Mutations

PSEN1 R352_S353insR

Overview

Pathogenicity: Frontotemporal Dementia : Unclear Pathogenicity
Clinical Phenotype: Frontotemporal Dementia
Reference Assembly: GRCh37 (105)
Position: Chr14:73678576 CGC>---
dbSNP ID: rs63750762
Coding/Non-Coding: Coding
Genomic Region: Exon 10
Mutation Type: Insertion
Codon Change: CGC.TCT to CGC.CGC.TCT

Findings

Comments

No Available Comments

Make a Comment

To make a comment you must login or register.

References

No Available References

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

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

Disclaimer: Alzforum does not provide medical advice. The Content is for informational, educational, research and reference purposes only and is not intended to substitute for professional medical advice, diagnosis or treatment. Always seek advice from a qualified physician or health care professional about any medical concern, and do not disregard professional medical advice because of anything you may read on Alzforum.

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.

Other mutations at this position

Alzpedia