ANGDelMut – a web-based tool for predicting and analyzing functional loss mechanisms of amyotrophic lateral sclerosis-associated angiogenin mutations

نویسندگان

  • Aditya K Padhi
  • Suhas V Vasaikar
  • Bhyravabhotla Jayaram
  • James Gomes
  • Emanuele Buratti
  • Rafael Najmanovich
  • James Gomes
  • Rafael Najmanovich
  • Ammar Al-Chalabi
چکیده

ANGDelMut is a web-based tool for predicting the functional consequences of missense mutations in the angiogenin (ANG) protein, which is associated with amyotrophic lateral sclerosis (ALS). Missense mutations in ANG result in loss of either ribonucleolytic activity or nuclear translocation activity or both of these functions, and in turn cause ALS. However, there are no web-based tools available to predict whether a newly identified ANG mutation will be ALS causative. More importantly, no web-implemented method is currently available to elucidate the mechanisms of loss-of-function(s) of ANG mutants. In light of this observation, we developed the ANGDelMut web-based tool, which predicts whether an ANG mutation is deleterious or benign. The user selects certain attributes from the input panel, which serves as a query to infer whether a mutant will exhibit loss of ribonucleolytic activity or nuclear translocation activity or whether the overall stability will be affected. The output states whether the mutation is deleterious or benign, and if it is deleterious, gives the mechanism(s) of loss-of-function. This web-based tool, freely available at http://bioschool.iitd.ernet.in/DelMut/, is the first of its kind to provide a platform for researchers and clinicians, to infer the functional consequences of ANG mutations and their association with ALS ahead of experimental findings.

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ANGDelMut – a web-based tool for predicting and analyzing functional loss mechanisms of deleterious angiogenin mutations causing amyotrophic lateral sclerosis

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عنوان ژورنال:

دوره 2  شماره 

صفحات  -

تاریخ انتشار 2013