Mutations Position Table
MAPT L266 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| L266L |
FTD : Benign | Substitution | Substitution | Silent | Coding | Exon 9 | Not applicable. |
Unknown. |
Guerreiro et al., 2010 |
| L266V |
FTD : Pathogenic | Substitution | Splicing Alteration | Isoform Shift; Missense | Coding | Exon 9 | 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. |
Kobayashi et al., 2003; Hogg et al., 2003 |
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