Mutations

PSEN1 G209E

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genome Build: GRCh37 (105)
Position: Chr14:73659429 G>A
dbSNP ID: rs63750053
Coding/Non-Coding: Coding
Genomic Region: Exon 7
Mutation Type: Point, Missense
Codon Change: GGA to GAA

Findings

This mutation was found in an individual with Alzheimer’s disease (Rogaeva et al., 2001). No further information was reported.

Neuropathology

Unknown.

Biological Effect

Unknown.

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References

Paper Citations

  1. . Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology. 2001 Aug 28;57(4):621-5. PubMed.

Further Reading

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology. 2001 Aug 28;57(4):621-5. PubMed.

Other mutations at this position

Alzpedia