Mutations

PSEN1 L271V

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.49996C>G
Genomic Mutation Name (NT1): g.66602C>G
dbSNP ID: rs63750886
Coding/Non-Coding: Coding
Genomic Region: Exon 8
Mutation Type: Point, Missense
Codon Change: CTG to GTG

Findings

Neuropathology

Cotton wool plaques have been observed (Kwok et al., 2003).

Biological Effect

This mutation affects splicing of exon 8 such that the in-frame deletion of exon 8 is enhanced in trancripts. It also results in an amino acid replacement (D257A) at the splice junction of exon 7 and 9. In vitro studies have not shown an affect on Aβ production (Morihara et al., 2000).

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References

Paper Citations

  1. . Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy. J Biol Chem. 2003 Feb 28;278(9):6748-54. PubMed.
  2. . Absence of endoproteolysis but no effects on amyloid beta production by alternative splicing forms of presenilin-1, which lack exon 8 and replace D257A. Brain Res Mol Brain Res. 2000 Dec 28;85(1-2):85-90. PubMed.

Further Reading

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy. J Biol Chem. 2003 Feb 28;278(9):6748-54. PubMed.