Protein–protein interaction sites are hot spots for disease‐associated nonsynonymous SNPs

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Critical Assessment of Methods of Protein Structure Prediction (CASP) – Round XII (2017, background): “…Not surprisingly, mutations at protein-protein interfaces with structural effects destabilizing or altering the interactions are often associated with diseases 31 and structure information has been shown to be valuable in interpreting the functional effects of mutations on protein interactions.”
Protein Modelling: What Happened to the “Protein Structure Gap”? (2013, unknown): “Sequence variations in protein-protein interfaces are often associated with human diseases as they have the potential to disrupt regulatory networks in the cell (David et al., 2012; Vidal et al., 2011; Wei et al., 2013).”
SuSPect: Enhanced Prediction of Single Amino Acid Variant (SAV) Phenotype Using Network Features (2014, background): “However, variants on the surface can affect PPIs, leading to disease [14,15].”
Interactome3D: adding structural details to protein networks (2013, background): “Indeed, knowledge of the molecular details of binding has permitted a more rational analysis of exposed disease-causing mutations 6,7 ; the design of experiments to disrupt an interaction and perturb systems where interactions are involved 8 ; and distinction between ‘singlish’ and multi-interface…”