Hayley Dingerdissen, Mona Motwani, Konstantinos Karagiannis, Vahan Simonyan and Raja Mazumder Proteome-wide analysis of nonsynonymous single-nucleotide variations in active sites of human proteins The FEBS Journal 280
We integrate nsSNV data and curated active-site annotations to identify all active-site-nsSNVs in humans. 934 nsSNVs at 559 active sites show over-representation of arginine and significant prevalence of aspartic acid to histidine variation. Clustering reveals over-representation of hydrolases and transferases. Majorly affected pathways are involved in carbohydrate metabolism. We provide a table of variation-substrate/product pairs for use in targeted metabolomics.
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