Mutations

APP V562I

Overview

Pathogenicity: Alzheimer's Disease : Not Pathogenic
Clinical Phenotype: None
Reference Assembly: GRCh37 (105)
Position: Chr21:27326907 G>A
dbSNP ID: rs199586073
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: GTT to ATT
Reference Isoform: APP Isoform APP770 (770 aa)
Genomic Region: Exon 13

Findings

This variant in APP was found in an exome sequencing study of 141 individuals with late-onset Alzheimer’s disease and 179 elderly controls without significant neuropathology. The variant was detected in one Caucasian control individual who was at least 60 years old at death. Further clinical details were not available. APOE genotype was ε3/ε3 (Sassi et al., 2014).

Neuropathology

Not applicable.

Biological Effect

Unknown. In silico, this variant is predicted to be "tolerated." It is classified as a benign polymorphism according to the algorithm proposed by Guerreiro et al., 2010 (Sassi et al., 2014).

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References

Paper Citations

  1. . Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease. Neurobiol Aging. 2014 Dec;35(12):2881.e1-6. Epub 2014 Jun 16 PubMed.
  2. . Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. Neurobiol Aging. 2010 May;31(5):725-31. Epub 2008 Jul 30 PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease. Neurobiol Aging. 2014 Dec;35(12):2881.e1-6. Epub 2014 Jun 16 PubMed.

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