LOVD Scripts

Reading Frame Checker

The Reading Frame Checker allows you to to quickly generate a prediction of the effect of whole-exon deletions and duplications on the RNA translation. Amongst others, the script will check if the given deletion or duplication is in-frame or out-of-frame. It will also generate the HGVS name of the given mutation.

The Reading Frame Checker is only available for your gene database if you have once run the Reference Sequence Parser, because the Checker needs to know exon and intron information from your gene that the Reference Sequence Parser takes out of the GenBank file. Once available, it is also linked to from the gene homepage, in the "Graphical displays and utilities" table.

Information This feature was added in LOVD 2.0-22, released 2009-10-05.

« GenBank File Uploader Reference Sequence Parser »

Last modified 2014/08/25 14:48:31 CEST

When using or discussing LOVD please refer to:
Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, den Dunnen JT (2011). LOVD v.2.0: the next generation in gene variant databases. Hum Mutat. 2011 May;32(5):557-63.

LOVD has received funding from the European Community's Seventh Framework Programme
(FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project.
Leiden University Medical Center, Netherlands
Ing. Ivo F.A.C. Fokkema, Dr. Johan T. den Dunnen