Key result
Insertion of GFP into the RyR2 NH2-terminal mutation hot spot localized this region between domains 5 and 9 in the clamp-shaped structure, close to a central disease-causing mutation site.
The NH2-terminal mutation hot spot in the cardiac ryanodine receptor localizes to the clamp region, providing structural insights into its role in cardiac arrhythmias.
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Structural insights into RyR2 mutation hotspot leave open targeted therapies; hypothesis-generating for arrhythmia mechanisms pending clinical validation.
Wang et al. (2007) studied Cardiac arrhythmias and sudden death (associated with RyR2 mutations). GFP insertion after Ser-437 in RyR2 sequence (RyR2(S437-GFP)) vs. Wild type (wt) RyR2 was evaluated on Location of the NH2-terminal mutation hot spot in the three-dimensional structure of RyR2. Insertion of GFP into the RyR2 NH2-terminal mutation hot spot localized this region between domains 5 and 9 in the clamp-shaped structure, close to a central disease-causing mutation site.
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