Genetic Variations in the Human Angiotensin-ConvertingEnzyme 2 and Susceptibility to Coronavirus Disease-19

Table 2

The most pathogenic variants of the ACE2 gene.

Position on chromosome X

Nucleotide change

Amino acid change

dbSNP

CADD Phred

SIFT

Polyphen2

PROVEAN

Mutation taster

ExAc

1000 genomes project

ESP6500

gnomAD

Iranome

GME

15618926

c.109G > A

E37K

rs146676783

34

DE

POD

NE

DC

0.00002

NA

0.0284

0.00009

NA

NA

15591503

c.1528T > C

Y510H

rs779199005

29.2

DE

PRD

DE

DC

NA

0.0003

NA

NA

NA

NA

15609868

c.551T > C

V184A

rs75814285

28.8

DE

PRD

DE

DC

NA

NA

NA

NA

NA

NA

15596380

c.1129G > T

G377Q

NA

28.2

DE

PRD

DE

DC

NA

NA

NA

NA

NA

NA

15596361

c.1148T > C

M383T

rs1396769231

27.7

DE

PRD

DE

DC

NA

NA

NA

NA

NA

NA

The table reports the genomic position, the nucleotide, and amino acid change of the most pathogenic variants in the ACE2 gene. ¹CADD, Phred ≤20: neutral; Phred >20: damaging; ²SIFT, score ≤0.05: deleterious; score >0.05: tolerable; ³polyphen-2, score = 0–0.15: benign; score = 0.15–0.85: possibly damaging; score = 0.85–1: probably damaging; ⁴PROVEAN, score ≤ −2.5: deleterious; score > −2.5: neutral; TO: tolerable; DE: deleterious; NE: natural, DC: disease causing; NA: not available. PRD: probably damaging; POD: possibly damaging; P: polymorphism.