Mutations

PSEN1 L282F

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.50029C>T
Genomic Mutation Name (NT1): g.66635C>T
dbSNP ID:
Coding/Non-Coding: Coding
Genomic Region: Exon 8
Mutation Type: Point, Missense
Codon Change: CTT to TTT

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 (L282F) in familial Alzheimer's disease. J Neurol. 2009 Sep;256(9):1575-7. PubMed.

Other mutations at this position

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