Mutations Position Table

MAPT R5 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
R5C
Parkinson's Disease Dementia Parkinson's Disease Dementia : Unclear Pathogenicity

Unknown.

Unknown.


Coding
Exon 1
Point, Missense
CGC to TGC
0 Schulte 2015
R5H
Frontotemporal Dementia Frontotemporal Dementia : Unclear Pathogenicity, Alzheimer's Disease : Unclear Pathogenicity

Neuronal loss in the frontal and temporal lobes, tau deposits predominantly in glia, progressive supranuclear palsy-like straight tubules, accumulation of 4-repeat (4R), Sarkosyl-insoluble tau.

 

Reduces tau's ability to promote microtubule assembly. Increases fibril formation in vitro.

[MET1] g.75756G>A
[NT1] g.72930G>A
rs63750959
Coding
Exon 1
Point, Missense
CGC to CAC
0 Hayashi 2002
R5L
Progressive Supranuclear Palsy Other Tauopathy : Pathogenic

Aggregated insoluble tau in subcortical regions was predominantly 4-repeat (4R) tau with 0 or 1 amino terminal inserts (i.e. 0N4R or 1N4R). Insoluble tau in cortical regions also contained 1N3R tau.

Reduces tau's ability to promote microtubule assembly. No effect on the ratio of tau isoforms synthesized.

[MET1] g.75756G>T
[NT1] g.72930G>T
rs63750959
Coding
Exon 1
Point, Missense
CGC to CTC
0 Poorkaj 2002