Link to the Reference Paper. The accession number of this mRNA is AF000571 .
The following files contain the results of information analyses of mutations confirmed or predicted to result in mRNA splicing mutations in KCNQ1.
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

 References:

 

 METHODS

 DHPLC Analysis of Potassium Ion Channel Genes in Congenital Long QT Syndrome

 Roselie Jongbloed,1,2* Carlo Marcelis,1 Crool Velter,1 Pieter Doevendans,2 Joep Geraedts,1

 and Hubert Smeets1,2

 HUMAN MUTATION 20:382^391 (2002)

 

 

 

 

 

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