Mutations

PSEN1 G217D

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease, Parkinsonism
Genomic Mutation Name (MET1): g.44669G>A
Genomic Mutation Name (NT1): g.61275G>A
dbSNP ID: rs63750444
Coding/Non-Coding: Coding
Genomic Region: Exon 7
Mutation Type: Point, Missense
Codon Change: GGT to GAT

Findings

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Further Reading

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Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Genetic mutations associated with presenile dementia. Neurobiology of Aging 23 (1S): S322, 2002
  2. . A novel mutation (G217D) in the Presenilin 1 gene ( PSEN1) in a Japanese family: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum. Acta Neuropathol. 2002 Aug;104(2):155-70. PubMed.

Other mutations at this position

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