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Article

Proteome-wide analysis of nonsynonymous single-nucleotide variations in active sites of human proteins.

The FEBS journal - 1 Mar 2013

Dingerdissen Hayley, Motwani Mona, Karagiannis Konstantinos, Simonyan Vahan, Mazumder Raja

Abstract excerpt

An enzyme's active site is essential to normal protein activity such that any disruptions at this site may lead to dysfunction and disease. Nonsynonymous single-nucleotide variations (nsSNVs), which alter the amino acid sequence, are one type of disruption that can alter the active site. When this occurs, it is assumed that enzyme activity will vary because of the criticality of the site to normal protein...

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Identifiers

PMID: 23350563
DOI: 10.1111/febs.12155

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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