The 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 NEM3, SHPM
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Kristen Nowak and Nigel Laing
Total number of public variants reported 475
Unique public DNA variants reported 304
Individuals with public variants 465
Hidden variants 5
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 November 23, 2023
Version ACTA1:231123

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 NEM3 (myopathy, nemaline, type 3 (NEM-3))
SHPM (?Myopathy, scapulohumeroperoneal)
HGMD ACTA1
GeneCards ACTA1
GeneTests ACTA1
Orphanet ACTA1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00002013 1 actin, alpha 1, skeletal muscle NM_001100.3 NP_001091.1 475


Copyright & disclaimer
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