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 [MET1] g.50018G>A
[NT1] g.66624G>A
rs63749891
Coding
Exon 8
Point, Missense
AGA to AAA
0 Assini 2003
R278T
Alzheimer's Disease, Spastic Paraparesis Alzheimer's Disease : Pathogenic [MET1] g.50018G>C
[NT1] g.66624G>C
rs63749891
Coding
R278T
Point, Missense
AGA to ACA
0 Kwok 1997
R278I
Alzheimer's Disease, Progressive Nonfluent Aphasia Alzheimer's Disease : Pathogenic [MET1] g.50018G>T
[NT1] g.66624G>T
rs63749891
Coding
Exon 8
Point, Missense
AGA to ATA
0 Godbolt 2004
R278S
Alzheimer's Disease, Spastic Paraparesis Alzheimer's Disease : Pathogenic [MET1] g.50019A>C
[NT1] g.66625A>C
rs63750524
Coding
Exon 8
Point, Missense
AGA to AGC
0 Raman 2007