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 USH1c.
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
Reference: Human mutation 17:34_41 (2001) Research article: Identification of Three Novel Mutations in the USH1C Gene and Detection of Thirty-One Polymorphisms Used for Haplotype Analysis Ingrid Zwaenepoel,1 Elisabeth Verpy,1 Stéphane Blanchard,1 Moritz Meins,2 Eckart Apfelstedt-Sylla,3 Andreas Gal,2 and Christine Petit1* 1 Unité de Génétique des Déficits Sensoriels, CNRS URA 1968, Institut Pasteur, Paris, France 2 Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany 3 University Eye Hospital, Department II, Tübingen, Germany