Mutations

APP P620L

Overview

Pathogenicity: Alzheimer's Disease : Not Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr21:27284103 C>T
dbSNP ID: NA
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: CCG to CTG
Reference Isoform: APP Isoform APP770 (770 aa)
Genomic Region: Exon 14

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 disease cases and 179 elderly controls free of AD pathology. It was detected in one individual with autopsy-confirmed AD with onset at age 65. Further clinical details were not available. The variant was absent in control subjects (Sassi et al., 2014).

Neuropathology

One reported carrier of the P620L variant had autopsy-confirmed AD. Further details have not been reported (Sassi et al., 2014).

Biological Effect

Unknown. In silico analysis suggests that this variant is "tolerated." It is considered most likely a rare, benign polymorphism in APP because it occurs outside of exon 16 and 17, where all 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.

Other mutations at this position

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