Mutations

PSEN1 L282F

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73664813 C>T
dbSNP ID: NA
Coding/Non-Coding: Coding
Genomic Region: Exon 8
Mutation Type: Point, Missense
Codon Change: CTT to TTT

Findings

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References

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Further Reading

Papers

  1. . Derivation of induced pluripotent stem cells from a familial Alzheimer's disease patient carrying the L282F mutation in presenilin 1. Stem Cell Res. 2016 Sep 28;17(3):470-473. PubMed.

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . A novel presenilin 1 mutation (L282F) in familial Alzheimer's disease. J Neurol. 2009 Sep;256(9):1575-7. PubMed.

Other mutations at this position

Alzpedia