Mutations Position Table
MAPT Q336 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| Q336H |
FTD : Pathogenic, Pick's disease : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 12 | Neuropathology consistent with Pick's disease. Focal cortical atrophy and Pick bodies (cytoplasmic inclusions in neurons that were primarily negative for Gallyas silver stain). Pick bodies contained primarily 3R tau. Pick cells, called “swollen achromatic neurons” or “ballooned neurons,” were frequent in some brain regions. |
Increased rate and steady-state levels of microtubule polymerization; Greater tau filament assembly and aggregation, especially for 3R tau.
|
Tacik et al., 2015 |
| Q336R |
FTD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 12 | Atrophy of the frontal lobes, anterior temporal lobes, hippocampus, and amygdala. In some areas neuronal loss and astrogliosis were severe, leading to spongiosis. Hyperphosphorylated tau accumulated in swollen (Pick) cells. Intraneuronal inclusions (Pick bodies) containing both 3R and 4R tau and neurofibrillary tangle‐like structures. |
Increases tau fibrillogenesis. In contrast to most MAPT missense mutations, Q336R increases, rather than decreases, mutant tau's ability to promote microtubule assembly. |
Pickering-Brown et al., 2004 |
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