Mutations

PSEN1 T147I

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.25643C>T
Genomic Mutation Name (NT1): g.42197C>T
dbSNP ID: rs63750907
Coding/Non-Coding: Coding
Genomic Region: Exon 5
Mutation Type: Point, Missense
Codon Change: ACT to ATT

Findings

This mutation was detected in a French kindred ("Alz 047"), reported to have four affected individuals over three generations. The symptoms were described as being fairly typical of Alzheimer's disease with onset ranging from age 37 to 46 years. Segregation with disease was confirmed (Campion et al., 1999).

Neuropathology

Unknown.

Biological Effect

Unknown.

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References

Paper Citations

  1. . Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. Am J Hum Genet. 1999 Sep;65(3):664-70. PubMed.

Further Reading

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. Am J Hum Genet. 1999 Sep;65(3):664-70. PubMed.

Other mutations at this position

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