Mutations

PSEN1 I143M

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.25632T>G
Genomic Mutation Name (NT1): g.42186T>G
dbSNP ID: rs63751071
Coding/Non-Coding: Coding
Genomic Region: Exon 5
Mutation Type: Point, Missense
Codon Change: ATT to ATG

Findings

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Further Reading

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Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Novel presenilin 1 mutation with profound neurofibrillary pathology in an indigenous South African family with early-onset Alzheimer's disease. Neurobiology of Aging 23 (1S): S321, 2002

Other mutations at this position

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