FIGURE 3

Structural interpretation of genetic alteration in putative adolescent idiopathic scoliosis (AIS)-related genes. (A) Lollipop plot for mapping mutations on the linear protein and its domains. P256L is the significant amino acid change caused by single nucleotide variants (SNVs) on DNAAF1. (B) Deleterious prediction by in silico methods. D means deleterious in SIFT, LRT, and FATHMM. In PolyPhen2, D means probably damaging. And in MutationTaster, D means disease causing. (C) The detailed template information and models of DNAAF1. The top template was selected and analyzed in the downstream analyses. (D) The sequence view displays the predicted secondary structure of DNAAF1, the confidence in this prediction, the secondary structure of the model, the sequence, and the modeled regions. The corresponding result scores for model assessment are shown with colors. (E) The sequence profile graph of DNAAF1 represents residue preferences at a particular sequence position. (F) The predicted 3D structure of the mapping domain on DNAAF1. Wild type (dark color) and mutant type (red color) of the variant are shown.