Table 2.
Enrichment of patient-ascertained pathogenic-reported genetic variation in M2 pore loop in GRIN1, GRIN2A, and GRIN2B
| M2 region missense (subset of total) |
Total missense |
P-value* | ||||
|---|---|---|---|---|---|---|
| Residues | gnomAD | Disease | gnomAD | Disease | ||
| GRIN1 | D599-E621 | 0 | 2 | 171 | 15 | 0.0061 |
| GRIN2A | G596-V619 | 3 | 3 | 645 | 18 | 0.0003 |
| GRIN2B | G597-V620 | 1 | 7 | 442 | 23 | 2.1×10−9 |
*
Fisher’s exact test, αcorrected = .016
gnomAD data based on release 2.1 (excluding filtered out variants). GRIN1 = NP_015566, GRIN2A = NP_000824 and GRIN2B = NP_000825. The total disease-related missense variants were from missense de novo variants in Swanger 2016, and were topped up with additionally published mutations since then adopting the same criteria(Swanger et al., 2016).