Mutations Position Table

PSEN1 R278 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
R278K
Alzheimer's Disease, Spastic Paraparesis Alzheimer's Disease : Pathogenic, Spastic Paraparesis : Pathogenic rs63749891
Coding
Exon 8
Point, Missense
AGA to AAA
0 Assini et al., 2003
R278T
Alzheimer's Disease, Spastic Paraparesis Alzheimer's Disease : Pathogenic rs63749891
Coding
Exon 8
Point, Missense
AGA to ACA
0 Kwok et al., 1997
R278I
Alzheimer's Disease, Progressive Nonfluent Aphasia Alzheimer's Disease : Pathogenic, Progressive Nonfluent Aphasia : Pathogenic

Unknown; MRI showed multiple white-matter foci; Atrophy minimal or absent.

Selective increase in secreted Aβ43; Impaired endoproteolysis of presenilin-1.

rs63749891
Coding
Exon 8
Point, Missense
AGA to ATA
1 Godbolt et al., 2004
R278S
Alzheimer's Disease, Spastic Paraparesis Alzheimer's Disease : Pathogenic rs63750524
Coding
Exon 8
Point, Missense
AGA to AGC
0 Raman et al., 2007

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