Table 2. TLR7 variants in severely affected Italian males -all ages- (cases).
| Nucleotide change | Amino acid change | dbSNP | CADD | ExAC_ NFE |
Function* | N. of patients | Clinical category† | Age | Cohort | Patient ID |
|---|---|---|---|---|---|---|---|---|---|---|
| c.901T>C | Ser301Pro | - | 26.4 | N/A | LOF | 1 | 3 | 46 | Italian | P3 |
| c.2759G>A | Arg920Lys | rs189681811 | 16.52 | 0.0002 | LOF‡ | 1 | 4 | 49 | Italian | P6 |
| c.3094G>A | Ala1032Thr | rs147244662 | 22.3 | 0.0006 | LOF | 2 | 3 | 65/66 | Italian | P7/P8 |
| c.655G>A | Val219Ile | rs149314023 | 12.28 | 0.0003 | HYPO | 1 | 4 | 32 | Italian | P1 |
| c.863C>T | Ala288Val | rs200146658 | 15.37 | 0.000012 | Neutral | 1 | 3 | 57 | Italian | P2 |
| c.1343C>T | Ala448Val | rs5743781 | 13.08 | 0.00465 | Neutral | 2 | 3 | 53/58 | Italian | P4/P5 |
CADD, Combined Annotation Dependent Depletion; ExAC, Exome Aggregation Consortium; NFE, Non-Finnish European;.
*Function: HYPO, hypomorphic; LOF, loss-of-function;.
†Clinical category: 4, Hospitalized and intubated; 3, Hospitalized and CPAP-BiPAP and high-flows oxygen treated; 2, Hospitalized and treated with conventional oxygen support only; 1, Hospitalized without respiratory support; 0, Not hospitalized oligo/asymptomatic individuals.
‡based on in silico prediction.