Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73659546 T>G
dbSNP ID: NA
Mutation Type: Point, Missense
Codon Change: CTC to CGC
Reference Isoform: PSEN1 isoform 1 (467 aa)
Genomic Region: Exon 7
This mutation was found in a man who presented with AD symptoms at age 54, with no known family history of the disease.
Although neuropathology findings are unavailable, the patient showed atrophy in the lateral fissure and, to a lesser extent, in parietofrontal regions as assessed by neuroimaging.
Last Updated: 01 Mar 2019
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- 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.
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