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. Author manuscript; available in PMC: 2010 Aug 1.
Published in final edited form as: Nat Genet. 2009 Dec 27;42(2):170–174. doi: 10.1038/ng.512

Figure 4.

Figure 4

The R269C and R269H mutations are located in the ankyrin repeat domain (ARD) of the TRPV4 protein. a) Primary structure of the TRPV4 protein, with the positions of the CMT2C (R269; blue arrowhead) and skeletal dysplasia6–7 (green arrowheads) mutations indicated below. b) Ribbon diagram of the chicken TRPV4 ARD, with the location of the R269 residue (R255 in chicken sequence) depicted as a blue sphere, and the I331 and D333 residues (I317 and D319 in chicken sequence, respectively) previously shown to be mutated in skeletal dysplasia as green spheres. c) Surface representation of the TRPV4 ARD with R269 in blue and I331 and D333 in green. Residues that differ between chicken and human TRPV4 are yellow, demonstrating that the palm and fingers regions are conserved.