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Prion Protein Mutation Database

Schematic with Pathogenicity

Mutations and polymorphisms in PRNP are shown in the schematic below. Sixty-two missense, structural and termination mutations are set alongside their pathogenicity. Polymorphisms found in healthy populations are also shown. Figure courtesy of Professor Simon Mead. Download paper here.

Detailed clinicopathologic and structural information on each missense mutation in the prion protein can be accessed through the PrP Mutation Map.