Table 1.

Summary of studied mutations in the hNCC gene among patients with Gitelman’s syndromea

MutationAmino Acid ChangeRef.FunctionGlycosylationLocation
a The evaluated mutations and their distinctive characteristics are presented. Function refers to the presence of metolazone-sensitive 22Na+ uptake, glycosylation indicates the presence of complex glycosylated bands of 130 to 140 kD, and location specifies the presence of immunopositive staining for the human NaCl cotransporter (hNCC) at the plasma membrane (PM) or cytoplasm (CP). The accession number for hNCC is AC012181.
bThis study.
Wild-typeYesYesPM
644T→CL215P(28)YesYesPM + CP
1315G→AG439S(29)NoNoCP
1606T→ CF536LbYesYesPM + CP
1971C→GT649R(28)NoNoCP
2221G→ AG741R(8)NoNoCP
2864G→AR955Q(8)YesYesPM + CP
2938G→AG980RbYesYesPM + CP
2954G→AC985YbYesYesPM + CP