Mutations

PSEN1 L392P

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73683879 T>C
dbSNP ID: rs63750218
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: CTG to CCG
Reference Isoform: PSEN1 isoform 1 (467 aa)
Genomic Region: Exon 11

Findings

This mutation was found in an Italian man with a family history of AD with psychiatric symptoms (Tedde et al., 2000). In four family members, spanning three generations, disease onset was characterized by bipolar affective symptoms and mild memory loss occurring, on average, at 38 years of age. The mutation was present in the proband and absent from 50 unrelated subjects.

Neuropathology
Neuropathological data are unavailable, but MRI revealed moderate atrophy of the temporal lobes in a symptomatic family member.

Biological Effect
The biological effect of this mutation is unknown, but it is in a domain that binds several proteins, including β-catenin and neuronal plakophilin-related armadillo protein/δ-catenin.

Last Updated: 26 Apr 2019

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References

Paper Citations

  1. . A presenilin-1 mutation (Leu392Pro) in a familial AD kindred with psychiatric symptoms at onset. Neurology. 2000 Nov 28;55(10):1590-1. PubMed.

Further Reading

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

Protein Diagram

Primary Papers

  1. . A presenilin-1 mutation (Leu392Pro) in a familial AD kindred with psychiatric symptoms at onset. Neurology. 2000 Nov 28;55(10):1590-1. PubMed.

Other mutations at this position

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