Mutations Position Table

MAPT L266 Mutations

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Mutation Pathogenicity DNA Change Expected RNA | Protein Consequence Coding/Non-Coding Genomic Region Neuropathology Biological Effect Primary
Papers
L266L
FTD : Benign Substitution Substitution | Silent Coding Exon 9

Not applicable.

Unknown.

Guerreiro et al., 2010
L266V
FTD : Pathogenic Substitution Splicing Alteration | Isoform Shift; Missense Coding Exon 9

Severe atrophy of the frontal and temporal lobes; Extensive neuronal loss and gliosis; Many tau-positive inclusions, including Pick bodies; Tau-positive argyrophilic astrocytes with stout filaments and round or irregular argyrophilic inclusions.

Increased levels of exon 10+ tau mRNA and soluble four-repeat (4R) tau; Decreased rate and extent of tau-induced microtubule assembly; A 3R isoform-specific increase in tau self-assembly.

Kobayashi et al., 2003;
Hogg et al., 2003

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