Mutations

PSEN1 Y154N

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease, Spastic Paraparesis
Genomic Mutation Name (MET1): g.25663T>A
Genomic Mutation Name (NT1): g.42217T>A
dbSNP ID: rs63750588
Coding/Non-Coding: Coding
Genomic Region: Exon 5
Mutation Type: Point, Missense
Codon Change: TAT to AAT

Findings

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Further Reading

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Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis. Neurosci Lett. 2004 Sep 30;368(3):319-22. PubMed.

Other mutations at this position

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