Article
A minimal role for synonymous variation in human disease.
American journal of human genetics - 1 Dec 2022
Dhindsa Ryan S, Wang Quanli, Vitsios Dimitrios, Burren Oliver S, Hu Fengyuan, DiCarlo James E, Kruglyak Leonid, MacArthur Daniel G, Hurles Matthew E, Petrovski Slavé
Abstract excerpt
Synonymous mutations change the DNA sequence of a gene without affecting the amino acid sequence of the encoded protein. Although some synonymous mutations can affect RNA splicing, translational efficiency, and mRNA stability, studies in human genetics, mutagenesis screens, and other experiments and evolutionary analyses have repeatedly shown that most synonymous variants are neutral or only weakly deleterious,...
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