Fig. 3From: Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutationHomology modeling of novel missense variants identified in the GBA1 gene. The native structure (blue) and mutant structure (brown) are superimposed. a The model of the variant p.Ser136Leu depicting the changes in the loop region joining α1 and α1a; at the codon number 136 (TCA-TTA). b The model of the variant p.Leu279Val depicting the destabilization of the normal shape of the active site cavity at the codon number 279 (CTG-GTG). c The model of the variant p.Gly383Asp depicting the conformational changes in the loop regions at the codon number 383 (GGC-GAC). d The model of the variant p.Gly399Arg depicting the conformational changes in the alpha helix at the codon number 399 (GGG-CGG). All the models reveal the conformational changes in the GBA protein structureBack to article page