Mutations

PSEN1 L171P

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73653592 T>C
dbSNP ID: rs63750963
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: CTA to CCA
Reference Isoform: PSEN1 isoform 1 (467 aa)
Genomic Region: Exon 6

Findings

This mutation was found in a Mexican family with early onset AD (Ramirez-Duenas et al., 1998). It was also found in a study of British AD patients with at least one affected first-degree relative, and an age of onset of less than 61 years (Janssen et al., 2003). The family of this proband had three affected members spanning three generations, with a mean age at onset of 38 years.

Biological Effect

In an in vitro assay with isolated proteins, this mutant produced less Aβ42 than wild-type PSEN1, and Aβ40 production was undetectable (Sun et al., 2017).

Last Updated: 22 Sep 2019

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References

Paper Citations

  1. . A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer disease. Ann Genet. 1998;41(3):149-53. PubMed.
  2. . Early onset familial Alzheimer's disease: Mutation frequency in 31 families. Neurology. 2003 Jan 28;60(2):235-9. PubMed.
  3. . 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.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer disease. Ann Genet. 1998;41(3):149-53. PubMed.

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