RAPID: Resource of Primary Immunodeficiency Diseases

Last updated on May 15, 2013

CASP10

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4 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	Substitution	g.25217C>T	c.853C>T	-	p.Leu285Phe	Missense defects	SSCP, Direct sequencing	Wang J et al., 1999	Click here
2	Substitution	g.26466A>T	c.1216A>T	-	p.Ile406Leu	Missense defects	Direct sequencing, PCR based assay	Zhu S et al., 2006	Click here
3	Substitution	g.26478G>A	c.1228G>A	-	p.Val410Ile	Missense defects	SSCP, Direct sequencing	Wang J et al., 1999	Click here
4	Substitution	g.26587A>G	c.1337A>G	-	p.Tyr446Cys	Missense defects	Direct sequencing, PCR based assay	Zhu S et al., 2006	Click here

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