Table 2.

Total protein length and affected regions of α-frameshift mutations that are verified to occur in PHA1B patients.

Mutant (protein)	Truncated protein length (AA)	Affected region	Domain location in homology model of mouse α-ENaC (32)	Mutation in patient (DNA)	First published in
αI68fs	142	Exon 2 cytoplasmic	Intracellular	203delTC	(33)
αT169fs	203	Exon 3 extracellular loop	Finger	505delAC	(34)
αP197fs	204	Exon 3 extracellular loop	Finger	587-588insC	(35)
αE272fs	309	Exon 4 extracellular loop	Finger	814-815insG	(36)
αF435fs	480	Exon 8 extracellular loop	Thumb	1305delC	(34)
αR438fs	480	Exon 8 extracellular loop	Thumb	1311delG	(36)
αY447fs	458	Exon 8 extracellular loop	Thumb	1340insT	(37)
αR448fs	459	Exon 8 extracellular loop	Thumb	1342-1343insTACA	(35)
αS452fs	480	Exon 8 extracellular loop	Thumb	1356delC	(38)
αT482fs	495	Exon 10 extracellular loop	Palm	1449delC	(39)