Mutations Position Table

MAPT L315 Mutations

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.

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.

rs63749855
Coding
Exon 11
Point, Missense
CTG to CGG
0 van Herpen 2003