Mutations

PSEN1 V96F

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.22971G>T
Genomic Mutation Name (NT1): g.39525G>T
dbSNP ID: rs63750601
Coding/Non-Coding: Coding
Genomic Region: Exon 4
Mutation Type: Point, Missense
Codon Change: GTC to TTC

Findings

This rare mutation was identified in a single Japanese family. The reported pedigree consisted of four affected family members over three generations. All affected individuals had early-onset Alzheimer’s disease with a mean age at onset of 52.5 ± 5.07 years (range: 49-60 years). The mutation was not found in unaffected family members or in 100 control individuals (Kamino et al., 1996).

Neuropathology

Unknown.

Biological Effect

Unknown.

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References

Paper Citations

  1. . Three different mutations of presenilin 1 gene in early-onset Alzheimer's disease families. Neurosci Lett. 1996 Apr 26;208(3):195-8. PubMed.

Further Reading

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Three different mutations of presenilin 1 gene in early-onset Alzheimer's disease families. Neurosci Lett. 1996 Apr 26;208(3):195-8. PubMed.