A noteworthy observation is that even though there are clinical cases showing mixed neuropathy and skeletal phenotypes due to TRPV4 gain-of-function mutant R616G [104], an intriguing observation emerges when examining different mutants linked to distinct disease types: mutations associated with skeletal diseases are found distributed across the entire protein length, those tied to peripheral neuropathies tend to concentrate on the N-terminus of the channel [26]. Here, TRPV4 is linked to peripheral neuropathy.