Mutations Position Table
MAPT V363 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| V363A |
Frontotemporal Dementia Spectrum : Not Classified | Substitution | Substitution | Missense | Coding | Exon 12 | Unknown, but neuroimaging of one carrier revealed midbrain atrophy and dopaminergic denervation. |
Decreased microtubule binding and assembly in cells (0NR4 isoform, but not 0NR3) and cell-free assays. Some effects on neuronal function in worms. |
Rossi et al., 2014 |
| V363I (V680I, V698I) |
Frontotemporal Dementia Spectrum : Uncertain Significance | Substitution | Substitution | Missense | Coding | Exon 12 | One carrier had neuropathology consistent with CBD. Neuroimaging data from several carriers indicated heterogeneity, including alterations typical of disorders in the FTD spectrum. |
Mixed results. Possible alterations of microtubule binding, tau aggregation, synaptic function, DNA copy number variation. In cells, moderate reduction in viability, but no effect on transgenic worm survival. |
Munoz et al., 2007; Anfossi et al., 2011 |
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