Mutations

PSEN2 A379D

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr1:227081771 C>A
dbSNP ID: NA
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: GCC to GAC
Reference Isoform: PSEN2 isoform 1 (448 aa)
Genomic Region: Exon 11

Findings

This mutation was found in a Han Chinese individual diagnosed with probable AD according to the NINCDS-ADRDA and DSM-IV criteria (Wang et al., 2019).  The patient had no family history of AD and was APOE4 negative. Age at onset was 55 years. The mutation was absent from 160 controls.

Neuropathology
Unknown

Biological Effect
This mutation was predicted to be damaging by four algorithms with a PHRED CADD core of 27.1. It was described as “possibly pathogenic” (Wang et al., 2019).

Last Updated: 30 Oct 2019

Comments

No Available Comments

Make a Comment

To make a comment you must login or register.

References

Paper Citations

  1. . Mutation and association analyses of dementia-causal genes in Han Chinese patients with early-onset and familial Alzheimer's disease. J Psychiatr Res. 2019 Jun;113:141-147. Epub 2019 Mar 30 PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . Mutation and association analyses of dementia-causal genes in Han Chinese patients with early-onset and familial Alzheimer's disease. J Psychiatr Res. 2019 Jun;113:141-147. Epub 2019 Mar 30 PubMed.

Disclaimer: Alzforum does not provide medical advice. The Content is for informational, educational, research and reference purposes only and is not intended to substitute for professional medical advice, diagnosis or treatment. Always seek advice from a qualified physician or health care professional about any medical concern, and do not disregard professional medical advice because of anything you may read on Alzforum.