Mutations

PSEN2 R29H

Overview

Pathogenicity: Alzheimer's Disease : Not Classified
Clinical Phenotype: None
Reference Assembly: GRCh37/hg19
Position: Chr1:227069694 G>A
dbSNP ID: NA
Coding/Non-Coding: Coding
Mutation Type: Point
Codon Change: CGC to CAC
Reference Isoform: PSEN2 Isoform 1 (448 aa)
Genomic Region: Exon 4

Findings

This variant was identified in one African individual from the Mandenka population (Guerreiro et al., 2010). Three heterozygotes of African ancestry were reported in the gnomAD variant database (v2.1.1, Oct 2021). The variant's global frequency was 0.00001195. 

Neuropathology

Not applicable.

Biological Effect

The biological effects of this variant are unknown, but its PHRED-scaled CADD score, which integrates diverse information in silico, was above 20, suggesting a deleterious effect (CADD v.1.6, Oct 2021). The in silico algorithm Polyphen predicted it is probably damaging, but SIFT predicted it is tolerated (Hsu et al., 2020).

Last Updated: 03 Dec 2021

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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.
  2. . Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2. Neurobiol Dis. 2020 Jun;139:104817. Epub 2020 Feb 19 PubMed.

Further Reading

No Available Further Reading

Protein Diagram

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.

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