FIGURE 3.

Transient receptor potential cation channel subfamily M member 7 (TRPM7) variants and gene structure. Genomic organization of TRPM7 depicting the localization and phylogenetic conservation of amino acid residues affected by mutations identified in the 3 families. Positions of mutations are highlighted in red. All altered sites demonstrate high evolutionary conservation across diverse species, underscoring their functional significance. The variants were absent in the gnomAD database, as well as in over 30,000 in-house exomes. Based on in silico prediction tools, all 5 distinct variants had a CADD score above 24, supporting their deleterious effect. Regions are not drawn to scale. Abbreviations: CADD, Combined Annotation Dependent Depletion; TRP, transient receptor potential.