Table 1.

Online informatics tools and useful databases

ConSeq	Sequence conservation	http://conseq.tau.ac.il/
PolyPhen	Deleterious effects	http://coot.embl.de/PolyPhen/
SIFT	Deleterious effects	http://sift.jcvi.org/
OMIM	Database of human genetic disorders	http://www.ncbi.nlm.nih.gov/omim/
dbSNP	Identified SNPs	http://www.ncbi.nlm.nih.gov/sites/entrez?db=snp
GeneTests	Laboratories performing genetic testing	http://www.ncbi.nlm.nih.gov/sites/GeneTests/
IL2RGbase	Published mutations in IL2RG	http://research.nhgri.nih.gov/scid/
ALPSbase	Published mutations in Fas	http://research.nhgri.nih.gov/alps/
STAT3base	Published mutations in STAT3	http://www3.niaid.nih.gov/labs/aboutlabs/lcid/stat3base/default.htm
IDbases	Databases for immunodeficiency-causing mutations	http://bioinf.uta.fi/base_root/
RESCUE-ESE	Exonic splicing enhancer predictor	http://genes.mit.edu/burgelab/rescue-ese/
ESE-Finder	Exonic splicing enhancer predictor	http://rulai.cshl.edu/tools/ESE2/index.html

dbSNP, single nucleotide polymorphism database; ESE, exonic splicing enhancer; IL2RG, IL-2 receptor, gamma; OMIM, Online Mendelian Inheritance in Man; SNP, single nucleotide polymorphism; STAT3, signal transducer and activator of transcription 3.