RAPID: Resource of Primary Immunodeficiency Diseases

Last updated on May 20, 2013

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RAPID updates:

Sl.No	Gene Symbol	Mutation Type	Genomic level change	CDS level change	RNA level change	Protein level change	Mutation effects	Experiment Name	PubMed
1	IL12RB1	Substitutions	g.14608C>T	c.853C>T	-	p.Gln285X	Nonsense defects	Direct sequencing	Xie N et al., 2008
2	LYST	Deletion	g.150172delA	c.9590delA	-	p.Tyr3197LeufsX90	Frameshift	Direct sequencing	Scherber E et al., 2009
3	LYST	Deletion	g.91893delC	c.5519delC	-	p.Ser1840fs	Frameshift	Direct sequencing	Scherber E et al., 2009
4	LYST	Deletion	g.84975delA	c.5004delA	-	p.Gly1668fs	Frameshift	Direct sequencing	Scherber E et al., 2009
5	LYST	Insertion	g.56678insT	c.575insT	-	p.Leu192PhefsX6	Frameshift	Direct sequencing	Scherber E et al., 2009
6	RAG2	Substitutions	g.4677T>G	c.583T>G	-	p.Tyr195Asp	Missense defects	Direct sequencing	Sadeghi-Shabestari M et al., 2009
7	RAG2	Substitutions	g.4675C>A	c.581C>A	-	p.Ser194X	Nonsense defects	Direct sequencing	Sadeghi-Shabestari M et al., 2009
8	SP110	Deletion	g.13358delC	c.642delC	-	p.Ser215AlafsX14	Frameshift	Direct sequencing	Cliffe ST et al., 2007

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