Mutations

PSEN2 A258V

Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr1:227076736 C>T
dbSNP ID: rs14443227784
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: GCC to GTC
Reference Isoform: PSEN2 isoform 1 (448 aa)
Genomic Region: Exon 7

Findings

This variant was found in a Japanese individual diagnosed with probable AD and a family history of dementia (Yagi et al., 2014). The mutation was absent from 112 Japanese controls and from 147 patients with diseases other than AD. It was also absent from the variant databases dbSNP137 and 1000 genomes.

Neuropathology
Unknown.

Biological Effect
The biological effect of this mutation is unknown, but it was not predicted to be pathogenic by either SIFT, PolyPhen2, or Pmut.

Last Updated: 31 Oct 2019

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References

Paper Citations

  1. . Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing. Neurobiol Aging. 2014 Jul;35(7):1780.e1-5. Epub 2014 Jan 25 PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing. Neurobiol Aging. 2014 Jul;35(7):1780.e1-5. Epub 2014 Jan 25 PubMed.

Other mutations at this position

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