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Table 1 Characterization of putative deleterious missense variants in ACE2

From: Investigation of the genetic variation in ACE2 on the structural recognition by the novel coronavirus (SARS-CoV-2)

rsID Position (hg19) Ref Alt AA changea Enrichedh AF Df Sg
Combined African Latino Asianb Europeanc Europeand Asiane
rs147311723 15582265 G A Leu731Phe N/A 1.4 × 10−3 0.014 4.8 × 10−4 0 0 3.3 × 10−5 0 6 N
rs148771870 15607532 C T Gly211Arg N/A 1.3 × 10−3 2.7 × 10−4 2.1 × 10−4 0 1.6 × 10−3 1.9 × 10−3 1.9 × 10−3 2 Y
rs191860450 15593829 T C Ile468Val N/A 8.4 × 10−4 0 0 0.011 0 2.2 × 10−5 5.6 × 10−5 4 Y
rs149039346 15584416 A G Ser692Pro N/A 5.6 × 10−4 5.8 × 10−3 3.6 × 10−5 0 0 2.2 × 10−5 5.3 × 10−5 4 N
rs138390800 15599392 T C Lys341Arg N/A 4.0 × 10−4 3.9 × 10−3 1.8 × 10−4 0 0 0 0 2 Y
rs372272603 15607508 G A Arg219Cys N/A 3.5 × 10−4 1.6 × 10−4 0 0 0 7.0 × 10−4 1.6 × 10−4 6 Y
rs73635825 15618980 A G Ser19Pro Y 3.1 × 10−4 3.3 × 10−3 0 0 0 0 0 3 Yh
rs142443432 15607546 T C Asp206Gly N/A 3.0 × 10−4 1.1 × 10−4 3.6 × 10−5 0 0 6.3 × 10−4 0 2 Y
rs751603885 15584401 T C Arg697Gly N/A 2.5 × 10−4 0 0 0 0 0 2.4 × 10−3 4 N
rs373025684 15590348 G C Ser547Cys N/A 2.1 × 10−4 0 1.4 × 10−4 0 5.4 × 10−5 3.9 × 10−4 0 6 Y
rs142984500 15596376 T C His378Arg Y 8.8 × 10−5 0 0 0 0 1.9 × 10−4 0 6 Yh
rs759590772 15607507 C T Arg219His NA 9.8 × 10−5 0 0 0 0 1.2 × 10−5 8.9 × 10−4 5 Y
  1. “a”: AA refers to amino acid
  2. “b”: East Asian
  3. “c”: Finnish
  4. “d”: European not including Finnish
  5. “e”: South Asian
  6. “f”: Number of tools predicted the variant to be deleterious; the top four variants with predicted functional disruptions highlighted in bold
  7. “g”: “Y” refers to The variant likely affecting the protein structure of ACE2, otherwise “N”
  8. “h”: Deep mutagenesis experimental data to show Ser19Pro and His378Arg interactions with SARS-Cov-2 virus from the previous literature [16]
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Journal of Translational Medicine

ISSN: 1479-5876

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