Mutations Position Table

MAPT L315 Mutations

Tools

Back to the Top
Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
L315L
Frontotemporal Dementia Frontotemporal Dementia : Pathogenic

Unknown.

Unknown.

[MET1] g.127673G>A
[NT1] g.124852G>A
rs63751231
Coding
Exon 11
Point, Silent
CTG to CTA
0
L315R
Frontotemporal Dementia, None Frontotemporal Dementia : Incomplete Penetrance

Extensive tau pathology in neurons (Pick-like inclusions) and astrocytes, particularly in the frontotemporal cortex and hippocampus. Tau extracted from the cerebral cortex was present in straight and twisted tau filaments.

Recombinant L315R tau protein has a compromised ability to promote microtubule assembly.

[MET1] g.127672T>G
[NT1] g.124851T>G
rs63749855
Coding
Exon 11
Point, Missense
CTG to CGG
0 van Herpen 2003