Mutations

PSEN1 F105I

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.22998T>A
Genomic Mutation Name (NT1): g.39552T>A
dbSNP ID: rs63750325
Coding/Non-Coding: Coding
Genomic Region: Exon 4
Mutation Type: Point, Missense
Codon Change: TTT to ATT

Findings

This mutation was identified in a family known as Alz 184. The three reported affected members of this family met NINCDS-ADRDA criteria for probable or definite Alzheimer’s disease. The age at onset ranged from 53 to 58 years (Raux et al., 2005).

Neuropathology

Unknown.

Biological Effect

Unknown.

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References

Paper Citations

  1. . Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update. J Med Genet. 2005 Oct;42(10):793-5. Epub 2005 Jul 20 PubMed.

Further Reading

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update. J Med Genet. 2005 Oct;42(10):793-5. Epub 2005 Jul 20 PubMed.

Other mutations at this position

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