Characterization of ACE2 naturally occurring missense variants: impact on subcellular localization and trafficking

Table 1 ACE2 missense coding variants predictions by different computational tools

ACE2 mutant	SNP	AA substitution		SIFT		PROVEAN		HumanDiv PolyPhen.2		HumanVar PolyPhen.2		Mutation taster
ACE2 mutant	SNP	AA substitution	gnomAD allele frequency	Effect	Score	Prediction	Score	Prediction	Score	Prediction	Score	Prediction
c.2353G>A	rs373153165	D785N	3.867e− 05	APF	0.00	Neu	− 0.416	Ben	0.102	Ben	0.001	Pol
c.2302C>T	rs140016715	R768W	1.385e−05	APF	0.00	Del	− 2.822	Dam	1	Pro Dam	0.996	DC
c.2258T>C	NA	I753T	NA	APF	0.01	Neu	− 0.763	Dam	0.887	Dam	0.62	Pol
c.2191C>T	rs147311723	L731F	0.001	APF	0.00	Neu	− 1.124	Pro Dam	0.975	Dam	0.695	DC
c.2191C>A	NA	L731I	NA	APF	0.00	Neu	− 0.669	Ben	0.443	Dam	0.45	Pol
c.2179A>G	NA	I727V	NA	APF	0.00	Neu	− 0.421	Ben	0.011	Ben	0.044	Pol
c.2129G>A	rs370187012	R710H	3.912e−05	APF	0.00	Neu	− 1.788	Pro Dam	1	Pro Dam	1	DC
c.2122C>T	rs776995986	R708W	6.918e−06	APF	0.00	Del	− 3.105	Pro Dam	1	Pro Dam	0.998	Pol
c.2074 T>C	rs149039346	S692P	0.0003776	APF	0.02	Neu	− 1.260	Dam	0.678	Dam	0.578	Pol
c.1913A>G	rs183135788	N638S	0.0002628	APF	0.03	Neu	− 1.242	Ben	0.226	Ben	0.041	Pol
c.1880C>T	rs748163894	A627V	1.095e−05	Tol	0.09	Neu	− 1.532	Dam	0.888	Ben	0.279	DC
c.1724G>T	NA	G575V	NA	APF	0.00	Del	− 8.358	Dam	1	Dam	0.984	DC
c.1501G>A	rs140473595	A501T	1.259e−05	Tol	0.09	Neu	− 2.025	Dam	0.858	Ben	0.235	DC
c.1402A>G	rs191860450	I468V	0.001	Tol	0.44	Neu	− 0.339	Pro Dam	0.966	Dam	0.793	DC
c.1149G>A	NA	M383I	NA	Tol	0.11	Neu	− 2.431	Pro Dam	0.992	Pro Dam	0.957	DC
c.517G>A	rs754511501	G173S	2.182e−05	APF	0.02	Del	− 5.891	Pro Dam	0.962	Dam	0.82	DC
c.97A>G	NA	N33D	NA	Tol	0.34	Neu	− 1.225	Ben	0.054	Ben	0.059	DC
c.55 T>C	rs73635825	S19P	0.0002518	Tol	0.18	Neu	− 0.757	Dam	0.767	Dam	0.74	Pol

Tol, tolerated; APF, affect protein function; Neu, neutral; Del, deleterious; Ben, benign; Dam, possibly damaging; Pro Dam, probably damaging; Pol, polymorphism; DC, disease causing; NA, not available

ISSN: 1479-7364