Mutations

PSEN1 Q222H

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73659469 G>C
dbSNP ID: rs63751072
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: CAG to CAC
Reference Isoform: PSEN1 isoform 1 (467 aa)
Genomic Region: Exon 7

Findings

This mutation was found in an Australian woman diagnosed with dementia at 35 years of age (Miklossy et al., 2003). She subsequently developed seizures, aphasia, decreasing mobility, and swallowing difficulties. Three family members also developed dementia in their late 30s or early 40s. The proband’s daughter was found to carry the mutation, but was asymptomatic at age 30. The mutation was absent from 100 unrelated controls.

Neuropathology
Neuropathology was consistent with AD in the proband.

Biological Effect
In the proband, Aβ42 but not Aβ40, was detectable by immunoblot and ELISA in frontal cortex homogenates.

Last Updated: 11 Apr 2019

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References

Paper Citations

  1. . Two novel presenilin-1 mutations (Y256S and Q222H) are associated with early-onset Alzheimer's disease. Neurobiol Aging. 2003 Sep;24(5):655-62. PubMed.

Further Reading

Papers

  1. . Redox proteomics identification of oxidatively modified brain proteins in inherited Alzheimer's disease: an initial assessment. J Alzheimers Dis. 2006 Dec;10(4):391-7. PubMed.

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

Protein Diagram

Primary Papers

  1. . Two novel presenilin-1 mutations (Y256S and Q222H) are associated with early-onset Alzheimer's disease. Neurobiol Aging. 2003 Sep;24(5):655-62. PubMed.

Other mutations at this position

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