Mutations Position Table

PSEN1 L173 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
L173F
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.38816G>C
[NT1] g.55421G>C

Coding
Exon 6
Point, Missense
TTG to TTC
0 Kasuga 2009
L173W
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.38815T>G
[NT1] g.55420T>G
rs63750299
Coding
Exon 6
Point, Missense
TTG to TGG
0 Campion 1999