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Calcium-sensing receptor gene mutation L173P The DNA sequence electropherogram of the index patient revealed a heterozygous mutation of nucleotide 518T>C. At the bottom, the amino acid sequence corresponding to this DNA region is shown. The identified mutation at base 518 results in a T to C transition (518T>C) which leads to a substitution of leucine 173 by proline in exon 4 (L173P). This corresponds to the extracellular domain of the CaR protein.
