Selected article for: "naturally occur and spike protein"
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_19
    Snippet: We estimated a high prior probability that human germline coding variants affecting these key 167 binding residues would also affect the affinity of the endogenous human ACE2 protein for the viral 168 be at or near the ACE2-S protein interface. All of these variants occur naturally in humans, and could 172 plausibly affect risk for progression to COVID-19 after an initial encounter with SARS-CoV-2. We 173 modelled the interface between ACE2 and t.....
    Document: We estimated a high prior probability that human germline coding variants affecting these key 167 binding residues would also affect the affinity of the endogenous human ACE2 protein for the viral 168 be at or near the ACE2-S protein interface. All of these variants occur naturally in humans, and could 172 plausibly affect risk for progression to COVID-19 after an initial encounter with SARS-CoV-2. We 173 modelled the interface between ACE2 and the viral spike protein as shown in Figure 1 . ) . CC-BY-NC-ND 4.0 International license author/funder. It is made available under a The copyright holder for this preprint (which was not peer-reviewed) is the . https://doi.org/10.1101/2020.04.05.026633 doi: bioRxiv preprint Considering this class of ACE2 variants as a group, their estimated aggregate prevalence is 3.9 215 per 1000 males and 8.5 per 1000 females. Rare deleterious X-linked alleles will be depleted in live 216 male adults, and observed disproportionately among heterozygous carrier females. Thus, the 217 observation that this class of alleles is more than twice as common among females as in males may 218 reflect some degree of historical selection against these alleles. We went on to calculate subpopulation-219 specific frequencies by sex, as .vcf files downloadable from the gnomAD interface provide the 220 breakdown of exomes and genomes by subpopulation and by sex. rs4646116 (p.Lys26Arg) is found at The CADD scores among this class of alleles range from 0.017 to 24.9. We provide these 239 scores here for interest. LIST scores for predicting the deleteriousness of all possible missense ACE2 240 alleles are available at https://list.msl.ubc.ca/proteins/Q9BYF1. We offer the caveat that scores of 241 deleteriousness are difficult to interpret in this context, because they are not based on specific 242 characteristics of a protein's ability to bind to coevolved (or in this case, newly-evolved) partners. 243

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