Mutations Position Table

PSEN1 W165 Mutations

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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 [MET1] g.38790T>G
[NT1] g.55395T>G
rs63751010
Coding
Exon 6
Point, Missense
TGG to GGG
0 Higuchi 2000
W165C
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.38792G>C
[NT1] g.55397G>C
rs63741484
Coding
Exon 6
Point, Missense
TGG to TGC
0 Campion 1999