Mutations

PSEN2 c.887-3C>T

Overview

Pathogenicity: Alzheimer's Disease : Not Classified
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37/hg19
Position: Chr1:227078976 C>T
dbSNP ID: rs1230394996
Coding/Non-Coding: Non-Coding
Mutation Type: Point
Reference Isoform: PSEN2 Isoform 1 (448 aa)
Genomic Region: Intron 9

Findings

This splice-site mutation was found in a Han Chinese individual diagnosed with probable AD according to the NINCDS-ADRDA and DSM-IV criteria (Wang et al., 2019).  The patient had a family history of AD and was APOE4 positive. Age at onset was 81 years. The mutation was absent from 160 controls and from the gnomAD variant database (v2.1.1, Nov 2021).

Neuropathology
Unknown

Biological Effect
The biological effect of this mutation is unknown, but in silico analysis indicated a low likelihood of being deleterious (PHRED-scaled CADD score of 9.977). The pathogenicity of the mutation was described as unclear given the late age at onset and the presence of an APOE4 allele (Wang et al., 2019).

Last Updated: 09 Nov 2021

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References

Paper Citations

  1. . Mutation and association analyses of dementia-causal genes in Han Chinese patients with early-onset and familial Alzheimer's disease. J Psychiatr Res. 2019 Jun;113:141-147. Epub 2019 Mar 30 PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . Mutation and association analyses of dementia-causal genes in Han Chinese patients with early-onset and familial Alzheimer's disease. J Psychiatr Res. 2019 Jun;113:141-147. Epub 2019 Mar 30 PubMed.

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