Mutations Position Table

MAPT G389 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
G389R
(G>A)
Frontotemporal Dementia, Pick's disease Frontotemporal Dementia : Pathogenic, Other Tauopathy : Pathogenic

Severe frontal lobe atrophy, neuronal loss, astrocytosis, and tissue vacuolation.

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

rs63750512
Coding
Exon 13
Point, Missense
GGG to AGG
0 Pickering-Brown 2000
G389R
(G>C)
Frontotemporal Dementia Frontotemporal Dementia : Pathogenic

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

 

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

rs63750512
Coding
Exon 13
Point, Missense
GGG to CGG
0 Murrell 1999;
Ghetti 2000;
Rossi 2008