Mutations Position Table

MAPT G335 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
G335S
Frontotemporal Dementia Frontotemporal Dementia : Pathogenic

Degeneration of the frontal and temporal lobes, hippocampus, and substantia nigra. Extensive deposition of tau, neurofibrillary tangles, and neuropil threads, but no Pick bodies. Tau-positive inclusions in neurons and glia. Sarkosyl-insoluble tau showed paired helical and straight filaments, and more irregular rope-like filaments.

Reduced ability of tau to promote microtubule assemby.

rs63750095
Coding
Exon 12
Point, Missense
GGC to AGC
0 Spina 2007
G335V
Frontotemporal Dementia Frontotemporal Dementia : Pathogenic

Unknown.

Reduced ability of tau to promote microtubule assembly. Increased heparin-induced assembly of recombinant tau into filaments.

rs63750905
Coding
Exon 12
Point, Missense
GGC to GTC
0 Neumann 2005