Mutations

PSEN2 P348L

Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr1:227079516 C>T
dbSNP ID: NA
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: CCA to CTA
Reference Isoform: PSEN2 isoform 1 (448 aa)
Genomic Region: Exon 10

Findings

This mutation was identified in a German subject of European descent who developed dementia symptoms at the age of 65 (Blauwendraat et al., 2015). Symptoms included disorientation and memory loss. Death occurred at age 73. History of neurodegenerative disease was absent in the mutation carrier’s parents and two sisters. The pathogenic significance of this mutation is currently undetermined.

Neuropathology

Unknown.

Biological effect

Unknown. This mutation has been predicted benign by four in silico algorithms, but pathogenic according to MutationTaster.

Last Updated: 13 Nov 2015

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References

Paper Citations

  1. . Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants. Neurobiol Aging. 2016 Jan;37:208.e11-7. Epub 2015 Sep 30 PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants. Neurobiol Aging. 2016 Jan;37:208.e11-7. Epub 2015 Sep 30 PubMed.

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