Table 1.
Details of variants in equivalent positions to the seven mutations in GABRA2 (NM_000807.2) identified in other Cys‐loop receptor genes
| Mutation in GABRA2 | Gene | Family | HGVSc | HGVSp | Equivalent position in GABRA2 | Reference SNP | References | Source |
|---|---|---|---|---|---|---|---|---|
| Met263Thr | CHRNA2 | nACh | NM_000742.3(CHRNA2):c.836T > A | Ile279Asn | 262 | rs104894063 | (Aridon et al., 2006) | ClinVar; Humsavar |
| GABRA1 | GABA‐A | NM_000806.5(GABRA1):c.788T > A | Met263Lys | 263 | rs796052491 | – | ClinVar | |
| GABRA1 | GABA‐A | NM_000806.5(GABRA1):c.789G > A | Met263Ile | 263 | rs1060499553 | (Farnaes et al., 2017) | ClinVar | |
| GABRA1 | GABA‐A | NM_000806.5(GABRA1):c.788T > C | Met263Thr | 263 | – | (Kodera et al., 2016) | Manual | |
| GABRB3 | GABA‐A | NM_000814.5(GABRB3):c.766C > G | Leu256Val | 263 | rs1555401942 | – | ClinVar | |
| GABRB3 | GABA‐A | NM_000814.5(GABRB3):c.767T > A | Leu256Gln | 263 | – | (Epi, 2016) | Humsavar | |
| Pro280Leu (−2’) | GABRG2 | GABA‐A | NM_198903.2(GABRG2):c.905C > T | Pro302Leu | 280 | – | (Hernandez et al., 2017) | Manual |
| GLRA1 | Gly | NM_001146040.1(GLRA1):c.832C > A | Pro278Thr | 280 | rs121918413 | (Saul et al., 1999) | ClinVar; Humsavar | |
| Val284Ala (2’) | CHRNA2 | nACh | NM_000742.3(CHRNA2):c.889A > T | Ile297Phe | 283 | rs1554514507 | (Conti et al., 2015) | ClinVar |
| GABRB2 | GABA‐A | NM_021911.2(GABRB2):c.830T > C | Leu277Ser | 285 | rs1554094145 | (Hamdan et al., 2017) | ClinVar | |
| GABRG2 | GABA‐A | NM_000816.3(GABRG2):c.919T > G | Leu307Val | 285 | rs796052509 | – | ClinVar | |
| Leu291Val (9’) | CHRNB1 | nACh | NM_000747.2(CHRNB1):c.853C > A | Leu285Met | 291 | rs137852811 | (Gomez et al., 1996) | ClinVar; Humsavar |
| GLRB | Gly | NM_000824.4:c.920_921ΔInsGA | Leu307Arg | 291 | – | (James et al., 2013) | Humsavar | |
| GABRA1 | GABA‐A | NM_000806.5(GABRA1):c.868G > A | Val290Met | 290 | rs796052494 | – | ClinVar | |
| GABRB2 | GABA‐A | NM_021911.2(GABRB2):c.845T > C | Val282Ala | 290 | rs886039374 | – | ClinVar | |
| GLRA1 | Gly | NM_001146040.1(GLRA1):c.862G > A | Val288Met | 290 | rs121918416 | (del Giudice et al., 2001) | ClinVar | |
| Thr292Lys | GLRA1 | Gly | NM_000171.3(GLRA1):c.869C > T | Thr290Ile | 292 | rs1064795411 | – | ClinVar |
| CHRNA4 | nACh | NM_000744.6(CHRNA4):c.851C > T | Ser284Leu | 292 | rs28931591 | (Cho et al., 2003; S. Hirose et al., 1999; Hwang et al., 2011; Kurahashi & Hirose, 2002) | ClinVar | |
| Phe325Leu | CHRNB2 | nACh | NM_000748.2(CHRNB2):c.923T > C | Val308Ala | 324 | rs281865070 | – | ClinVar |
| GABRA1 | GABA‐A | NM_000806.5(GABRA1):c.973T > C | Phe325Leu | 325 | rs1064794681 | – | ClinVar | |
| GABRB2 | GABA‐A | NM_021911.2(GABRB2):c.946G > A | Val316Ile | 324 | rs1554093884 | – | ClinVar | |
| GABRB2 | GABA‐A | NM_021911.2(GABRB2):c.950_951delTCinsCA | Phe317Ser | 325 | rs1554093882 | – | ClinVar | |
| CHRNA1 | nACh | NM_001039523.2(CHRNA1):c.988G > A | Val330Ile | 324 | rs137852804 | (H. L. Wang et al., 1999) | ClinVar |