Mutations

PSEN1 V272A

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease, Parkinsonism, Subcortical Dementia
Genomic Mutation Name (MET1): g.50000T>C
Genomic Mutation Name (NT1): g.66606T>C
dbSNP ID: rs63750680
Coding/Non-Coding: Coding
Genomic Region: Exon 8
Mutation Type: Point, Missense
Codon Change: GTT to GCT

Findings

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Further Reading

Papers

  1. . 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.
  2. . Clinical-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations. J Alzheimers Dis. 2010;19(3):873-84. PubMed.

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Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . New V272A presenilin 1 mutation with very early onset subcortical dementia and parkinsonism. Eur J Neurol. 2004 Oct;11(10):663-9. PubMed.