Article
Comprehensive Analysis of Constraint on the Spatial Distribution of Missense Variants in Human Protein Structures
2017-02-18
Abstract excerpt
The spatial distribution of genetic variation within proteins is shaped by evolutionary constraint and thus can provide insights into the functional importance of protein regions and the potential pathogenicity of protein alterations. Here, we comprehensively evaluate the 3D spatial patterns of constraint on human germline and somatic variation in 4,568 solved protein structures. Different classes of coding varian...
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Identifiers and source
- Literature Corpus work
- cdde9b86-efae-54e4-a952-8f2f225423d5
- DOI
- 10.1101/109652
