Mutations Position Table

PSEN1 R278 Mutations

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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 2003
R278T
Alzheimer's Disease, Spastic Paraparesis Alzheimer's Disease : Pathogenic rs63749891
Coding
Exon 8
Point, Missense
AGA to ACA
0 Kwok 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.

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

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