Mutations

PSEN1 A285V

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.50039C>T
Genomic Mutation Name (NT1): g.66645C>T
dbSNP ID: rs63751139
Coding/Non-Coding: Coding
Genomic Region: Exon 8
Mutation Type: Point, Missense
Codon Change: GCT to GTT

Findings

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Further Reading

Papers

  1. . A presenilin-1 mutation in a Japanese family with Alzheimer's disease and distinctive abnormalities on cranial MRI. Neurology. 1997 Apr;48(4):1118-20. PubMed.

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Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. Nature. 1995 Aug 31;376(6543):775-8. PubMed.
  2. . The clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients. Ann Neurol. 1996 Dec;40(6):912-7. PubMed.