Mutations

PSEN1 R35Q

Overview

Pathogenicity: Alzheimer's Disease : Not Pathogenic
Clinical Phenotype: Alzheimer's Disease, None
Genomic Mutation Name (MET1): g.22789G>A
Genomic Mutation Name (NT1): g.39343G>A
dbSNP ID: rs63750592
Coding/Non-Coding: Coding
Genomic Region: Exon 4
Mutation Type: Point, Missense
Codon Change: CGG to CAG

Findings

This variant was detected in one out of 414 Alzheimer's disease patients who were thought to carry genetic risk factors. Segregation analysis was not possible in this case (Rogaeva et al., 2001).

The variant was later found in one Mozabite individual while sequencing 130 African samples obtained from the Centre d'Etude du Polymorphisme Humain-Human Genome Diversity Panel (CEPH-HGDP) (Guerreiro et al., 2010). Given this finding, the lack of evidence for segregation with disease, and the fact that the affected residue is not conserved in presenilin-2, this variant is thought to be a benign polymorphism.

Neuropathology

Not applicable.

Biological Effect

Unknown.

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References

Paper Citations

  1. . Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology. 2001 Aug 28;57(4):621-5. PubMed.
  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.

Further Reading

Papers

  1. . Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update. J Med Genet. 2005 Oct;42(10):793-5. Epub 2005 Jul 20 PubMed.

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology. 2001 Aug 28;57(4):621-5. PubMed.