In silico studies of GALNT10 p.E462D. (A) Heat map representation of SNAP2 results depicting the predicted impact of individual AA substitutions (y-axis) for each position (x-axis) on protein function. Substitutions with strong effects are depicted with dark red (score = 100), whereas weak substitutions are represented with blue (score = −100). White represents neutral substitutions. Black represents the corresponding wild-type residue. The E462D variant is shown with yellow rectangles. (B) Comparative sequence analysis across representative phylogeny. The variant site is shown with a blue box. The organisms and their sequence IDs are also included. Differences are highlighted in red. (C) Schematic diagram of the GALNT10 protein with its domains. The variant identified in this study is marked with an arrow. (D) 3D crystal structure of PDB 2d7i. AA position 462 is marked with an arrow. (E) Thermodynamic change in Gibb's free energy caused by the p.E462D substitution as predicted by the mCSM.