Figure 7
From: A large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs
(a) Homology structure of the Chloride Channel protein 1 (Swine_CLC-1) in pigs. The tertiary structures of one subunit of the human (PDB – 6QVC - chain A) and swine CLC-1 homodimers are represented in magenta and cyan, respectively. The two subunits were also superimposed for comparison. Note the high similarity between the human model and the predicted structure in pigs. Gray arrows represent the membrane boundaries. (b) Tertiary structures of one subunit of CLC-1 homodimer in pigs. The consensus amino acids sequence between non-myotonic and myotonic animals is indicated in blue. The 116 amino acids deleted in myotonic animals are indicated in red. 1 - The deleted region in myotonic pigs spans from the C-terminal half of the α-helix O to the N-terminal half of the first CBS domain. 2 - The small yellow region within the α-helix R indicates the intracellular conserved tyrosine residue. 3 – Magnification of the tertiary structure indicated in 2.
