Mutations

PSEN1 L174M

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.38817C>A
Genomic Mutation Name (NT1): g.55422C>A
dbSNP ID: rs63751144
Coding/Non-Coding: Coding
Genomic Region: Exon 6
Mutation Type: Point, Missense
Codon Change: CTG to ATG

Findings

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Further Reading

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Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease. Neurogenetics. 2002 Oct;4(2):97-104. PubMed.
  2. . Novel presenilin 1 and presenilin 2 mutations in early-onset Alzheimer's disease families. Neurobiology of Aging 23 (1S): S312, 2002

Other mutations at this position

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