TABLE 1

Summary of human adrenoceptor variants whose impact on receptor function has been assessed

Data are derived from the Exome Variant Server of the National Institutes of Health National Heart, Lung, and Blood Institute Exome Sequencing Project (2013).

Gene	dbSNP	Position		Major/Minor Allele		MAF
Gene	dbSNP	CDS	Protein	Codon	Amino Acid	European Americans	African Americans
α₁-Adrenoceptor
ADRA1A	rs61757009	460	154	TCC/GCC	Ser/Ala	0.02	0.001
	rs56233953	497	166	AGG/AAG	Arg/Lys	0.004	0.001
	rs2229125	599	200	ATC/AGC	Ile/Ser	0.02	0.004
	rs3730287	739	247	GGG/AGG	Gly/Arg	0.00	0.00
	rs1048101	1039	347	CGC/TGC	Arg/Cys	0.55	0.26
	rs2229126	1395	465	GAA/GAT	Glu/Asp	0.02	0.02
α₂-Adrenoceptor
ADRA2A	rs1800544	−1252		C/G		0.48	0.48
	rs1800035	798	266^{^a}	AAC/AAG	Asn/Lys	ND^{^b}	ND^{^b}
	rs553668	*427		G/A		0.29	0.29
	rs869244	+70 kb		G/A		0.37	0.37
	rs10885122	+203 kb		G/T		0.27	0.27
ADRA2B	rs28365031	901–909	301–303	GAAGAGGAG/-	GluGluGlu/-	ND	ND
ADRA2C	rs61767072	964–975	322–325	GGGGCGGGGCCG/-	GlyAlaGlyPro/-	0.14	0.47
β-Adrenoceptor
ADRB1	rs2782980	−22 kb		C/T		0.29	0.29
	rs1801252	145	49	AGC/GGC	Ser/Gly	0.11	0.19
	rs1801253	1165	389	CGA/GGA	Arg/Gly	0.26	0.37
ADRB2	rs1042711	−47	“−19”	TGT/CGT	Cys/Arg	0.42	0.19
	rs1042713	46	16	GGA/AGA	Gly/Arg	0.38	0.49
	rs1042714	79	27	GAA/CAA	Gln/Glu	0.42	0.18
	rs1800888	491	164	ACC/ATC	Thr/Ile	0.02	0.003
ADRB3	rs4994	190	64	TGG/CGG	Trp/Arg	0.08	0.11
	rs72655364	493	165	TCG/CCG	Ser/Pro	ND^{^c}	ND^{^c}
	rs72655365	769	257	TCT/CCT	Ser/Pro	ND^{^c}	ND^{^c}
	rs4995	794	265	ACG/ATG	Thr/Met	0.00	0.01

CDS, coding region sequence; dbSNP, single nucleotide polymorphism database; kb, kilobase; MAF, minor allelic frequency; ND, not determined (i.e., not listed in the Exome Variant Server).
↵^a Commonly described as variation at amino acid position 251.
↵^b MAF according to 1000 Genomes Browser: 0.02.
↵^c Allelic frequency in European Americans and African Americans was not determined. Variation was reported in Chinese individuals (Huang et al., 2013a).