Mutations

PSEN1 P284S

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease, Spastic Paraparesis
Genomic Mutation Name (MET1): g.50035C>T
Genomic Mutation Name (NT1): g.66641C>T
dbSNP ID: rs63750324
Coding/Non-Coding: Coding
Genomic Region: Exon 8
Mutation Type: Point, Missense
Codon Change: CCA to TCA

Findings

Comments

Make a Comment

To make a comment you must login or register.

Comments on this content

No Available Comments

References

No Available References

Further Reading

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Dementia, pyramidal system involvement, and leukoencephalopathy with a presenilin 1 mutation. Neurology. 2006 Jan 10;66(1):108-11. PubMed.

Other mutations at this position

View Table