Fig. 3

The impact of the novel variant on the model of NSUN2 protein. a The amino acid sequence of NSUN2 is colored based on mutational sensitivity using Phyre2 investigator. The server predicts the discrimination between disease-causing variants with high and low (neutral variants) sensitivity. b The novel variant creates a beta-sheet structure between mutant and other residues in the enlarged image. c the schematic structure of conservation in the different regions. The purple and green colors show a highly and lowly conserved region, respectively. Lue198 is located in a conserved middle area. The B-factors provide information about the atomic displacement and dynamic parameters in the protein's crystal structure. The image shows that wild-type residue is located in a functional and structural region. d The graph shows the conservation of multiple sequence alignments from multiple species. The overall height of each symbol in that position presents the relative frequency of each nucleotide in the sequence. e The original (Leucine) and the mutant (Arginine) amino acid schematic structure