By Institute of Science in Society
Single nucleotide mutations form the majority of genetic polymorphisms (single nucleotide polymorphisms, SNPs) in populations. When found in gene protein coding regions, SNPs can be synonymous, i.e., causing no change in the amino acid encoded, or non-synonymous, when the amino acid is altered. Until the current decade, synonymous mutations were assumed to be neutral, with no effect on the protein or any other functions of the organism. Sequencing a vast array of genomes has revealed surprisingly, that many synonymous mutations were causing dysfunctions and illnesses in plants and animals. Synonymous mutations may lead to changes in protein folding related to translation pausing, RNA splicing, and alterations in enzyme specificity.
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