Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73683873 G>T
dbSNP ID: rs63750883
Mutation Type: Point, Missense
Codon Change: AGT to ATT
Reference Isoform: PSEN1 isoform 1 (467 aa)
Genomic Region: Exon 11
An in vitro assay using purified proteins to test the ability of this mutant to cleave the APP-C99 substrate revealed a drastic decrease in production of both Aβ40 and Aβ42 compared with wild-type PSEN1 (Sun et al., 2017).
Last Updated: 21 Feb 2019
- Sun L, Zhou R, Yang G, Shi Y. Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase. Proc Natl Acad Sci U S A. 2017 Jan 24;114(4):E476-E485. Epub 2016 Dec 5 PubMed.
- Campion D, Dumanchin C, Hannequin D, Dubois B, Belliard S, Puel M, Thomas-Anterion C, Michon A, Martin C, Charbonnier F, Raux G, Camuzat A, Penet C, Mesnage V, Martinez M, Clerget-Darpoux F, Brice A, Frebourg T. Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. Am J Hum Genet. 1999 Sep;65(3):664-70. PubMed.
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