RAPID: Resource of Primary Immunodeficiency Diseases

Last updated on May 20, 2013

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SP110

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6 unique mutation(s) annotated from 4 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.8842delC	c.40delC	-	p.Gln14fs	Frameshift	Direct sequencing	Roscioli T et al., 2006	Click here
2	Deletion-Insertion	g.8880_8881delinsAT	c.78_79delinsAT	-	p.Ile27Leu	Missense defects	Direct sequencing	Cliffe ST et al., 2012	Click here
3	Deletion-Insertion	g.8880_8881delinsAT	c.78_79delinsAT	-	p.Ile27Leu	Missense defects	Direct sequencing	Wang T et al., 2012	Click here
4	Duplications	g.12705_12711dupGGTGCTT	c.319_325dupGGTGCTT	-	p.Ser109Trpfs	Frameshift	Direct sequencing	Cliffe ST et al., 2012	Click here
5	Deletion	g.12759delA	c.373delA	-	p.Thr125Leufs	Frameshift	Direct sequencing	Cliffe ST et al., 2012	Click here
6	Deletion	g.13358delC	c.642delC	-	p.Ser215AlafsX14	Frameshift	Direct sequencing	Roscioli T et al., 2006	Click here
7	Deletion	g.13358delC	c.642delC	-	p.Ser215AlafsX14	Frameshift	Direct sequencing	Cliffe ST et al., 2007	Click here
8	Deletion	g.13358delC	c.642delC	-	p.Ser215AlafsX14	Frameshift	Direct sequencing	Cliffe ST et al., 2012	Click here
9	Duplications	g.13384dupG	c.667+1dupG	-	-	Splice donor defects	Direct sequencing	Cliffe ST et al., 2012	Click here

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