Table 1.

Somatic and germline KCNJ5, ATP1A1, ATP2B3 and CACNA1D mutations in sporadic and familial primary aldosteronism

Gene	Location	Protein	Somatic mutations	Germline mutations
KCNJ5	11q24	G protein-activated inward rectifier potassium channel 4, GIRK4 Inward rectifier K+ channel 3.4, KIR3.4	p.Trp126Arg p.Glu145Gln# p.Glu145Lys# p.insThr149 p.Gly151Arg p.Ile157del p.Thr158Ala p.Leu168Arg	p.Gly151Arg p.Gly151Glu p.Tyr152Cys p.Ile157Ser p.Thr158Ala
ATP1A1	1p21	sodium/potassium-transporting ATPase subunit alpha-1	p.Gly99Arg p.Phe100_Leu104del p.Leu104Arg p.Val332Gly p.GluGluThrAla963Ser	None
ATP2B3	Xq28	plasma membrane calcium-transporting ATPase 3, PMCA3	p.Val424_Leu425del# p.Leu425_Val426del (c.1272_1277delGCTGGT and c.1273_1278delCTGGTC) p.Val426_Val427del#	None
CACNA1D	3p14.3	Voltage-dependent L-type calcium channel subunit alpha-1D Voltage-gated calcium channel alpha subunit Cav1.3	p.Val259Asp p.Gly403Arg p.Ser652Leu# p.Leu655Pro# p.Tyr741Cys# p.Phe747Leu# p.Ile750Phe# p.Ile750Met p.Phe747Val*# p.Val979Asp# p.Arg990His# p.Lys981Asn# p.Ala998Ile# p.Ala998Val# p.Val1151Phe# p.Ile1152Asn# p.Pro1336Arg p.Val1338Met*# p.Met1354Ile#	p.Gly403Asp p.Ile770Met*

^*Mutations p.Ile750Met, p.Phe747Val and p.Val1338Met reported in Azizan et al. and Fernandes-Rosa et al. correspond to p.Ile770Met, p.Phe767Val and p.Val1373Met respectively in Scholl et al. because of the use of different reference sequences (NM_001128839.2; NM_000720.3).

^#Mutations that have not been functionally characterized