Cargando…

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

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Padhi, Aditya K, Vasaikar, Suhas V, Jayaram, Bhyravabhotla, Gomes, James
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000Research 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3901456/
https://www.ncbi.nlm.nih.gov/pubmed/24555108
http://dx.doi.org/10.12688/f1000research.2-227.v3
_version_ 1782300851713343488
author Padhi, Aditya K
Vasaikar, Suhas V
Jayaram, Bhyravabhotla
Gomes, James
author_facet Padhi, Aditya K
Vasaikar, Suhas V
Jayaram, Bhyravabhotla
Gomes, James
author_sort Padhi, Aditya K
collection PubMed
description 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, no web-based tools are available to predict whether a newly identified ANG mutation will possibly lead to ALS. More importantly, no web-implemented method is currently available to predict 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 possible 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 correlate their possible association with ALS ahead of experimental findings.
format Online
Article
Text
id pubmed-3901456
institution National Center for Biotechnology Information
language English
publishDate 2014
publisher F1000Research
record_format MEDLINE/PubMed
spelling pubmed-39014562014-01-29 ANGDelMut – a web-based tool for predicting and analyzing functional loss mechanisms of amyotrophic lateral sclerosis-associated angiogenin mutations Padhi, Aditya K Vasaikar, Suhas V Jayaram, Bhyravabhotla Gomes, James F1000Res Web Tool 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, no web-based tools are available to predict whether a newly identified ANG mutation will possibly lead to ALS. More importantly, no web-implemented method is currently available to predict 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 possible 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 correlate their possible association with ALS ahead of experimental findings. F1000Research 2014-02-10 /pmc/articles/PMC3901456/ /pubmed/24555108 http://dx.doi.org/10.12688/f1000research.2-227.v3 Text en Copyright: © 2014 Padhi AK et al. http://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/publicdomain/zero/1.0/ Data associated with the article are available under the terms of the Creative Commons Zero "No rights reserved" data waiver (CC0 1.0 Public domain dedication).
spellingShingle Web Tool
Padhi, Aditya K
Vasaikar, Suhas V
Jayaram, Bhyravabhotla
Gomes, James
ANGDelMut – a web-based tool for predicting and analyzing functional loss mechanisms of amyotrophic lateral sclerosis-associated angiogenin mutations
title ANGDelMut – a web-based tool for predicting and analyzing functional loss mechanisms of amyotrophic lateral sclerosis-associated angiogenin mutations
title_full ANGDelMut – a web-based tool for predicting and analyzing functional loss mechanisms of amyotrophic lateral sclerosis-associated angiogenin mutations
title_fullStr ANGDelMut – a web-based tool for predicting and analyzing functional loss mechanisms of amyotrophic lateral sclerosis-associated angiogenin mutations
title_full_unstemmed ANGDelMut – a web-based tool for predicting and analyzing functional loss mechanisms of amyotrophic lateral sclerosis-associated angiogenin mutations
title_short ANGDelMut – a web-based tool for predicting and analyzing functional loss mechanisms of amyotrophic lateral sclerosis-associated angiogenin mutations
title_sort angdelmut – a web-based tool for predicting and analyzing functional loss mechanisms of amyotrophic lateral sclerosis-associated angiogenin mutations
topic Web Tool
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3901456/
https://www.ncbi.nlm.nih.gov/pubmed/24555108
http://dx.doi.org/10.12688/f1000research.2-227.v3
work_keys_str_mv AT padhiadityak angdelmutawebbasedtoolforpredictingandanalyzingfunctionallossmechanismsofamyotrophiclateralsclerosisassociatedangiogeninmutations
AT vasaikarsuhasv angdelmutawebbasedtoolforpredictingandanalyzingfunctionallossmechanismsofamyotrophiclateralsclerosisassociatedangiogeninmutations
AT jayarambhyravabhotla angdelmutawebbasedtoolforpredictingandanalyzingfunctionallossmechanismsofamyotrophiclateralsclerosisassociatedangiogeninmutations
AT gomesjames angdelmutawebbasedtoolforpredictingandanalyzingfunctionallossmechanismsofamyotrophiclateralsclerosisassociatedangiogeninmutations