Resource of Asian Primary Immunodeficiency Diseases

RAPID Original

LCK

SI.No	Mutation type	Mutation change	Mutation effects	Expt Name	PubMed
1	Deletion	Genomic: r.482_631del CDS: AnimoAcid:	Deletion	PCR based assay	Goldman FD et al., 1998
2	Deletion	Genomic: r.482_631del CDS: AnimoAcid:	Deletion	PCR based assay, SSCP	Sawabe T et al., 2001
3	Substitutions	Genomic: g.28490C>T CDS: c.1022C>T AnimoAcid: p.Leu341Pro	Substitutions	PCR based assay	Hauck F et al., 2012