Resource of Asian Primary Immunodeficiency Diseases

RAPID Original

LPIN2

SI.No	Mutation type	Mutation change	Mutation effects	Expt Name	PubMed
1	Substitutions	Genomic: g.89775C>T CDS: c.2201C>T AnimoAcid: p.Ser734Leu	Substitutions	Direct sequencing	Ferguson PJ et al., 2005
2	Deletion	Genomic: g.60843_60844delAT CDS: c.540_541delAT AnimoAcid: p.Thr180fs	Deletion	Direct sequencing	Ferguson PJ et al., 2005
3	Substitutions	Genomic: g.89902G>C CDS: c.2327+1G>C AnimoAcid:	Substitutions	SSCP, Direct sequencing	Al-Mosawi ZS et al., 2007