Mutations

PSEN2 G34S

Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): 100G>A
Genomic Mutation Name (NT1): 16436G>A
dbSNP ID:
Coding/Non-Coding: Coding
Genomic Region: Exon 3
Mutation Type: Point
Codon Change: GGC to AGC

Findings

This variant was identified in a Caucasian patient from the Netherlands affected by probable late-onset Alzheimer's disease. It did not segregate with disease in this family so whether it contributes to pathogenicity is unclear (Sleegers et al., 2004).

Neuropathology

Unknown.

Biological Effect

This variant does not appear to alter the ratio of Aβ42/Aβ40 (Sleegers et al., 2004).

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References

Paper Citations

  1. . Familial clustering and genetic risk for dementia in a genetically isolated Dutch population. Brain. 2004 Jul;127(Pt 7):1641-9. Epub 2004 May 6 PubMed.

Further Reading

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Familial clustering and genetic risk for dementia in a genetically isolated Dutch population. Brain. 2004 Jul;127(Pt 7):1641-9. Epub 2004 May 6 PubMed.