Mutations

PSEN1 L282V

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease, Cerebral Amyloid Angiopathy
Genomic Mutation Name (MET1): g.50029C>G
Genomic Mutation Name (NT1): g.66635C>G
dbSNP ID: rs63749937
Coding/Non-Coding: Coding
Genomic Region: Exon 8
Mutation Type: Point, Missense
Codon Change: CTT to GTT

Findings

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Further Reading

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Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation. Brain. 2001 Dec;124(Pt 12):2383-92. PubMed.

Other mutations at this position

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