Mutations

PSEN1 M233L (A>C)

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.44716A>C
Genomic Mutation Name (NT1): g.61322A>C
dbSNP ID: rs63751287
Coding/Non-Coding: Coding
Genomic Region: Exon 7
Mutation Type: Point, Missense
Codon Change: ATG to CTG

Findings

This mutation was first detected in an individual from Spain who met NINCDS-ADRDA criteria for Alzheimer’s disease (McKhann et al., 1984). Symptom onset occurred at age 46; further clinical details were not reported. The patient did not have a family history of dementia, and segregation with disease could not be assessed (Aldudo et al., 1999).

This mutation was subsequently found in another individual. Clinical details were not reported (Rogaeva et al., 2001).

The pathogenicity of the M233L (A>C) mutation could not be confirmed, but factors in support of pathogenicity include the fact that other pathogenic mutations (e.g. M233T) have been described at codon 233, and a pathogenic mutation (M239V) has been documented at the homologous codon in PSEN2.

Neuropathology

Unknown.

Biological Effect

Unknown.

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References

Mutations Citations

  1. PSEN1 M233T
  2. PSEN2 M239V

Paper Citations

  1. . Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology. 1984 Jul;34(7):939-44. PubMed.
  2. . DGGE method for the mutational analysis of the coding and proximal promoter regions of the Alzheimer's disease presenilin-1 gene: two novel mutations. Hum Mutat. 1999;14(5):433-9. PubMed.
  3. . Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology. 2001 Aug 28;57(4):621-5. PubMed.

Further Reading

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database