Article

Functional characterization of 3D-protein structures informed by human genetic diversity

2017-08-29

Abstract excerpt

Sequence variation data of the human proteome can be used to analyze 3-dimensional (3D) protein structures to derive functional insights. We used genetic variant data from nearly 150,000 individuals to analyze 3D positional conservation in 4,390 protein structures using 481,708 missense and 264,257 synonymous variants. Sixty percent of protein structures harbor at least one intolerant 3D site as defined by signifi...

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Literature Corpus work: 2e21c101-5840-5b06-866b-bc791b6fd428
DOI: 10.1101/182287

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