Mutations

PSEN1 S365Y

Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73678615 C>A
dbSNP ID: rs63750941
Coding/Non-Coding: Coding
Genomic Region: Exon 10
Mutation Type: Point, Missense
Codon Change: TCC to TAC

Findings

The S365Y mutation was found in one individual with Alzheimer's disease. Further details were not provided, except that it was co-inherited with a second PSEN1 mutation, M146V (Rogaeva et al., 2001).

Neuropathology

Unknown.

Biological Effect

Unknown.

Comments

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References

Mutations Citations

  1. PSEN1 S365Y
  2. PSEN1 M146V

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

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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

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