Mutations

APP Y538H

Overview

Pathogenicity: Alzheimer's Disease : Not Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr21:27326977 T>C
dbSNP ID: NA
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: TAT to CAT
Reference Isoform: APP Isoform APP770 (770 aa)
Genomic Region: Exon 13

Findings

This variant 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 found in a Caucasian individual diagnosed with AD at the age of 69. Death occurred at age 77. APOE genotype was ε3/ε4. Family history information was not reported. This variant was absent in the 179 controls screened (Sassi et al., 2014).

Neuropathology

Unknown.

Biological Effect

Unknown. In silico, this variant is predicted to be "possibly damaging." It is classified as a "likely 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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