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Figure 4.
(a) Primary structure of the TRPV4 protein, with the
positions of the CMT2C-associated (Arg269; blue arrowhead) and
skeletal dysplasia–associated^6, ^7 (green arrowheads)
mutations indicated below. (b) Ribbon diagram of the chicken
Trpv4 ARD, with the location of the Arg269 residue (Arg255 in
chicken sequence) depicted as a blue sphere and the Ile331 and
Asp333 residues (Ile317 and Asp319 in chicken sequence,
respectively) previously shown to be mutated in skeletal
dysplasia as green spheres. (c) Surface representation of the
TRPV4 ARD with Arg269 in blue and Ile331 and Asp333 in green.
Residues that differ between chicken and human TRPV4 are yellow,
demonstrating that the palm and finger regions are conserved.
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