Mutations

PSEN1 S365A

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.63824T>G
Genomic Mutation Name (NT1): g.80436T>G
dbSNP ID:
Coding/Non-Coding: Coding
Genomic Region: Exon10
Mutation Type: Point, Missense
Codon Change: TCC to GCC

Findings

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Further Reading

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Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Genetic screening in a large cohort of early-onset Alzheimer's disease patients from Spain: novel mutations in the amyloid precursor protein and presenilines. . Alzheimer's & Dementia 4 Supp 2: T583, 2008
  2. . Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. Neurobiol Aging. 2010 May;31(5):725-31. Epub 2008 Jul 30 PubMed.

Other mutations at this position

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