Selected article for: "common variant and missense variant"
Author: William T Gibson; Daniel M Evans; Jianghong An; Steven JM Jones
Title: ACE 2 Coding Variants: A Potential X-linked Risk Factor for COVID-19 Disease
  • Document date: 2020_4_14
    • ID: 05w8tv8x_16
    Snippet: For rare X-linked variants it is best to deconvolute allele frequencies by both sex and subpopulation, to 153 achieve a fuller picture of the prevalence of hemizygous males in individual regions or countries. Any 154 disease risk signal conferred by a functional X-linked allele will otherwise be diluted by lumping 155 hemizygous males in with heterozygous female carriers, who are likely at a lower risk due to mosaic 156 expression of the variant......
    Document: For rare X-linked variants it is best to deconvolute allele frequencies by both sex and subpopulation, to 153 achieve a fuller picture of the prevalence of hemizygous males in individual regions or countries. Any 154 disease risk signal conferred by a functional X-linked allele will otherwise be diluted by lumping 155 hemizygous males in with heterozygous female carriers, who are likely at a lower risk due to mosaic 156 expression of the variant. After rs41303171, rs4646116 is the next-most-common missense ACE2 157 variant (global MAF 0.4%); it is predicted to encode p.Lys26Arg. Our 3D modelling predicted 158 p.Lys26Arg to lie immediately beside the ACE2-Spike protein interface (albeit with the lysine side 159 chain pointing away from the interface). Prior work on ACE2 binding to SARS-CoV 18, 26 and recent 160 work on ACE2 binding to SARS-CoV-2 27, 28 by others has identified three main S protein binding 161 domains within ACE2. The largest includes Gln24, Thr27, Phe28, Asp30, Lys31, His34, Glu35, 162

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