Mutations

PSEN1 I439V

Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73685908 A>G
dbSNP ID: rs63750249
Coding/Non-Coding: Coding
Genomic Region: Exon 12
Mutation Type: Point, Missense
Codon Change: ATC to GTC

Findings

This mutation was found in two sisters affected by early onset Alzheimer's disease (Rogaeva et al., 2001). They inherited the mutation from their mother, who was asymptomatic at age 55. Interestingly, both sisters also carried a second PSEN1 mutation, I143T, which they inherited from their father. Information related to his clinical history was not reported. Both sisters developed symptoms before age 35.

Neuropathology

Unknown.

Biological Effect

Unknown.

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References

Mutations Citations

  1. PSEN1 I143T

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