Mutations

PSEN2 R163H

Overview

Pathogenicity: Alzheimer's Disease : Not Pathogenic
Clinical Phenotype: None
Genomic Mutation Name (MET1): g.3760G>A
Genomic Mutation Name (NT1): g.20098G>A
dbSNP ID:
Coding/Non-Coding: Coding
Genomic Region: Exon 5
Mutation Type: Point, Missense
Codon Change: CGC to CAC

Findings

This variant was first described in a Swedish family with autosomal-dominant Parkinson's disease due to a mutation in α-synuclein (A53T). The proband was found to be heterozygous for PSEN2 R163H, as was the proband's unaffected mother. The R163H variant was not detected in 170 individuals from the same geographic region (southern Scandinavia) who had been evaluated for suspected hereditary dementia, and it is thought to be a benign polymorphism (Puschmann et al., 2009).

Neuropathology

Not applicable.

Biological Effect

Unknown.

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References

Paper Citations

  1. . A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction. Parkinsonism Relat Disord. 2009 Nov;15(9):627-32. Epub 2009 Jul 25 PubMed.

Further Reading

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction. Parkinsonism Relat Disord. 2009 Nov;15(9):627-32. Epub 2009 Jul 25 PubMed.