Mutations

APP I716M

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr21:27264097 G>C
dbSNP ID: NA
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: ATC to ATG
Reference Isoform: APP Isoform APP770 (770 aa)
Genomic Region: Exon 17

Findings

This mutation was identified in a German individual of European descent diagnosed with early onset Alzheimer’s disease (Blauwendraat et al., 2015). This individual developed progressive memory impairment and orientation deficits at age 64. Other symptoms included rapid eye movement sleep behavior disorder and behavioral changes. Death occurred at age 70. This was a case of apparently sporadic AD; family history was negative for neurological disease. This individual also carried a novel mutation (A181T) in the gene CHMP2B, which encodes a component of the endosomal sorting complex, ESCRT-III.

Neuropathology

Unknown. MRI showed mild bilateral hippocampal atrophy.

Biological Effect

Unknown. In silico this mutation is predicted to be damaging.

Last Updated: 20 Nov 2015

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References

Paper Citations

  1. . Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants. Neurobiol Aging. 2016 Jan;37:208.e11-7. Epub 2015 Sep 30 PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants. Neurobiol Aging. 2016 Jan;37:208.e11-7. Epub 2015 Sep 30 PubMed.

Other mutations at this position

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