Mutations

PSEN1 S390N

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73683873 G>A
dbSNP ID: NA
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: AGT to AAT
Reference Isoform: PSEN1 isoform 1 (467 aa)
Genomic Region: Exon 11

Findings

This mutation was identified by whole exome sequencing in a Frenchman diagnosed with Alzheimer’s disease according to NINDCS-ADRDA criteria (Nicolas et al., 2015). He was 55 years old when he developed symptoms, namely memory decline associated with progressive behavioral changes. His APOE genotype was E2/E4. His family history was unclear. His father died at age 68 from cancer with no apparent cognitive decline. His paternal aunt developed AD at age 65.

Neuropathology

Unknown. MRI showed cerebral amyloid angiopathy (Nicolas et al., 2015).

Biological Effect

Unknown.

Last Updated: 28 Aug 2015

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References

Paper Citations

  1. . Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons. Eur J Hum Genet. 2015 Aug 5; PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons. Eur J Hum Genet. 2015 Aug 5; PubMed.

Other mutations at this position

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