Figure 2
From: Atypical skeletal manifestations of rickets in a familial hypocalciuric hypercalcemia patient
Genetic analysis of CaSR in the proband and his parents. (a) Mutation analysis revealed a missense mutation of exon 7 (c.2279T>A, p.I760N) on the CaSR in the proband and his father (b, c). Sequences of his mother were normal. (d) Prediction of the impact of p.I760N mutation on the structure and function of the CaSR protein using PolyPhen2.
