I want to confirm a mutation with predictor tools for splice site. Which tool do you advice me? How can I perform it?

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Sabine Strehl

Read this paper http://www.nature.com/gim/journal/v16/n7/full/gim2013176a.html

and try some online tools e.g. http://www.umd.be/HSF3/

Ramanath Majumdar

You can try ALAMUT-visual web browser (alamut-na.interactive-biosoftware.com). Lots of labs use this browser to assess splice site finder. See an example in the attached doc for TPP1 gene c.509-1G>A variant. However, the results need to be confirmed by some other means. Finally, use of this web browser is not free.

Bugrahan Duz

Ramanath Majumdar, do you have any recommendation for a free tool?

Thanks to everybody