Article
Disease-associated genetic variants can cause missense effects in tissue-specific protein isoforms.
Nature communications - 16 Jun 2026
Weykopf Giovanna, Badonyi Mihaly, Friman Elias T, Nguyen Jasmine Minh Hang, Ioannou Alexis, Livesey Benjamin J, Coutts Audrey, Hird Elizabeth F, Wham Murray, Stanton Chloe M, Vitart Veronique, Su Jing, Murphy Lee, Baillie J Kenneth, Gorrell Mark D, Marsh Joseph A, Bickmore Wendy A, Biddie Simon C
Abstract excerpt
Genetic variants can cause protein-coding mutations that result in disease. Variants are typically interpreted using the reference transcript for a gene. However, most human multi-exon genes have alternative isoforms. We show that, consistent with their reduced evolutionary constraint, coding exons in alternative isoforms harbour more population variants than exons of reference isoforms, and that these variants...
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