Distribution of disease-causing germline mutations in coiled-coils implies an important role of their N-terminal region.

Abstract excerpt

Next-generation sequencing resulted in the identification of a huge number of naturally occurring variations in human proteins. The correct interpretation of the functional effects of these variations necessitates the understanding of how they modulate protein structure. Coiled-coils are α-helical structures responsible for a diverse range of functions, but most importantly, they facilitate the structural...

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