Article
Investigating DNA-, RNA-, and protein-based features as a means to discriminate pathogenic synonymous variants.
Human mutation - 1 Oct 2017
Livingstone Mark, Folkman Lukas, Yang Yuedong, Zhang Ping, Mort Matthew, Cooper David N, Liu Yunlong, Stantic Bela, Zhou Yaoqi
Abstract excerpt
Synonymous single-nucleotide variants (SNVs), although they do not alter the encoded protein sequences, have been implicated in many genetic diseases. Experimental studies indicate that synonymous SNVs can lead to changes in the secondary and tertiary structures of DNA and RNA, thereby affecting translational efficiency, cotranslational protein folding as well as the binding of DNA-/RNA-binding proteins. However,...
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