Mutations Position Table
MAPT K317 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| K317N |
GGT : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 11 | Lobar atrophy, especially in the inferior frontal gyrus. White-matter pathology, including vacuoles, gliosis, and loss of myelinated fibers. Extensive tau pathology, with tau-positive inclusions in neurons, astrocytes and oligodendrocytes. Distribution of tau pathology consistent with globular glial tauopathy, subtype III. |
Impaired tubulin polymerization. Altered tau aggregation in an isoform-specific manner; accelerated tau assembly in 4R tau while decreasing tau aggregation, misfolding, and filament assembly in 3R tau. |
Tacik et al., 2015 |
| K317M |
Other Tauopathy : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 11 | Severe degeneration of the substantia nigra with extensive neuronal loss and gliosis. No Lewy bodies or Pick’s bodies. Severe neuron loss in the motor bulbar nuclei and anterior horn of the spinal cord. Frequent, diverse inclusions in oligodendrocytes and astrocytes. Phospho-tau-positive pre-tangles and tangles in neurons. |
Mutant mouse brain homogenates induced seeding and spreading of 4R and 3R tau in wildtype mouse brains. |
Zarranz et al., 2005 |
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