Mutations

APP K496Q

Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr21:27328042 A>C
dbSNP ID: rs201384815
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: AAG to CAG
Reference Isoform: APP Isoform APP770 (770 aa)
Genomic Region: Exon 12

Findings

This variant was one of several rare polymorphisms detected by exome sequencing in a British cohort composed of 47 unrelated early onset Alzheimer’s cases and 179 elderly controls free of AD pathology. The mutation was detected in one Caucasian individual who had been diagnosed with AD at or before the age of 65, although a more precise age at onset was not available. The mutation was not found in any of the controls screened (Sassi et al., 2014).

Neuropathology

One reported carrier of this variant had autopsy-confirmed AD. Further details have not been reported (Sassi et al., 2014).

Biological Effect

Unknown. In silico, this variant has been predicted to be “possibly damaging.” It is considered most likely a rare, benign polymorphism in APP because it occurs outside of exons 16 and 17, in which all of the pathogenic mutations known to date are located(Sassi et al., 2014). 

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References

Paper Citations

  1. . Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease. Neurobiol Aging. 2014 Oct;35(10):2422.e13-6. Epub 2014 May 2 PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease. Neurobiol Aging. 2014 Oct;35(10):2422.e13-6. Epub 2014 May 2 PubMed.

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