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Article

Evolutionary anatomies of positions and types of disease-associated and neutral amino acid mutations in the human genome.

BMC genomics - 5 Dec 2006

Subramanian Sankar, Kumar Sudhir

Abstract excerpt

BACKGROUND: Amino acid mutations in a large number of human proteins are known to be associated with heritable genetic disease. These disease-associated mutations (DAMs) are known to occur predominantly in positions essential to the structure and function of the proteins. Here, we examine how the relative perpetuation and conservation of amino acid positions modulate the genome-wide patterns of 8,627 human...

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Identifiers

PMID: 17144929
DOI: 10.1186/1471-2164-7-306
PMCID: PMC1702542

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Source receipt: pubmed, retrieved 7 Sept 2026.

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