Mutations

APP E296K

Overview

Pathogenicity: Alzheimer's Disease : Not Classified
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37/hg19
Position: Chr21:27372477 G>A
dbSNP ID: NA
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: GAG to AAG
Reference Isoform: APP Isoform APP770 (770 aa)
Genomic Region: Exon 7

Findings

This APP variant was identified in one of 424 French people with early onset AD by whole-exome sequencing (Nicolas et al., 2015). Because it is located in exon 7, the E296K variant is considered unlikely to be pathogenic.

Two alleles of this variant are reported in the gnomAD variant database, both from individuals of South Asian ancestry (gnomAD v2.1.1, Oct 2021).

Neuropathology

Unknown.

Biological Effects

The biological effects of this variant are unknown, but the PHRED-scaled CADD score, which integrates diverse information in silico, was above 20, suggesting a deleterious effect (CADD v.1.6, Oct 2021). 

Last Updated: 07 Oct 2021

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References

Paper Citations

  1. . Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons. Eur J Hum Genet. 2015 Aug 5; PubMed.

External Citations

  1. gnomAD v2.1.1
  2. CADD v.1.6

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons. Eur J Hum Genet. 2015 Aug 5; PubMed.

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