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Article

On human disease-causing amino acid variants: statistical study of sequence and structural patterns.

Human mutation - 1 May 2015

Petukh Marharyta, Kucukkal Tugba G, Alexov Emil

Abstract excerpt

Statistical analysis was carried out on large set of naturally occurring human amino acid variations, and it was demonstrated that there is a preference for some amino acid substitutions to be associated with diseases. At an amino acid sequence level, it was shown that the disease-causing variants frequently involve drastic changes in amino acid physicochemical properties of proteins such as charge,...

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Identifiers

PMID: 25689729
DOI: 10.1002/humu.22770
PMCID: PMC4409542

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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