Mutations Position Table
MAPT L266 Mutations
| Mutation | Clinical Phenotype |
Pathogenicity | Neuropathology | Biological Effect | Genomic Position | Coding/Non-Coding | Genomic Region | Mutation Type Codon Change |
Research Models |
Primary Papers |
|---|---|---|---|---|---|---|---|---|---|---|
| L266L |
None | FTD : Benign | Not applicable. | Unknown. | Coding | Exon 9 | Point, Silent CTG to CTA |
0 | Guerreiro et al., 2010 | |
| L266V |
Frontotemporal Dementia | FTD : 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 |
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