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ACTA1 Locus specific database
Welcome to the skeletal muscle alpha-actin gene (ACTA1) Locus Specific Database held at the Neurogenetic diseases Laboratory at the Harry Perkins Institute of Medical Research.
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 Perkins 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 can be launched from the following link:
In order to keep the list of ACTA1 variations up-to-date and therefore of maximum benefit to individuals accessing the database, I would be grateful if any laboratory around the world that identifies an ACTA1 variation would submit the variant through the database, or email me (firstname.lastname@example.org) the details of the variation: whether it is has been shown to be a pathological mutation, or a polymorphism; the phenotype(s) caused by the mutation; how the mutation was identified; the origin of the mutation, eg. has it been shown to be a de novo mutation; mode of inheritance; whether the mutation has been published.
Please also email me with any suggestions as to what further information you might like to have on the database.
Lists of locus-specific databases may be obtained from:
Human Gene Mutation Database
Nigel G Laing
Neurogenetic diseases Laboratory
Harry Perkins Institute of Medical Research
QQ Block, QEII Medical Centre
6 Verdun St
Western Australia 6009