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. Author manuscript; available in PMC: 2019 Sep 30.
Published in final edited form as: Best Pract Res Clin Endocrinol Metab. 2018 May 26;32(5):609–619. doi: 10.1016/j.beem.2018.05.004

Table 1.

Calcium-sensing receptor mutations and associated phenotypes.

Gene Protein Type of Mutation Resulting Phenotype
CASR CaSR Inactivating
Activating		 FHH1, NSHPT
ADHH, ADH1, Bartter’s syndrome type V
GNA11 G-protein subunit α11 Inactivating
Activating		 FHH2
ADH2
AP2S1 Adaptor-related protein complex 2, sigma 1 subunit Inactivating FHH3