Mutations Position Table

MAPT R5 Mutations

Tools

Back to the Top
Mutation Pathogenicity DNA Change Expected RNA | Protein Consequence Coding/Non-Coding Genomic Region Neuropathology Biological Effect Primary
Papers
R5L
Other Tauopathy : Pathogenic Substitution Substitution | Missense Coding Exon 1

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.

Poorkaj et al., 2002
R5H
FTD : Unclear Pathogenicity, AD : Unclear Pathogenicity Substitution Substitution | Missense Coding Exon 1

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.

Hayashi et al., 2002
R5C
PDD : Unclear Pathogenicity Substitution Substitution | Missense Coding Exon 1

Unknown.

Unknown.

Schulte et al., 2015

Disclaimer: Alzforum does not provide medical advice. The Content is for informational, educational, research and reference purposes only and is not intended to substitute for professional medical advice, diagnosis or treatment. Always seek advice from a qualified physician or health care professional about any medical concern, and do not disregard professional medical advice because of anything you may read on Alzforum.