Position of Mutation Determines HI or DN Effects in RELA Nonsense Variants (IMAGE)

Hiroshima University

Position of Mutation Determines HI or DN Effects in RELA Nonsense Variants

Caption

Scientists identified a key breakpoint in the RELA gene that helps predict how harmful mutations cause a rare inherited inflammatory disease. Mutations in a location before amino acid P290 reduce protein levels, whilst those located after P290 produce disruptive proteins. The finding could improve diagnosis and treatment selection for patients with RELA deficiency.

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Hiroko Hayakawa, Hiroshima University

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