Mutations Position Table

MAPT L266 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
L266L
None Frontotemporal Dementia : Not Pathogenic

Not applicable.

Unknown.


Coding
Exon 9
Point, Silent
CTG to CTA
0 Guerreiro et al., 2010
L266V
Frontotemporal Dementia Frontotemporal Dementia : Pathogenic

Severe atrophy of the frontal and temporal lobes; Extensive neuronal loss and gliosis; Many tau-positive inclusions, including Pick bodies; Tau-positive argyrophilic astrocytes with stout filaments and round or irregular argyrophilic inclusions.

Increased levels of exon 10+ tau mRNA and soluble four-repeat (4R) tau; Decreased rate and extent of tau-induced microtubule assembly; A 3R isoform-specific increase in tau self-assembly.

rs63750349
Coding
Exon 9
Point, Missense
CTG to GTG
1 Kobayashi et al., 2003;
Hogg et al., 2003