Mutations Position Table

PSEN1 R269 Mutations

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 rs63751019
Coding
Exon 8
Point, Missense
CGT to GGT
0 Perez-Tur et al., 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.

rs63750900
Coding
Exon 8
Point, Missense
CGT to CAT
0 Gómez-Isla et al., 1997

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