Link to the
Reference Paper. The accession number of this mRNA is
The following files contain the results of information analyses of mutations confirmed or predicted to result in mRNA splicing mutations in MTM1.
These include potential cryptic splice sites.
Donor: sites found that alter the information content of donorsites
Acceptor: sites found that alter the information content of acceptor sites
Unparsable Inconsistencies between the described mutation and the human genome reference sequence, "presently not posted"
Total: sites found that alter the information ocontent of both acceptor and donor sites are listed according to the mutation
Original: : Original Mutation Table
References: 14 HERMAN ET AL. HUMAN MUTATION 19:114121 (2002) RESEARCH ARTICLE: Characterization of Mutations in Fifty North American Patients With X-linked Myotubular Myopathy Gail E. Herman,1* Kevin Kopacz,1 Wei Zhao,1 Patti L. Mills,2 Aida Metzenberg,3 and Soma Das2 1 Childrenís Research Institute and the Department of Pediatrics, The Ohio State University, Columbus, Ohio 2 Department of Human Genetics, University of Chicago, Chicago, Illinois 3 Department of Biology, California State University, Northridge, California Communicated by Jean-Louis Mandel
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