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Article

Molecular mechanisms of disease-causing missense mutations.

Journal of molecular biology - 1 Nov 2013

Stefl Shannon, Nishi Hafumi, Petukh Marharyta, Panchenko Anna R, Alexov Emil

Abstract excerpt

Genetic variations resulting in a change of amino acid sequence can have a dramatic effect on stability, hydrogen bond network, conformational dynamics, activity and many other physiologically important properties of proteins. The substitutions of only one residue in a protein sequence, so-called missense mutations, can be related to many pathological conditions and may influence susceptibility to disease and...

Topics

Genetic Predisposition to Disease
Genome-Wide Association Study
Humans
Mutation, Missense
Protein Stability
Proteins

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 23871686
DOI: 10.1016/j.jmb.2013.07.014
PMCID: PMC3796015

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