Mutations

PSEN1 L262F

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.49971G>C
Genomic Mutation Name (NT1): g.66577G>C
dbSNP ID: rs63750248
Coding/Non-Coding: Coding
Genomic Region: Exon 8
Mutation Type: Point, Missense
Codon Change: TTG to TTC

Findings

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Further Reading

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Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . A novel pathogenic mutation (Leu262Phe) found in the presenilin 1 gene in early-onset Alzheimer's disease. Neurosci Lett. 1997 Sep 26;234(1):3-6. PubMed.

Other mutations at this position

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