Mutations

PSEN2 R29H

Overview

Pathogenicity: Alzheimer's Disease : Not Pathogenic
Clinical Phenotype: None
Reference Assembly: GRCh37 (105)
Position: Chr1:227069694 G>A
dbSNP ID: NA
Coding/Non-Coding: Coding
Genomic Region: Exon 3
Mutation Type: Point
Codon Change: CGC to CAC

Findings

This variant was identified in one African individual from the Mandenka population. It alters a residue that is conserved between PSEN1 and PSEN2, but the functional effect of this change is not known (Guerreiro et al., 2010).

Neuropathology

Not applicable.

Biological Effect

Unknown.

Comments

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References

Paper Citations

  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.

Further Reading

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Primary 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.

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