Mutations

PSEN1 R278T

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease, Spastic Paraparesis
Genomic Mutation Name (MET1): g.50018G>C
Genomic Mutation Name (NT1): g.66624G>C
dbSNP ID: rs63749891
Coding/Non-Coding: Coding
Genomic Region: R278T
Mutation Type: Point, Missense
Codon Change: AGA to ACA

Findings

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Further Reading

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Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype. Neuroreport. 1997 Apr 14;8(6):1537-42. PubMed.

Other mutations at this position

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