Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.

For the autosomal dominant BD- and, in particular, the ADVIRC-associated mutations there is an apparent trend towards a location of the mutations around the neck and the structurally adjacent flexible helices [ 20 ] ( Figure 1 ) implicating an important role of these amino acids in the ion gating processes.

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