RAPID: Resource of Primary Immunodeficiency Diseases

Last updated on May 20, 2013

PhenomeR

SciNetS

LPIN2

View ALL

3 unique mutation(s) annotated from 2 PubMed(s)

Sl.No	Mutation type	Genomic level change	CDS level change	RNA level change	Protein level change	Mutation effects	Expt. name	PubMed	Mutation viewer
1	Deletion	g.60843_60844delAT	c.540_541delAT	-	p.Thr180fs	Frameshift	Direct sequencing	Ferguson PJ et al., 2005	Click here
2	Substitution	g.89775C>T	c.2201C>T	-	p.Ser734Leu	Missense defects	Direct sequencing	Ferguson PJ et al., 2005	Click here
3	Substitution	g.89902G>C	c.2327+1G>C	-	-	Splice donor defects	SSCP, Direct sequencing	Al-Mosawi ZS et al., 2007	Click here

  Unique visitors: 21266
  (since May 2009)
  Users online: 1

This is a joint Project between RIKEN, Japan and Institute of Bioinformatics, India.

Comments/Help Disclaimer