Mutations Position Table

MAPT L284 Mutations

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Mutation Pathogenicity DNA Change Expected RNA | Protein Consequence Coding/Non-Coding Genomic Region Neuropathology Biological Effect Primary
Papers
L284L
FTD : Pathogenic Substitution Splicing Alteration | Isoform Shift; Silent Coding Exon 10

A variety of tau aggregates in both neurons and glia. In addition, a substantial number of diffuse and neuritic Aβ plaques, possibly due to coincident AD.

The silent L284L increases transcripts containing exon 10 and decreases transcripts lacking exon 10. The mutation is thought to destroy an exon-splicing silencing element.

D'Souza et al., 1999
L284R
Other Tauopathy : Pathogenic, FTD : Benign Substitution Substitution | Missense Coding Exon 10

Unknown.

Unknown.

Rohrer et al., 2011

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