ACTA1 gene homepage

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
General information
Gene symbol ACTA1
Gene name actin, alpha 1, skeletal muscle
Chromosome 1
Chromosomal band q42.13
Imprinted Unknown
Genomic reference NG_006672.1
Transcript reference NM_001100.3
Exon/intron information NM_001100.3 exon/intron table
Associated with diseases CFTD, NEM-3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Nigel Laing & Kristen Nowak
Total number of public variants reported 422
Unique public DNA variants reported 276
Individuals with public variants 415
Hidden variants 0
Download all this gene's data Download all data
Notes This is the Laing lab ACTA1 mutation database originally initiated at the Western Australian Institute for Medical Research (WAIMR). For conveniance it has been combined with other muscle-related gene variant databases from the:
Date created September 25, 2007
Date last updated December 06, 2017
Version ACTA1:171206

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001100.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.DMD.nl/ACTA1
External URL Western Australian Institute for Medical Research (WAIMR)
HGNC 129
Entrez Gene 58
PubMed articles ACTA1
OMIM - Gene 102610
OMIM - Diseases CFTD (myopathy, congenital, with fiber type disproportion (CFTD))
NEM-3 (myopathy, nemaline, type 3 (NEM-3))
HGMD ACTA1
GeneCards ACTA1
GeneTests ACTA1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00002013 1 actin, alpha 1, skeletal muscle NM_001100.3 NP_001091.1 422


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2007-2018. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.