Mutations

PSEN1 R278I

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease, Progressive Nonfluent Aphasia
Genomic Mutation Name (MET1): g.50018G>T
Genomic Mutation Name (NT1): g.66624G>T
dbSNP ID: rs63749891
Coding/Non-Coding: Coding
Genomic Region: Exon 8
Mutation Type: Point, Missense
Codon Change: AGA to ATA

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. . A presenilin 1 R278I mutation presenting with language impairment. Neurology. 2004 Nov 9;63(9):1702-4. PubMed.

Other mutations at this position

View Table