Mutations

PSEN1 A231P

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73659494 G>C
dbSNP ID: NA
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: GCC to CCC
Reference Isoform: PSEN1 isoform 1 (467 aa)
Genomic Region: Exon 7

Findings

This mutation was identified by whole exome sequencing in a French man diagnosed with Alzheimer’s disease according to NINDCS-ADRDA criteria (Nicolas et al., 2015). His symptoms began at age 53, and he developed a typical AD presentation. His APOE genotype was E3/E3. The patient’s paternal grandfather had dementia with an unknown age of onset. The patient’s father died at age 56 from cancer, therefore it is unclear if he would have developed AD in his later years.

Neuropathology

Unknown.

Biological Effect

Unknown. In silico, Polyphen-2 predicts this mutation to be damaging.

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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