importance in the precursor hormone. The GIP peptide is highlighted in blue and visualized by an experimental 3D structure (PDBid: 2OBU) (53), N-terminal segment (green), core segment (blue), C-terminal segment (grey). The corresponding variant allele frequency is colored by a gradient scale with more frequent variants (blue) and less frequent variants (red). (B) The bottom graph displays the conservation score at each alignment positions as obtained from ConSurf (54) to determine functionally important segments of the precursor hormone. A lower conservation score displays more conserved amino acid sites, indicating the GIP peptide sequence is more conserved across species (all metazoan, including invertebrates).