Mutations
PSEN1 S365Y
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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
Mutation Type: Point, Missense
Codon Change: TCC to TAC
Reference Isoform: PSEN1 isoform 1 (467 aa)
Genomic Region: Exon 10
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.
References
Paper Citations
- Rogaeva EA, Fafel KC, Song YQ, Medeiros H, Sato C, Liang Y, Richard E, Rogaev EI, Frommelt P, Sadovnick AD, Meschino W, Rockwood K, Boss MA, Mayeux R, St George-Hyslop P. 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 Citations
Further Reading
Learn More
Protein Diagram
Primary Papers
- Rogaeva EA, Fafel KC, Song YQ, Medeiros H, Sato C, Liang Y, Richard E, Rogaev EI, Frommelt P, Sadovnick AD, Meschino W, Rockwood K, Boss MA, Mayeux R, St George-Hyslop P. 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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