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Lucy G. Randles, Gwen J. S. Dawes, Beth G. Wensley, Annette Steward, Adrian A. Nickson and Jane Clarke Understanding pathogenic single-nucleotide polymorphisms in multidomain proteins – studies of isolated domains are not enough FEBS Journal 280

Article first published online: 16 JAN 2013 | DOI: 10.1111/febs.12094

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We investigate pathogenic and non-pathogenic mutations occurring at the boundaries of human spectrin repeats. We show that mutations in isolated domains do not correlate with disease; however, in a tandem model system, pathogenic mutations disrupt stabilizing interactions between domains. This causes a much larger destabilisation than expected and demonstrates the importance of studying such mutations in the correct protein context

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