ACTA1 Locus Specific Database

Brief description

The skeletal muscle alpha-actin gene (ACTA1) Locus Specific Database is held at the Molecular Neurogenetics Laboratory at the Western Australian Institute for Medical Research (WAIMR). The aim of the database is to be a useful resource for clinicians and laboratories working with the skeletal muscle alpha-actin gene (ACTA1). It catalogues all ACTA1 mutations and polymorphisms known to the WAIMR Molecular Neurogenetics Laboratory, with information as to the disease phenotype(s) associated with each mutation, how often the mutation has been identified, the certainty of the pathogenicity of the mutation, which laboratory or laboratories have identified the mutation, etc. The amino acids variations are numbered starting from the initiator methionine in accordance with current Human Genome Variation Society nomenclature guidelines (ie including the first two amino acids removed to form the mature protein). Those familiar with the amino acid numbering based on the mature actin protein amino acid sequence will have to subtract 2 from the amino-acid numbering in the database in order to recognize the amino-acid being referred to. The database summary tables contain a summary of all sequence variants in the ACTA1 database, sorted by type of variant (with graphical displays and statistics). The Reading-frame checker generates a prediction of the effect of whole-exon changes The database can be searched by selecting the most important variables (exon number, type of variant, disease phenotype) or through an advanced search.