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/