Mutations

PSEN2 R62C

Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Clinical Phenotype: Alzheimer's Disease, None
Genome Build: 105
Position: Chr1:227071448 C>T
dbSNP ID: rs150400387
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 has been identified in at least four individuals: one patient with Alzheimer's disease (Brouwers et al., 2008),  one healthy control from the Netherlands (Sleegers et al., 2004),  one healthy first-degree relative of a patient with late-onset AD (Ertekin-Taner et al., 2008), and one patient with Alzheimer’s whose brother also had AD (Frigerio et al., 2015).

Neuropathology

Unknown.

Biological Effect

Unknown. PolyPhen2 predicted the R62C variant was possibly damaging in silico (Frigerio et al., 2015).

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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.
  4. . On the identification of low allele frequency mosaic mutations in the brains of Alzheimer disease patients. Alzheimers Dement. 2015 Apr 28; PubMed.

Further Reading

Learn More

  1. 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

Alzpedia