Mutations Position Table

MAPT L284 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
L284L
Frontotemporal Dementia Frontotemporal Dementia : Pathogenic

A variety of tau aggregates in both neurons and glia. In addition, a substantial number of diffuse and neuritic Aβ plaques, possibly due to coincident AD.

The silent L284L increases transcripts containing exon 10 and decreases transcripts lacking exon 10. The mutation is thought to destroy an exon-splicing silencing element.

rs63751423
Coding
Exon 10
Point, Silent
CTT to CTC
0 D'Souza et al., 1999
L284R
Progressive Supranuclear Palsy Other Tauopathy : Pathogenic, Frontotemporal Dementia : Not Pathogenic

Unknown.

Unknown.


Coding
Exon 10
Point, Missense
CTT to CGT
0 Rohrer et al., 2011

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