Materials S1 - An Integrative Computational Approach for Prioritization of Genomic Variants

Supporting text, figures and table. Text S1. Methodology. Figure S1. The overall view of the energy-minimized structures of SLC19A1, native (a) and H27R mutant (b). Figure S2. The changes to the binding site caused by the mutation (left: native, right: H27R mutant). (a and b) The mutation results in changing contact landscape inside the cleft, especially for the Arg151 residue. (c) Shift of Pro146 causes a kink in the loop, causing the helix to kink and the sidechain of Phe141 to turn, reducing the size of the cleft entrance. Figure S3. Visualization of the cleft volume and shape in both the native (left) and the mutant (right) structures. The H27R mutation reduces the volume of the cleft by 33%. Table S1. Volume and surface area of the cleft in the native and the mutant structures as calculated by 3V (ref).
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