Table 1. P2X7 Non-synonymous SNPs.
Several P2X7 polymorphisms are listed including their location, reported functionality, and links with disease
| SNP | Characteristics |
|---|---|
| V76A | Reduced channel and pore activities (27) |
| R117W | Reduced channel and pore activities (27) |
| G150R | Reduced channel and pore activities (27) |
| H155Y | Increased channel and pore activities (27, 60) |
| A176V | Within the extracellular domain |
| E186K | Next to critical N-linked glycosylation site (13); reduced channel and pore activities (27) |
| L191P | Near critical N-linked glycosylation site (13); reduced channel and pore activites (27) |
| R270H | No change in function (66) |
| R270C | Within the extracellular domain |
| R276H | Within the extracellular domain |
| R307Q | Reduced channel and pore activities; within the ATP binding pocket; expresses on the cell surface (66, 168) |
| L320P | Within the extracellular domain |
| A348T | Increased channel and pore activities; correlated with T. gondii infection (27, 67) |
| T357S | Reduced channel and pore activities (27, 66) |
| I367T | Located in the intracellular domain near the second transmembrane domain |
| P430R | Within the intracellular domain |
| A433V | Within the intracellular domain |
| Q460R | Functionality is unclear; correlated with major depressive and bipolar disorders in some studies (62, 63, 65) |
| E496A | Reduced pore activity but may possess normal channel function; correlated with papillary thyroid cancer, tuberculosis (27, 33, 54, 58–60) |
| H521Q | Within the intracellular domain |
| V522I | Normal channel and pore activities (27) |
| R544Q | Our preliminary data suggests no change in function |
| I568N | Reduced channel and pore activity; within the C-terminal trafficking domain; does not express on the cell surface (27, 169) |
| R578Q | Previous studies and our preliminary data suggest it has reduced pore and signaling functions; within the C-terminal trafficking domain (12, 26) |