Structural Defect
The figure on the right is the tertiary structure for sodium ion channel protein encoded by SCN5A gene
The figure on the right is the tertiary structure for sodium ion channel protein encoded by SCN5A gene
The figure on the left is the tertiary structure for the K126E mutated sodium channel protein encoded by SCN5A gene
Superimposed images of the above proteins. The membrane-spanning components are intact but changes can be seen in the mutated structure of the loops that are an important component of the pores that transport ions. Change from positively charged Lysine residue to negatively charged Glutamic acid might also play a role in disease pathology.