Mutations

PSEN2 N141S

Overview

Pathogenicity: Alzheimer's Disease : Not Classified
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37/hg19
Position: Chr1:227073304 A>G
dbSNP ID: NA
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: AAC to AGC
Reference Isoform: PSEN2 Isoform 1 (448 aa)
Genomic Region: Exon 6

Findings

This variant was found in a Han Chinese woman with Alzheimer’s disease and a family history of dementia (Mao et al., 2021). Her age at onset was 52 years. She had an APOE3/E4 genotype.

This mutation is absent from the gnomAD variant database (v2.1.1, Oct 2021).

Neuropathology
Unknown.

Biological Effect
Multiple in silico algorithms (SIFT, Polyphen, LTR) predicted this variant is damaging or possibly damaging (Mao et al., 2021) and, consistently, its PHRED-scaled CADD score, which integrates diverse information in silico, was above 20 (CADD v.1.6, Oct 2021). Mao and colleagues classified it as likely pathogenic. Of note, the first pathogenic mutation described in PSEN2 maps to the same residue, PSEN2 N141I (Volga German).

Last Updated: 26 Oct 2021

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References

Mutations Citations

  1. PSEN2 N141I

Paper Citations

  1. . Clinical Phenotype and Mutation Spectrum of Alzheimer's Disease with Causative Genetic Mutation in a Chinese Cohort. Curr Alzheimer Res. 2021;18(3):265-272. PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . Clinical Phenotype and Mutation Spectrum of Alzheimer's Disease with Causative Genetic Mutation in a Chinese Cohort. Curr Alzheimer Res. 2021;18(3):265-272. PubMed.

Other mutations at this position

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