Mutations

PSEN1 L282R

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.50030T>G
Genomic Mutation Name (NT1): g.66636T>G
dbSNP ID: rs63750050
Coding/Non-Coding: Coding
Genomic Region: Exon 8
Mutation Type: Point, Missense
Codon Change: CTT to CGT

Findings

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Further Reading

Papers

  1. . DGGE method for the mutational analysis of the coding and proximal promoter regions of the Alzheimer's disease presenilin-1 gene: two novel mutations. Hum Mutat. 1999;14(5):433-9. PubMed.
  2. . Clinical-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations. J Alzheimers Dis. 2010;19(3):873-84. PubMed.

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Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Identification of a novel mutation (Leu282Arg) of the human presenilin 1 gene in Alzheimer's disease. Neurosci Lett. 1998 Jan 16;240(3):174-6. PubMed.

Other mutations at this position

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