Mutations

PSEN1 Y154N

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease, Spastic Paraparesis
Reference Assembly: GRCh37 (105)
Position: Chr14:73640395 T>A
dbSNP ID: rs63750588
Coding/Non-Coding: Coding
Genomic Region: Exon 5
Mutation Type: Point, Missense
Codon Change: TAT to AAT

Findings

Comments

  1. This paper shows, one more time, that the very first clinical symptoms of FAD with early onset are not necessarily linked to memory.

    View all comments by Andre Delacourte

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References

No Available References

Further Reading

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Primary Papers

  1. . A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis. Neurosci Lett. 2004 Sep 30;368(3):319-22. PubMed.

Other mutations at this position

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