Mutations

PSEN1 L250V

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic, Myoclonus : Pathogenic
Clinical Phenotype: Alzheimer's Disease, Myoclonus
Reference Assembly: GRCh37 (105)
Position: Chr14:73659551 T>G
dbSNP ID: rs63750634
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: TTG to GTG
Reference Isoform: PSEN1 isoform 1 (467 aa)
Genomic Region: Exon 7

Findings

Last Updated: 21 Feb 2019

Comments

No Available Comments

Make a Comment

To make a comment you must login or register.

References

No Available References

Further Reading

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

Protein Diagram

Primary Papers

  1. Furuya H, Yasuda M, Terasawa KJ, Tanaka K, Murai H, Kira J, Ohyagi Y. 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

View Table

Alzpedia

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.