Mutations Position Table

PSEN1 R269 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
R269G
Alzheimer's Disease, Myoclonus Alzheimer's Disease : Pathogenic [MET1] g.49990C>G
[NT1] g.66596C>G
rs63751019
Coding
Exon 8
Point, Missense
CGT to GGT
0 Perez-Tur 1996
R269H
Alzheimer's Disease, Myoclonus Alzheimer's Disease : Pathogenic

Neuropathology consistent with Alzheimer's disease; a high burden of Aβ and neurofibrillary tangles in cortical areas.

Unknown.

[MET1] g.49991G>A
[NT1] g.66597G>A
rs63750900
Coding
Exon 8
Point, Missense
CGT to CAT
0 Gómez-Isla 1997