Resource of Asian Primary Immunodeficiency Diseases

RAPID Original

IGLL1

SI.No	Mutation type	Mutation change	Mutation effects	Expt Name	PubMed
1	Substitutions	Genomic: g.182C>T CDS: c.64C>T AnimoAcid: p.Gln22X	Substitutions	Direct sequencing, SSCP	Minegishi Y et al., 1998
2	Substitutions	Genomic: g.6826C>T CDS: c.425C>T AnimoAcid: p.Pro142Leu	Substitutions	Direct sequencing, SSCP	Minegishi Y et al., 1998