Homology modeling of novel missense variants identified in PPT1 gene. The native structure (blue) and mutant structure (brown) are superimposed. a The model of p.Cys45Arg depicting the amino acid change from polar to basic at the codon number 45 (TGT-CGT). b The model of p.Val236Gly depicting the amino acid change from non-polar to acidic at the codon number 236 (GTG-GAG). c The model of p.Pro238Leu depicting the amino acide change from non-polar to hydrophobic at the codon number 238 (CCT-CTT). All the models reveal the conformational changes in the PPT1 protein structure.