Mutations Position Table

MAPT L284 Mutations

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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 glial cells. In addition, a substantial number of diffuse and neuritic Aβ plaques, possibly due to coincident AD.

The silent mutation L284L produces an increase in E10+ transcripts resulting in almost no E10− transcript. The mutation is thought to destroy an exon-splicing silencing element.

[MET1] g.123740T>C
[NT1] g.120919T>C
rs63751423
Coding
Exon 10
Point, Silent
CTT to CTC
0 D'Souza 1999
L284R
Progressive Supranuclear Palsy Other Tauopathy : Pathogenic, Frontotemporal Dementia : Not Pathogenic

Unknown.

Unknown.


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