Mutations

PSEN1 R352_S353insR

Overview

Pathogenicity: Frontotemporal Dementia : Unclear Pathogenicity
Clinical Phenotype: Frontotemporal Dementia
Genomic Mutation Name (MET1): g.63786_63787insTCG
Genomic Mutation Name (NT1): g.80398_80399insTCG
dbSNP ID: rs63750762
Coding/Non-Coding: Coding
Genomic Region: Exon 10
Mutation Type: Insertion
Codon Change: CGC.TCT to CGC.CGC.TCT

Findings

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Further Reading

Papers

  1. . Mutations in progranulin explain atypical phenotypes with variants in MAPT. Brain. 2006 Nov;129(Pt 11):3124-6. PubMed.

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary 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.
  2. . Familial frontotemporal dementia associated with a novel presenilin-1 mutation. Dement Geriatr Cogn Disord. 2002;14(1):13-21. PubMed.
  3. . A presenilin 1 mutation associated with familial frontotemporal dementia inhibits gamma-secretase cleavage of APP and notch. Neurobiol Dis. 2002 Mar;9(2):269-73. PubMed.