TABLE 1

Human GABA_A receptor mutations in neurologic disorders

All missense mutations with a frequency of <1% as well as stop codons and splice junction mutations are included. Total indicates the number of published de novo or inherited mutations in each subunit. Many mutations have more than one phenotype.

Gene, Subunit	Total	RVIS^{^a}	AD	ASD	DD/MR	Epi	SZ	ADD
		%
GABRA1, α1	13	24	0	0	0	12	1	0
GABRA2, α2	11	34	0	1	1	0	0	9
GABRA6, α6	3	68	0	0	0	0	2	1
GABRB2, β2	7	15	0	2	0	0	5	0
GABRB3, β3	7	22	0	1	0	5	0	1
GABRG1, γ1	4	12	0	0	0	0	0	4
GABRG2, γ2	9	25	0	0	0	8	1	0
GABRG3, γ3	2	46	1	1	0	0	0	0
GABRR2, ρ2	6	59	0	1	0	0	0	5
GABRD, δ	2	59	0	0	0	2	0	0
Total	64		1	6	1	27	9	20

AD, Alzheimer’s disease; ADD, addiction; ASD, autism spectrum disorder; DD, developmental delay; Epi, epilepsy; MR, mental retardation; SZ, schizophrenia.
↵^a RVIS is the residual variation intolerance score in percentile, for which lower numbers reflect genes less tolerant to mutation (see dataset S2 in Petrovski et al., 2013; http://www.plosgenetics.org/article/fetchSingleRepresentation.action?uri=info:doi/10.1371/journal.pgen.1003709.s002; see Supplemental Table S1 for references).