Mutations Position Table

MAPT G335 Mutations

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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.

[MET1] g.132033G>A
[NT1] g.129213G>A
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.

[MET1] g.132034G>T
[NT1] g.129214G>T
rs63750905
Coding
Exon 12
Point, Missense
GGC to GTC
0 Neumann 2005