Human Missense Variation is Constrained by Domain Structure and Highlights Functional and Pathogenic Residues
Stuart A. MacGowan, Fábio Madeira, Thiago Britto‐Borges, Melanie S. Schmittner, Christian Cole, Geoffrey J. Barton
The paper identifies functionally important protein residues by analyzing missense variant distribution across human protein domains and finds these residues are enriched in disease-associated variants.
bioRxiv · Apr 13, 2017 · PreprintGenetics