Activating missense mutations in which among the following genes lead to the syndrome of nephrogenic inappropriate antidiuresis?
Activating missense mutations in which among the following genes lead to the syndrome of nephrogenic inappropriate antidiuresis? Correct Answer AVPR2 of arginine 137
Activation of arginine 137 missense mutations in AVPR2 leads to the nephrogenic syndrome of inadequate antidiuresis. This is part of the DRY motif retained in most Family 1 GPCRs at the intracellular boundary of transmembrane helix 3.
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Feb 20, 2025