Mutations

PSEN1 869-1G>A

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73673093 G>A
dbSNP ID: NA
Coding/Non-Coding: Non-Coding
Mutation Type: Point
Reference Isoform: PSEN1 isoform 1 (467 aa)
Genomic Region: Intron 8/11

Findings

This intronic mutation was found in a U.K. genetic screen of more than 3,000 samples of patients with dementia (Koriath et al., 2018). The family of the mutation carrier had at least three members, including a first-degree relative, diagnosed with AD across two generations. The carrier’s AD symptoms emerged at age 57. The mutation was absent from genetic variant databases, including ExAC and gnomAD.

Neuropathology
Unknown

Biological Effect
The biological effect of this mutation is unknown. With a CADD score of 26.7, it is predicted to be amongst the top one percent of deleterious variants in the human genome. The Human Splice Finder algorithm predicts it disrupts splicing. Based on their proposed pathogenicity algorithm, Koriath and colleagues classified the mutation as likely deleterious.

Last Updated: 05 Jun 2019

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References

Paper Citations

  1. . Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series. Mol Psychiatry. 2018 Oct 2; PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series. Mol Psychiatry. 2018 Oct 2; PubMed.

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