Mutations

PSEN2 P334R

Overview

Pathogenicity: Alzheimer's Disease : Not Pathogenic
Clinical Phenotype: Alzheimer's Disease, None
Reference Assembly: GRCh37 (105)
Position: Chr1:227079474 C>G
dbSNP ID: rs63750207
Coding/Non-Coding: Coding
Genomic Region: Exon 10
Mutation Type: Point, Missense
Codon Change: CCT to CGT

Findings

This variant was detected in a large Spanish kindred with familial late-onset Alzheimer's disease. The proband began experiencing memory impairment at age 80 and was diagnosed with AD. The proband had three affected siblings and a cousin, but the variant did not segregate with the disease. In addition, the variant was found in one of 165 unrelated individuals and is thought to be a rare polymorphism (Lleó et al., 2002).

Neuropathology

Not applicable.

Biological Effect

Unknown. The P334R residue is not conserved in PSEN1.

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References

Paper Citations

  1. . Uncommon polymorphism in the presenilin genes in human familial Alzheimer's disease: not to be mistaken with a pathogenic mutation. Neurosci Lett. 2002 Feb 1;318(3):166-8. PubMed.

Further Reading

Papers

  1. . Frequency of mutations in the presenilin and amyloid precursor protein genes in early-onset Alzheimer disease in Spain. Arch Neurol. 2002 Nov;59(11):1759-63. PubMed.

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Primary Papers

  1. . Uncommon polymorphism in the presenilin genes in human familial Alzheimer's disease: not to be mistaken with a pathogenic mutation. Neurosci Lett. 2002 Feb 1;318(3):166-8. PubMed.

Other mutations at this position

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