Link to the Reference Paper. The accession number of this mRNA is X99686
The following files contain the results of information analyses of mutations confirmed or predicted to result in mRNA splicing mutations in MECP2.
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 17:183190 (2001) RESEARCH ARTICLE Mutation Spectrum in Patients With Rett Syndrome 1in the German Population: Evidence of Hot Spot Regions F. Laccone,1* P. Huppke,2 F. Hanefeld,2 and M. Meins1 1 Institute of Human Genetics, Georg-August-University Göttingen, Göttingen, Germany 2 Neuropediatric Department, School of Medicine, Georg-August-University Göttingen, Göttingen, Germany
Automated Splice Analyses      home