Quantitative detection of single amino-acid polymorphisms by targeted proteomics

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Single nucleotide polymorphisms (SNPs) represent one kind of genomic DNA variation in a population.Correspondingly, Single amino-acid polymorphisms (SAPs) derived from non-synonymous SNPs represent protein variation in a population.Recently, based on proteomic approaches, SAPs in plasma proteomes of an Asian population have been systematically identified for the first time.That study showed that heterozygous and homozygous proteins with various SAPs in the population could have different associations with particular traits.Importantly, recent discoveries on widespread RNA and DNA sequence differences in transcriptomes imply a new source of SAPs due to consequence of RNA editome, which is independent on genomic SNPs.Furthermore, we argue there might be de nove SAPs that are not determined by either DNA or RNA sequences.
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