Table 1.
GABR variants identified from screening of 279 individuals with epilepsy
| Gene | Varianta | mRNA reference | Protein change | Domain | gnomADb | PolyPhen-2c | SIFTc |
|---|---|---|---|---|---|---|---|
| GABRA1 | 5:161281174 C/T | NM_000806.5 | p.P29S | NT | 10 | Benign | Tolerated |
| GABRA2 | 4:46264127 G/T | NM_000807.2 | p.T292K | M2 | 0 | Probably damaging | Deleterious |
| GABRA2 | 4:46252550 A/T | NM_000807.2 | p.N377K | CL | 7 | Benign | Tolerated |
| GABRA6 | 5:161113962 A/G | NM_000811.2 | p.T60A | NT | 30 | Probably damaging | Deleterious |
| GABRA6 | 5:161115980 G/A | NM_000811.2 | p.R84H | NT | 17 | Probably damaging | Tolerated |
| GABRA6 | 5:161119035 G/A | NM_000811.2 | p.W305X | M3 | 3 | - | - |
| GABRA6 | 5:161128559 T/C | NM_000811.2 | p.I381T | CL | 36 | Benign | Tolerated |
| GABRB2 | 5:160753448 C/T | NM_021911.2 | p.R373Q | CL | 17 | Benign | Tolerated |
| GABRB3 | 15:26806257 G/A | NM_000814.5 | p.P301L | M2-M3 | 0 | Probably damaging | Deleterious |
| GABRD | 1:1961528 G/C | NM_000815.4 | p.G389A | CL | 5 | Benign | Tolerated |
| GABRG1 | 4:46060315 T/C | NM_173536.3 | p.I279V | M1 | 4 | Benign | Tolerated |
| GABRG2 | 5:161530954 G/A | NM_000816.3 | p.D231N | NT | 4 | Probably damaging | Deleterious |
| GABRR2 | 6:90024892 ACATCTGTGAGG/A | NM_002043.3 | p.L20Pfs*44 | SP | 0 | - | - |
| GABRR2 | 6:89978866 C/T | NM_002043.3 | p.D126N | NT | 219 | Probably damaging | Deleterious |
| GABRR2 | 6:89977789 A/C | NM_002043.3 | p.M180R | NT | 95 | Probably damaging | Deleterious |
| GABRR2 | 6:89975361 C/T | NM_002043.3 | p.R287H | M1-M2 | 138 | Possibly damaging | Tolerated |
| GABRR2 | 6:89974256 C/T | NM_002043.3 | p.V321I | M2-M3 | 176 | Benign | Tolerated |
| GABRR2 | 6:89974162 T/C | NM_002043.3 | p.Q377R | CL | 951 | Benign | Tolerated |
| GABRR2 | 6:89967489 C/T | NM_002043.3 | p.R433H | CL | 975 | Benign | Tolerated |
aGenomic positions are relative to the GRCh37/hg19 human genome assembly.
bNumber of times the allele was observed in the gnomAD database of ∼277 200 alleles.
cPolyPhen-2 and SIFT prediction algorithms only score missense variants.
Genes in bold highlight variants that were functionally evaluated. CL = cytoplasmic loop between M3 and M4 transmembrane domains; M1-M2 = linker between M1 and M2 transmembrane domains; M2-M3 = linker between M2 and M3 transmembrane domains; NT = N-terminal; SP = signal peptide.