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We found that the distribution of deleterious variants in ACE2 differs among 9 populations in gnomAD (v3). Specifically, 39% (24/61) and 54% (33/61) of deleterious variants in ACE2 occur in African/African-American (AFR) and Non-Finnish European (EUR) populations, respectively (Fig. 1b). Prevalence of deleterious variants among Latino/Admixed American (AMR), East Asian (EAS), Finnish (FIN), and South Asian (SAS) populations is 2–10%, while Amish (AMI) and Ashkenazi Jewish (ASJ) populations do not appear to carry such variants in ACE2 coding regions (Fig. 1b). Specifically, several variants, including p.Met383Thr, p.Pro389His, and p.Asp427Tyr, have been reported to slightly inhibit the interaction between ACE2 and the spike protein of SARS-CoV-1 [10], which caused the first global SARSCoV-1 outbreak. Only AFR populations carry p.Met383Thr and p.Asp427Tyr variants, with allele frequencies of 0.003% and 0.01%, respectively (Fig. 1b). The p.Pro389His only occurs in the AMR populations, with an allele frequency of 0.015%. The p.Arg514Gly is a low allele frequency (0.003%) variant in AFR populations and is also somatically mutated in colon cancers and Hou et al. BMC Medicine (2020)

https://oadoi.org/10.1186/s12916-020-01673-z

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