TABLE 1.
Overview of reported IRAK2 non-synonymous SNPs
For an overview of IRAK2 functional domains, see Ref. 4. Frequency is according to NCBI across all studies carried out so far. Boldface type highlights rs35060588 investigated here in detail.
| Amino acid exchange | rs number | Average frequency | Location |
|---|---|---|---|
| R43Q | 34945585 | 0.0005 | Death domain |
| S47Y | 11465864 | 0.01 | Death domain |
| L78M | 11709928 | Unknown | Death domain |
| I99V | 55898544 | 0.01 | Linker/ProST region |
| R214G | 35060588 | 0.04 | Kinase domain |
| L358M | 77590560 | 0.001 | Kinase domain |
| L392V | 3844283 | 0.30 | Kinase domain |
| D431E | 708035 | 0.21 | Kinase domain |
| L439V | 11465927 | 0.015 | Kinase domain |
| R498G | 75132222 | 0.08 | C terminus |
| E501G | 12486661 | 0.001 | C terminus |
| L503I | 9854688 | 0.03 | C terminus |