Mutations Position Table

PSEN1 P267 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
P267S
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.49984C>T
[NT1] g.66590C>T
rs63751229
Coding
Exon 8
Point, Missense
CCA to TCA
0 1995;
Hutton 1996
P267L
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.49985C>T
[NT1] g.66591C>T
rs63750779
Coding
Exon 8
Point, Missense
CCA to CTA
0 Kowalska 2003