Single nucleotide polymorphism (SNP) that impact membrane-proximal phosphotyrosine signalling motifs (pTyr-Motifs) are rare. Increasing evidence point to their biological relevance and their role in contributing to the differences in disease progression in humans. SNPs that alter proximal signalling (pTyr-SNPs) occur in the membrane-proximal segments of transmembrane proteins that were once believed to lack any signalling activity. They appear to be randomly distributed in the human genome. New results are now emerging that indicate STAT3-enhancing pTyr-SNPs are enriched in the genomes of cancer patients. But there is still some mystery on why pTyr-SNPs are found in different proteins in different individuals such that they are never common?
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