Mutations

PSEN1 L173W

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73653598 T>G
dbSNP ID: rs63750299
Coding/Non-Coding: Coding
Genomic Region: Exon 6
Mutation Type: Point, Missense
Codon Change: TTG to TGG

Findings

This mutation was detected in two members of a French family (ROU 118) affected by early onset Alzheimer's disease (Campion et al., 1999). The two affected individuals were a parent and child dyad, with onset at ages 24 and 29. Further clinical details were not reported. The APOE genotype of the index case was ε2/ε4.

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

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

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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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