Mutations

PSEN1 V94M

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.22965G>A
Genomic Mutation Name (NT1): g.39519G>A
dbSNP ID: rs63750831
Coding/Non-Coding: Coding
Genomic Region: Exon 4
Mutation Type: Point, Missense
Codon Change: GTG to ATG

Findings

This mutation was identified in a single patient from Colombia diagnosed with probable Alzheimer’s disease according to NINCDS-ADRDA criteria. The patient, known as patient 189, experienced symptom onset at age 53, but had no family history of dementia. Mutation segregation with the disease could not be determined as DNA from family members was unavailable. The reporting authors suspected pathogenicity based on the conservation of the amino acid in other species and the absence of the mutation in 53 control subjects (Arango et al., 2001).

Neuropathology

Unknown.

Biological Effect

Unknown.

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References

Paper Citations

  1. . Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia. Am J Med Genet. 2001 Oct 1;103(2):138-43. PubMed.

Further Reading

Papers

  1. . Presenilin mutations in a Colombian familial and sporadic AD sample. Neurobiology of Aging 21 Supp1: S176, 2000.

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia. Am J Med Genet. 2001 Oct 1;103(2):138-43. PubMed.