Mutations Position Table

MAPT L266 Mutations

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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.

[MET1] g.110046G>A
[NT1] g.107220G>A

Coding
Exon 9
Point, Silent
CTG to CTA
0 Guerreiro 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.

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

[MET1] g.110044C>G
[NT1] g.107218C>G
rs63750349
Coding
Exon 9
Point, Missense
CTG to GTG
0 Kobayashi 2003;
Hogg 2003