Mutations Position Table

PSEN1 L174 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
L174M
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.38817C>A
[NT1] g.55422C>A
rs63751144
Coding
Exon 6
Point, Missense
CTG to ATG
0 Bertoli Avella 2002;
Sorbi 2002
L174R
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.38818T>G
[NT1] g.55423T>G
rs63751025
Coding
Exon 6
Point, Missense
CTG to CGG
0 Kl√ľnemann 2004