Mutations and Polymorphisms in the
Schema of the CASR (which has 1078 amino acids) showing the
relationship between gene exons (II to VII) and the portions of the protein they
Exons II to VI and the beginning of exon VII encodes the ECD of ~610 amino
acids, exon VII encodes the TMD of ~250 amino acids including membrane-spanning
helices TM1-TM7 (indicated by the hatched boxes), ECL1 to ECL3, ICL1 to ICL3,
and the ICD of ~200 amino acids. (Abbreviations: ECD, extracellular domain; TMD,
transmembrane domain; TM, membrane-spanning helix; ECL, extracellular loop; ICL,
intracellular loop; ICD, intracellular domain).
The locations of the inactivating mutations found in patients with FHH and/or
NSHPT (as well as polymorphisms A/T826, C/S851, A/S986, R/G990, and Q/E1011) are
shown above and of activating mutations found in patients with ADH below the
bars representing the protein-coding exons.