Mapping the Constrained Coding Regions in the Human Genome to Their Corresponding Proteins

Journal of Molecular Biology(2023)

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摘要
•CCRs are based on human conservation and complement inter-species conservation.•CCRs assist in variant interpretation, here we mapped them onto proteins sites.•The most constrained coding sites correspond to protein sites in interactions.•These interactions include those with DNA/RNA, proteins and in catalytic active sites.•Those driving LLPS, in LIPs and in disorder–order transitions are also highly constrained.
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关键词
population variability,disease-related variants,constrained coding regions,protein functional features,liquid-liquid phase separation
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