Table 2.

Reported human ENaC mutations causing the autosomal recessive form of PHA-1

Subunit	Mutation	Type	Genotype Reference	Clinical Description Reference
^a NR, not reported.
α	I68 frameshift	Homozygous	106	156
	C133Y	Homozygous	54, 139	Lifton RP, personal communication
	S483 frameshift	Homozygous	119	119
	R492 stop	Homozygous	Bonny O, manuscript in preparation	Bonny O, manuscript in preparation
	R508 stop	Homozygous	106, 118	2,115,157
	R56 stop and R139 deletion	Compound heterozygous	118	NR^a
	T168 frameshift and F435 frameshift	Compound heterozygous	118	NR
	S243 frameshift and S483 frameshift	Compound heterozygous	119	116
	S562L and S483 frameshift	Compound heterozygous	119	119
β	G37S	Homozygous	106	106
	T216 frameshift and D305 frameshift
		Compound heterozygous	118	NR
γ	KYS106–108→N and 134stop	Homozygous	131	130
	V543 frameshift and acceptor splice site mutation exon 13	Compound heterozygous	153	153