Accession number: X99686
Gene: MECP
Chromosome: chrm_23

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 MECP.
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:

 MUTATION UPDATE 

 Mutations of FBN1 and Genotype Phenotype Correlations in Marfan Syndrome and Related Fibrillinopathies 

 Peter N. Robinson,1,3 Patrick Booms,1,3 Stefanie Katzke,1,3 Markus Ladewig,4 Luitgard Neumann,2 Monika Palz,3

 Reinhard Pregla,5 Frank Tiecke,3 and Thomas Rosenberg6 

 1 Institute of Medical Genetics, Department of General Pediatrics, Charite´ University Hospital, Berlin, Germany; 

 2 Institute of Human Genetics, Department of General Pediatrics, Charite´ University Hospital, Berlin, Germany;

 3 Laboratory of Pediatric Molecular Biology, Department of General Pediatrics, 

   Charite´ University Hospital, Berlin, Germany; 

 4 Ophthalmology Department, Benjamin Franklin University Hospital, Berlin, Germany; 

 5 German Heart Institute of Berlin, Berlin, Germany; 

 6National Eye Clinic for the Visually Impaired, Hellerup, Denmark 

 HUMAN MUTATION 20:153^161 (2002)

 




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