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Nonsynonymous ACE2 Variations by Population

This graphic shows the distribution of 61 potentially harmful ACE2 polymorphisms by population using variant assembly of databases, annotation of non-synonymous polymorphisms, and predictive-deleterious scoring.

  • databases: Genome Aggregation Database, Exome Sequencing Project, and 1000 Genomes Project (1KGP, www.internationalgenome.org)
  • non-synonymous variant annotation: ANNOVAR
  • deleterious assessment: CADD and Polyphen2

The top bar shows ACE2 functional domains, and the vertical notches represents population counts of the respective variant. The heat map depicts polymorphism frequencies found within the different populations.

  • 39% of variations occur in African/African-American (AFR) populations
  • 54% of variations occur in non-Finnish European (EUR) populations
  • Amish (AMI) and Ashkenazi Jewish (ASJ) populations do not appear to have any of these polymorphisms
  • variants such as p.Arg514Gly may influence COVID-19 pathogenesis and its associated cardiovascular conditions by altering the AGT-ACE2 pathway

Population group legend: AFR, African/African-American; AMI, Amish; AMR, Latino/Admixed American; ASJ, Ashkenazi Jewish; EAS, East Asian; FIN, Finnish; EUR, Non-Finnish European; SAS, South Asian; PNA, population not assigned

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Updated 2020-08-17

Tags

SARS-CoV-2 (COVID-19)

Biomedical Sciences