Mutations

PSEN2 P69A

Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1):
Genomic Mutation Name (NT1):
dbSNP ID:
Coding/Non-Coding: Coding
Genomic Region: Exon 4
Mutation Type: Point, Missense
Codon Change: C to G

Findings

This mutation was identified in a Serbian patient who developed Alzheimer's disease at the age of 74. The proband's sister developed similar symptoms at age 76 and died at the age of 83. Segregation could not be assessed, but the authors note that P69A is likely to be a benign polymorphism based on its location in the protein (Dobricic et al., 2012).

Neuropathology

Unknown.

Biological Effect

Unknown. This variant is predicted to alter a residue in the N-terminal of PSEN2 that is conserved in PSEN1(P47).

Comments

Make a Comment

To make a comment you must login or register.

Comments on this content

No Available Comments

References

Paper Citations

  1. . Genetic testing in familial and young-onset Alzheimer's disease: mutation spectrum in a Serbian cohort. Neurobiol Aging. 2012 Jul;33(7):1481.e7-12. Epub 2012 Jan 4 PubMed.

Further Reading

Learn More

Primary Papers

  1. . Genetic testing in familial and young-onset Alzheimer's disease: mutation spectrum in a Serbian cohort. Neurobiol Aging. 2012 Jul;33(7):1481.e7-12. Epub 2012 Jan 4 PubMed.