Mutations Position Table

MAPT G389 Mutations

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Mutation Pathogenicity DNA Change Expected RNA | Protein Consequence Coding/Non-Coding Genomic Region Neuropathology Biological Effect Primary
Papers
G389R (G>A)
FTD : Pathogenic, Other Tauopathy : Pathogenic Substitution Substitution | Missense Coding Exon 13

Severe frontal lobe atrophy; neuronal loss; astrocytosis; tissue vacuolation.

Recombinant G389R tau showed a reduced ability to promote microtubule assembly and an increased susceptibility to calpain I digestion.

Pickering-Brown et al., 2000
G389R (G>C)
FTD : Pathogenic Substitution Substitution | Missense Coding Exon 13

Numerous neocortical tau-positive Pick body-like inclusions and filamentous axonal inclusions.

 

Recombinant G389R tau showed a reduced ability to promote microtubule assembly.

Murrell et al., 1999;
Ghetti et al., 2000;
Rossi et al., 2008

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