Mutations

PSEN2 A258T

Overview

Pathogenicity: Alzheimer's Disease : Not Pathogenic
Clinical Phenotype: None
Reference Assembly: GRCh37 (105)
Position: Chr1:227076735 G>A
dbSNP ID: rs148238688
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: GCC to ACC
Reference Isoform: PSEN2 isoform 1 (448 aa)
Genomic Region: Exon 7

Findings

This variant was detected in a control individual in a study assessing 72 AD cases and 58 controls (Frigerio et al., 2015).  There was no family history of dementia. The age of the mutation carrier was not reported, nor were details regarding his or her cognitive health. Classification as a control was based on a lack of significant AD pathology in the brain.

Neuropathology

Not applicable.

Biological Effect

Unknown. In silico, the A258T variant was predicted to be probably damaging by PolyPhen2.

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References

Other Citations

  1. Frigerio et al., 2015

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . On the identification of low allele frequency mosaic mutations in the brains of Alzheimer's disease patients. Alzheimers Dement. 2015 Apr 29; PubMed.

Other mutations at this position

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