. Author manuscript; available in PMC: 2013 Sep 8.

Published in final edited form as: Nat Genet. 2008 Apr 6;40(5):592–599. doi: 10.1038/ng.118

Table 1.

Proven and inferred mutations in NCCT, NKCC2 and ROMK in FHS.

Variant	Phylogenetic conservation of wild type residue	Allele frequency in FHS unrelateds	Allele frequency in European Caucasian disease patients	Biochemical loss of function 18-22	SIFT/Polyphen
NCCT
E112X^*	disruptive	0.00025	0.0039	yes	NA
L155F	complete	0.00025	0	−	++/+
S188F	complete	0.00025	0	−	++/++
A232T	complete	0.00050	0	−	++/+
R261C^*	complete	0.00050	0	−	++/++
R399L^*	vertebrate	0.00025	0.0078	yes	++/++
G439S^*	complete	0.00050	0.0391	yes	++/++
F495L	complete	0.00025	0	−	++/++
P560H^*	complete	0.00025	0	−	++/++
G613S^*	complete	0.00025	0.0039	yes	++/++
G741R^*	complete	0.00050	0.1211	yes	++/++
G779E	complete	0.00025	0	−	++/++
R861C^*	vertebrate	0.00025	0.0195	−	++/+
R964Q^*	vertebrate	0.00025	0.0117	yes	++/++
G989R^*	vertebrate	0.00025	0.0156	yes	−/+

NKCC2
T235M	complete	0.00025	0	−	++/++
P254A	complete	0.00025	0	−	++/++
R302-FS^*	disruptive	0.00025	0.0069	yes	NA
R302W	complete	0.00025	0	−	++/++
P348L	complete	0.00025	0	−	++/++
N399S	vcomplete	0.00050	0	−	++/++
L505V	complete	0.00025	0	−	++/+
P569H	complete	0.00025	0	−	++/++
Y1070C	complete	0.00025	0	−	++/++
P1083A	complete	0.00025	0	−	++/++

ROMK
P166S	complete	0.00025	0	−	++/+
R169H	complete	0.00025	0	−	++/++
R193P	complete	0.00025	0	−	++/++
H251Y	complete	0.00050	0	yes	++/++
T313-FS^*	disruptive	0.00025	0.0104	yes	NA

++: probably damaging (PolyPhen) or deleterious (SIFT); +: possibly damaging or deleterious/low confidence; −: benign or tolerated.

Previously reported as disease-causing.