Mutations Position Table
MAPT G335 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| G335A |
FTD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 12 | Neuron loss in frontal and temporal cortices and substantia nigra. Neurofibrillary tangles composed of 3R- and 4R-tau. Astrocytic inclusions composed of 4R tau. |
Unknown, but other mutations at this position (G335S, G335V) reduce the ability of tau to promote microtubule assembly. |
Ando et al., 2020 |
| G335V |
FTD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 12 | Unknown. |
Reduced ability of tau to promote microtubule assembly; Increased heparin-induced assembly of recombinant tau into filaments. |
Neumann et al., 2005 |
| G335S |
FTD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 12 | Degeneration of the frontal and temporal lobes, hippocampus, and substantia nigra. Extensive deposition of tau, neurofibrillary tangles, and neuropil threads, but no Pick bodies. Tau-positive inclusions in neurons and glia. Sarkosyl-insoluble tau showed paired helical and straight filaments, and more irregular rope-like filaments. |
Reduced ability of tau to promote microtubule assemby. |
Spina et al., 2007 |
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