Mutations Position Table

PSEN1 W165 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
W165G
Alzheimer's Disease Alzheimer's Disease : Pathogenic rs63751010
Coding
Exon 6
Point, Missense
TGG to GGG
0 Higuchi et al., 2000
W165C
Alzheimer's Disease Alzheimer's Disease : Pathogenic rs63741484
Coding
Exon 6
Point, Missense
TGG to TGC
0 Campion et al., 1999

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