Mutations

PSEN1 I227V

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73659482 A>G
dbSNP ID: rs199842082
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: ATT to GTT
Reference Isoform: PSEN1 isoform 1 (467 aa)
Genomic Region: Exon 7

Findings

This mutation was identified in a genetic screen of 757 patients in the U.K. with early onset AD (Koriath et al., 2018). It is also found in the gnomAD variant database with an allele count of four and a frequency of 0.000014. Its calculated penetrance is 2.88 percent (0.3, 26.9% CI). The variant was classified as likely deleterious following the guidelines published by Richards et al., 2015.

Last Updated: 20 Aug 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.
  2. . Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-24. Epub 2015 Mar 5 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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