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BioMed Research International
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2015
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Article
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Tab 1
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Review Article
The ABCC6 Transporter as a Paradigm for Networking from an Orphan Disease to Complex Disorders
Table 1
In silico
prediction tools used to study causality of ABCC6 missense variants.
Bioinformatics tool
Web address
Annotation of variants
Ensembl API
http://rest.ensembl.org/
Alamut Batch
http://www.interactive-biosoftware.com/alamut-batch/
Functional consequences of mutations
Alamut
http://www.interactive-biosoftware.com/software/alamut/overview
Polyphen 2
http://genetics.bwh.harvard.edu/pph2/
SIFTs
https://www.ebi.ac.uk/pdbe/docs/sifts/
Align-GVGD
http://agvgd.iarc.fr/agvgd_input.php
MutationTaster
http://www.mutationtaster.org/
SpliceCenter
http://projects.insilico.us/SpliceCenter/SpliceOverview.jsp
MutationAssessor
http://mutationassessor.org/v1
Structural consequences of mutations
PredictProtein
https://www.predictprotein.org/
MutDB
http://www.mutdb.org
Large sequencing datasets
1000 genomes browser
http://www.1000genomes.org/
Exome variant server
http://evs.gs.washington.edu/EVS/