Fig. 3From: Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patientsHomology 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.Back to article page