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 RPGR.
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
MUTATION IN BRIEF Published Online: 23 Jan 2001 HUMAN MUTATION Mutation in Brief #396 (2000) Online Five Novel RPGR Mutations in Families with XLinked Retinitis Pigmentosa Maria Guevara-Fujita1, Stacey Fahrner1, Kinga Buraczynska1, Jason Cook1, Dianna Wheaton2, Fanny Cortes3, Cesar Vicencio 3, Marcela Pena3, Gerald A. Fishman4, Helen Mintz-Hittner5, David Birch2, Dennis Hoffman2, Alan J. Mears1, Ricardo Fujita1,6 and Anand Swaroop1,7 1 Departments of Ophthalmology & Visual Sciences and 7Human Genetics, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, USA; 2 Retina Foundation of the Southwest, Dallas, TX, USA; 3 INTA Universidad de Chile, Santiago, Chile; 4 University of Illinois Eye and Ear Infirmary, Chicago, IL, USA; 5 Department of Ophthalmology and Visual Sciences, University of Texas, Houston, TX, USA; 6 Facultad de Medicina, Universidad San Martin de Porres, Lima, Peru.
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