Mutations Position Table
MAPT R5 Mutations
| Mutation | Clinical Phenotype |
Pathogenicity | Neuropathology | Biological Effect | Genomic Position | Coding/Non-Coding | Genomic Region | Mutation Type Codon Change |
Research Models |
Primary Papers |
|---|---|---|---|---|---|---|---|---|---|---|
| R5L |
Progressive Supranuclear Palsy | Other Tauopathy : Pathogenic | 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. | rs63750959 |
Coding | Exon 1 | Point, Missense CGC to CTC |
0 | Poorkaj et al., 2002 |
| R5H |
Frontotemporal Dementia | FTD : Unclear Pathogenicity, AD : Unclear Pathogenicity | 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. | rs63750959 |
Coding | Exon 1 | Point, Missense CGC to CAC |
0 | Hayashi et al., 2002 |
| R5C |
Parkinson's Disease Dementia | PDD : Unclear Pathogenicity | Unknown. | Unknown. | Coding | Exon 1 | Point, Missense CGC to TGC |
0 | Schulte et al., 2015 |
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