Link to the Reference Paper. The accession number of this mRNA is
U49897
.
The following files contain the results of information analyses of mutations confirmed or predicted to result in mRNA splicing mutations in PAH.
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
Phenylalanine Hydroxylase Locus Knowledgebase