missense mutations
The deleterious effects of missense mutations are commonly attributed to their impact on primary amino acid sequence and protein structure. However, some missense mutations are deleterious because they disturb cis-acting splicing elements-so-called "exonic splicing enhancers" (ESEs).
References
DePristo MA, Weinreich DM, Hartl DL. Missense meanderings in sequence space: a biophysical view of protein evolution. Nat Rev Genet. 2005 Sep;6(9):678-87. PMID: #16074985#
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