Mutations

PSEN1 L250V

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease, Myoclonus
Genomic Mutation Name (MET1): g.44767T>G
Genomic Mutation Name (NT1): g.61373T>G
dbSNP ID: rs63750634
Coding/Non-Coding: Coding
Genomic Region: Exon 7
Mutation Type: Point, Missense
Codon Change: TTG to GTG

Findings

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Further Reading

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Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . A novel mutation (L250V) in the presenilin 1 gene in a Japanese familial Alzheimer's disease with myoclonus and generalized convulsion. J Neurol Sci. 2003 May 15;209(1-2):75-7. PubMed.

Other mutations at this position

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