Nuclear magnetic resonance studies of mutations at the tetramerization region of human alpha spectrin.

Abstract excerpt

Many spectrin mutations that destabilize tetramer formation and lead to hereditary hemolytic anemias are located at the N-terminal region of alpha-spectrin, with the Arg28 position considered to be a mutation hot spot. We have introduced mutations at positions 28 and 45 into a model peptide, Sp alpha 1-156, consisting of the first 156 residues in the N-terminal region of alpha-spectrin (alpha N). The association...

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