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Comprehensive analysis of the functional impact of single nucleotide variants of human CHEK2
Loss-of-function variants in CHEK2 confer increased risk of developing cancers. Most CHEK2 variants, however, have an unknown effect on the function of the Chk2 protein kinase. This study tested the functional impact of all possible variants in the CHEK2 coding region. The protein structure is shown with a heat map overlay showing the fraction of variants at each position that were damaging to function; red positions indicate that all amino acid changes were damaging, while blue positions indicate all changes were tolerated. Regions the least tolerant to changes (red) include the catalytic site in the kinase domain. See McCarthy-Leo et al. Download August’s cover page
Image Credit: Claire E. McCarthy-Leo
Citation: (2024) PLoS Genetics Issue Image | Vol. 20(8) September 2024. PLoS Genet 20(8): ev20.i08. https://doi.org/10.1371/image.pgen.v20.i08
Published: September 3, 2024
Copyright: © 2024 . This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Loss-of-function variants in CHEK2 confer increased risk of developing cancers. Most CHEK2 variants, however, have an unknown effect on the function of the Chk2 protein kinase. This study tested the functional impact of all possible variants in the CHEK2 coding region. The protein structure is shown with a heat map overlay showing the fraction of variants at each position that were damaging to function; red positions indicate that all amino acid changes were damaging, while blue positions indicate all changes were tolerated. Regions the least tolerant to changes (red) include the catalytic site in the kinase domain. See McCarthy-Leo et al. Download August’s cover page
Image Credit: Claire E. McCarthy-Leo