Mutations

PSEN2 L143H

Overview

Pathogenicity: Alzheimer's Disease : Not Pathogenic
Clinical Phenotype: None
Genomic Mutation Name (MET1): g.3700T>A
Genomic Mutation Name (NT1): g.20038T>A
dbSNP ID:
Coding/Non-Coding: Coding
Genomic Region: Exon 5
Mutation Type: Point, Missense
Codon Change: CTC to CAC

Findings

This variant was found in a cognitively healthy African individual from the Bantu population. It alters a residue that is not conserved between PSEN1 and PSEN2 (A137 in PSEN1), and is located in the second transmembrane domain of the protein. It is thought to be a benign polymorphism (Guerreiro et al., 2010).

Neuropathology

Not applicable.

Biological Effect

Unknown.

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References

Paper Citations

  1. . Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. Neurobiol Aging. 2010 May;31(5):725-31. Epub 2008 Jul 30 PubMed.

Further Reading

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. Neurobiol Aging. 2010 May;31(5):725-31. Epub 2008 Jul 30 PubMed.