Resource of Asian Primary Immunodeficiency Diseases

RAPID Original

ORAI1

SI.No	Mutation type	Mutation change	Mutation effects	Expt Name	PubMed
1	Substitutions	Genomic: g.464C>T CDS: c.271C>T AnimoAcid: p.Arg91Trp	Substitutions	Direct sequencing	Feske S et al., 2006
2	Insertion	Genomic: g.451_452insA CDS: c.258_259insA AnimoAcid: p.Ala88SerfsX25	Insertion	Direct sequencing	McCarl CA et al., 2009
3	Substitutions	Genomic: g.14491C>A CDS: c.308C>A AnimoAcid: p.Ala103Glu	Substitutions	Direct sequencing	McCarl CA et al., 2009
4	Substitutions	Genomic: g.14764T>C CDS: c.581T>C AnimoAcid: p.Leu194Pro	Substitutions	Direct sequencing	McCarl CA et al., 2009