Mutations

PSEN1 R278K

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic, Spastic Paraparesis : Pathogenic
Clinical Phenotype: Alzheimer's Disease, Spastic Paraparesis
Genomic Mutation Name (MET1): g.50018G>A
Genomic Mutation Name (NT1): g.66624G>A
dbSNP ID: rs63749891
Coding/Non-Coding: Coding
Genomic Region: Exon 8
Mutation Type: Point, Missense
Codon Change: AGA to AAA

Findings

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Further Reading

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Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Pure spastic paraparesis associated with a novel presenilin 1 R278K mutation. Neurology. 2003 Jan 14;60(1):150. PubMed.

Other mutations at this position

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