Mutations

PSEN2 R62C

Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Clinical Phenotype: Alzheimer's Disease, None
Genomic Mutation Name (MET1): 1838C>T
Genomic Mutation Name (NT1): 18176C>T
dbSNP ID:
Coding/Non-Coding: Coding
Genomic Region: Exon 4
Mutation Type: Point
Codon Change: CGC to TGC

Findings

Whether this variant plays a role in Alzheimer's disease pathogenicity is unclear. It was identified in one patient with Alzheimer's disease (Brouwers et al., 2008),  in one healthy control subject from the Netherlands (Sleegers et al., 2004), and in one healthy first-degree relative of a patient with late-onset AD (Ertekin-Taner et al., 2008).

Neuropathology

Unknown.

Biological Effect

Unknown.

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References

Paper Citations

  1. . Molecular genetics of Alzheimer's disease: an update. Ann Med. 2008;40(8):562-83. PubMed.
  2. . Familial clustering and genetic risk for dementia in a genetically isolated Dutch population. Brain. 2004 Jul;127(Pt 7):1641-9. Epub 2004 May 6 PubMed.
  3. . Plasma amyloid beta protein is elevated in late-onset Alzheimer disease families. Neurology. 2008 Feb 19;70(8):596-606. Epub 2007 Oct 3 PubMed.

Further Reading

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Familial clustering and genetic risk for dementia in a genetically isolated Dutch population. Brain. 2004 Jul;127(Pt 7):1641-9. Epub 2004 May 6 PubMed.
  2. . Plasma amyloid beta protein is elevated in late-onset Alzheimer disease families. Neurology. 2008 Feb 19;70(8):596-606. Epub 2007 Oct 3 PubMed.
  3. . Molecular genetics of Alzheimer's disease: an update. Ann Med. 2008;40(8):562-83. PubMed.

Other mutations at this position

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