Abstract

There are two types of single nucleotide polymorphisms (SNPs): within coding regions and within non-coding regions. SNPs within coding regions should be further divided into two categories: synonymous and non-synonymous. The non-synonymous SNPs can result in variation of amino-acid sequences, which are single amino-acid polymorphisms (SAPs). Recently, using quantitative proteomic approaches, SAPs in the plasma proteomes were identified at population level for the first time, which showed that heterozygous and homozygous proteins with various SAPs have different associations with particular traits in the population. RNA editome that has been uncovered recently might be a new source of SAPs. In addition, there is another possible source of SAPs that is de nove one independent on both DNA and RNA sequences.

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