Mutations

PSEN1 M146L (A>T)

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.25639A>T
Genomic Mutation Name (NT1): g.42193A>T
dbSNP ID: rs63750306
Coding/Non-Coding: Coding
Genomic Region: Exon 5
Mutation Type: Point, Missense
Codon Change: ATG to TTG

Findings

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Further Reading

Papers

  1. . Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology. 2001 Aug 28;57(4):621-5. PubMed.

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Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Presenilin 1 Met146Leu variant due to an A --> T transversion in an early-onset familial Alzheimer's disease pedigree from Argentina. Clin Genet. 1998 Jun;53(6):469-73. PubMed.

Other mutations at this position

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