Mutations Position Table
MAPT R5 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| R5L |
Other Tauopathy : Uncertain Significance | Substitution | Substitution | Missense | Coding | Exon 1 | Aggregated insoluble tau in subcortical regions was predominantly 4-repeat (4R) tau with 0 or 1 amino terminal inserts (i.e. 0N4R or 1N4R). Insoluble tau in cortical regions also contained 1N3R tau. |
Reduces tau's ability to promote microtubule assembly; No effect on the ratio of tau isoforms synthesized. |
Poorkaj et al., 2002 |
| R5H |
FTD : Unclear Pathogenicity, AD : Unclear Pathogenicity | Substitution | Substitution | Missense | Coding | Exon 1 | Neuronal loss in the frontal and temporal lobes; Tau deposits predominantly in glia, progressive supranuclear palsy-like straight tubules; Accumulation of 4-repeat (4R), Sarkosyl-insoluble tau.
|
Reduces tau's ability to promote microtubule assembly; Increases fibril formation in vitro. |
Hayashi et al., 2002 |
| R5C |
PDD : Unclear Pathogenicity | Substitution | Substitution | Missense | Coding | Exon 1 | Unknown. |
Unknown. |
Schulte et al., 2015 |
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