Table 2.
CFTR Loss-of-Function (LOF) alleles in not-hospitalized patients.
| Nucleotide Change |
Amino Acid Change |
dbSNP | CADD | gnomAD_ NFE |
Cis/ Trans |
Residual Allele Activity (%) |
Global Residual Activity (%) |
N. of Patients |
Clinical Category |
Age | Sex | Long-COVID (Yes/No) |
Patient ID | IPGS |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Complex Allele 1 * | Complex Allele 1 * | rs115545701; rs11971167; rs138338446 |
24; 34; 27 |
0.0003; 0.0001; 0.0002 |
cis | 23.1 | 61.6 | 1 | 6 | 38 | M | NA | P11 | −170 |
| WT | WT | n.a. | n.a. | n.a. | 100 ^ | |||||||||
| Complex allele 2 # |
Complex allele 2 # |
rs1800112; rs113993960 | 17; na |
0.003; 0.0123 | cis | 10.2 | 55.1 | 1 | 6 | 21 | F | Yes | P12 | −22 |
| WT | WT | n.a. | n.a. | n.a | 100 ^ | |||||||||
| c.1516A>G | p.I506V | rs1800091 | 24 | 0.0005 | trans | 85.7 | 90.7 | 1 | 6 | 43 | F | NA | P13 | −32 |
| c.2421A>G | p.I807M | rs1800103 | 22 | 0.0006 | 95.7 |
* Complex allele 1 = c.[220>T; 3808G>A; c.601G>A], p.[R74W;D1270N; V201M]. # Complex allele 2 = c.[3080T>C; c.1520_1522del], p.[I1027T; F508del]. CADD, combined annotation dependent depletion; GnomAD, genome aggregation database; NFE, non-Finnish European; residual allele activity: percentage of the residual activity of the single alleles; Global residual activity: percentage of the residual activity of the protein; Clinical category: 1, death; 2, hospitalized, receiving invasive mechanical ventilation; 3, hospitalized, receiving continuous positive airway pressure (CPAP) or bilevel positive airway pressure (BiPAP) ventilation; 4, hospitalized, receiving low-flow supplemental oxygen; 5, hospitalized, not receiving supplemental oxygen; 6, not hospitalized. IPGS: integrated polygenic score for severity prediction ([20] Fallerini et al. 2022) ^ totally conserved activity of the wild-type allele.