Mutations

PSEN1 L153V

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.25660C>G
Genomic Mutation Name (NT1): g.42214C>G
dbSNP ID: rs63751441
Coding/Non-Coding: Coding
Genomic Region: Exon 5
Mutation Type: Point, Missense
Codon Change: CTG to GTG

Findings

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Further Reading

Papers

  1. . Clinical and molecular studies reveal a PSEN1 mutation (L153V) in a Peruvian family with early-onset Alzheimer's disease. Neurosci Lett. 2014 Feb 2;563C PubMed.

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Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . A novel presenilin 1 missense mutation (L153V) segregating with early-onset autosomal dominant Alzheimer's disease. Hum Mutat. 2000 Jul;16(1) PubMed.
  2. . Autopsy-confirmed familial early-onset Alzheimer disease caused by the l153V presenilin 1 mutation. Arch Neurol. 2001 Jun;58(6):953-8. PubMed.