Table 1.
ACE2 missense variants in the Middle East and gnomAD populations.
| Variant ID | Protein Consequence |
Minor Allele Frequency |
Functional Risk Prediction (Scores) |
||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Kuwait | Iran | Qatar | Europe | East Asia | Africa | SIFT | PP2HVAR | PP2HDIV | MUTTASTER | LRT | CADD | ||
| rs372923812 | I741V | 0 | 0 | 0.00655 | 0.00009 | 0 | 0.00005 | T (0.32) | B (0.004) | B (0.001) | N (0.07) | N (0.005) | 0.066 |
| rs4646116 | K26R | 0.00209 | 0 | 0 | 0.00587 | 0.00007 | 0.00095 | T (0.47) | B (0.001) | B (0.0) | N (0.31) | N (0.83) | 8.188 |
| rs200540199 | R716H | 0.00105 | 0 | 0 | 0.00014 | 0 | 0 | D (0.02) | B (0.277) | P (0.771) | N (0.03) | N (0.207) | 11.52 |
| rs769062069 | R708Q | 0 | 0.00188 | 0 | 0.00002 | 0 | 0 | D (0.00) | D (0.935) | D (0.999) | D (0.99) | D (0.00) | 24.9 |
| rs776995986 | R708W | 0.00105 | 0.00584 | 0 | 0.00004 | 0 | 0 | D (0.00) | D (0.997) | D (1.00) | D (1.00) | D (0.00) | 22.9 |
| rs765152220 | D494V | 0 | 0.00063 | 0 | 0.00005 | 0 | 0 | D (0.01) | D (0.926) | D (0.995) | D (1.00) | D (0.00) | 31 |
| rs750145841 | Y199C | 0 | 0.00125 | 0 | 0.00002 | 0 | 0 | T (0.08) | D (0.984) | D (1.0) | D (0.98) | D (0.0004) | 26.2 |
| rs759162332 | Q60R | 0 | 0.00125 | 0 | 0.00003 | 0 | 0 | T (0.21) | B (0.009) | B (0.001) | N (0.20) | N (0.23) | 15.34 |
| rs41303171 | N720D | 0.00314 | 0.00625 | 0.00204 | 0.02521 | 0 | 0.00269 | T (0.07) | B (0.02) | B (0.006) | N (0.20) | N (0.009) | 14.9 |
| X:15580089∗ | I786T | 0 | 0.00188 | 0 | 0 | 0 | 0 | T (0.18) | B (0.088) | B (0.297) | N (0.00) | U (0.001) | 6.519 |
| X:15582247∗ | P737A | 0.00314 | 0 | 0 | 0 | 0 | 0 | D (0.01) | B (0.210) | P (0.489) | N (0.00) | U (0.953) | 2.44 |
| X:15585864∗ | Q661P | 0.00105 | 0 | 0 | 0 | 0 | 0 | D (0.02) | B (0.30) | P (0.812) | N (0.00) | U (0.3) | 22.9 |
| X:15589919∗ | F555L | 0.00105 | 0 | 0 | 0 | 0 | 0 | T (0.09) | B (0.145) | B (0.16) | N (0.00) | U (0.223) | 8.825 |
| X:15591578∗ | V485L | 0 | 0.00188 | 0 | 0 | 0 | 0 | T (0.10) | P (0.56) | B (0.028) | N (0.00) | U (0.63) | 23.7 |
| X:15593877∗ | F452V | 0 | 0.00083 | 0 | 0 | 0 | 0 | D (0.03) | B (0.038) | B (0.189) | N (0.00) | U (0.004) | 26.3 |
| X:15596394∗ | A372G | 0.00209 | 0 | 0 | 0 | 0 | 0 | D (0.05) | B (0.049) | B (0.437) | N (0.00) | U (0.001) | 25.4 |
| X:15599413∗ | T334M | 0 | 0.00188 | 0 | 0 | 0 | 0 | T (0.11) | B (0.026) | B (0.01) | N (0.00) | U (0.084) | 12.87 |
| X:15599422∗ | S331F | 0 | 0.00083 | 0 | 0 | 0 | 0 | D (0.00) | P (0.944) | B (0.006) | N (0.00) | U (0.344) | 24.6 |
| X:15607489∗ | D225G | 0 | 0.00125 | 0 | 0 | 0 | 0 | T (0.37) | B (0.007) | B (0.002) | N (0.00) | U (0.03) | 26.1 |
SIFT (Sorting Intolerant From Tolerant): D = damaging, T = tolerated.
PP2HVAR (PolyPhen-2 Polymorphism Phenotyping v2 HumVar): D = probably damaging, P = possibly damaging, B = benign.
PP2HDIV (PolyPhen-2 Polymorphism Phenotyping v2 HumDiv): D = probably damaging, P = possibly damaging, B = benign.
MUTTASTER (MutationTaster): A = disease causing automatic, D = disease causing, N = polymorphism, P = polymorphism automatic.
LRT (Likelihood Ratio Test): D = deleterious, N = Neutral, U = unknown.
CADD - Combined Annotation Dependent Depletion based scores.
The missense variants were defined as deleterious when predicted to be damaging, probably damaging, disease causing and deleterious by the five algorithms applied (SIFT, PolyPhen-2 HumVar, PolyPhen-2 HumDiv, MutationTaster and LRT score) and/or CADD score of more than 20. We considered only deleterious variants with minor allele frequency less than 1% in the burden analysis.
Denotes Novel variants presented with chromosome: position (based on the human reference genome build GRCh37/hg19).