RAPID: Resource of Primary Immunodeficiency Diseases

Last updated on May 20, 2013

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CD46

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22 unique mutation(s) annotated from 9 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.4976G>C	c.98-1G>C	-	p.Asp33GlyfsX3	Splice acceptor defects, Frameshift	PCR based assay, SSCP	Caprioli J et al., 2006	Click here
2	Substitution	g.4983G>A	c.104G>A	-	p.Cys35Tyr	Missense defects	PCR based assay, SSCP	Caprioli J et al., 2006	Click here
3	Substitution	g.5054C>T	c.175C>T	-	p.Arg59X	Nonsense defects	Direct sequencing	Fremeaux-Bacchi V et al., 2006	Click here
4	Substitution	g.5054C>T	c.175C>T	-	p.Arg59X	Nonsense defects	PCR based assay, SSCP	Caprioli J et al., 2006	Click here
5	Deletion	g.5077delA	c.198delA	-	p.Gly67AspfsX40	Frameshift	PCR based assay, SSCP	Caprioli J et al., 2006	Click here
6	Substitution	g.5166G>C	c.286+1G>C	r.[286_287ins286+1_286+4,223_286del64ins67; 286+1g>c]	-	Splice donor defects	Direct sequencing, PCR based assay	Couzi L et al., 2008	Click here
7	Substitution	g.5167T>G	c.286+2T>G	-	p.Lys49_Arg96del	Splice donor defects	Direct sequencing	Fremeaux-Bacchi V et al., 2006	Click here
8	Substitution	g.5501A>G	c.287-2A>G	r.[=,287_389del; 287a>g]	p.[=, Arg96IlefsX4]	Frameshift	Direct sequencing	Fremeaux-Bacchi V et al., 2006	Click here
9	Substitution	g.5501A>G	c.287-2A>G	r.287_389del	p.Arg96IlefsX4	Splice acceptor defects, Exon skipping, Frameshift	SSCP	Caprioli J et al., 2006	Click here
10	Substitution	g.5511T>C	c.295T>C	-	p.Cys99Arg	Missense defects	PCR based assay, SSCP	Caprioli J et al., 2006	Click here
11	Substitution	g.9229C>T	c.493C>T	-	p.Pro165Ser	Missense defects	Direct sequencing	Esparza-Gordillo J et al., 2006	Click here
12	Substitution	g.9271G>C	c.535G>C	-	p.Glu179Gln	Missense defects	Direct sequencing	Fremeaux-Bacchi V et al., 2006	Click here
13	Substitution	g.9289G>A	c.553G>A	-	p.Asp185Asn	Missense defects	Direct sequencing	Fremeaux-Bacchi V et al., 2006	Click here
14	Substitution	g.9301T>G	c.565T>G	-	p.Tyr189Asp	Missense defects	Direct sequencing	Fremeaux-Bacchi V et al., 2006	Click here
15	Substitution	g.9301T>G	c.565T>G	-	p.Tyr189Asp	Missense defects	Direct sequencing	Maga TK et al., 2010	Click here
16	Substitution	g.9322G>A	c.586G>A	-	p.Gly196Arg	Missense defects	Direct sequencing	Fremeaux-Bacchi V et al., 2006	Click here
17	Substitution	g.15020T>C	c.718T>C	-	p.Ser206Pro	Missense defects	Direct sequencing	Richards A et al., 2003	Click here
18	Substitution	g.15027T>G	c.725T>G	-	p.Phe242Cys	Missense defects	PCR based assay, SSCP	Caprioli J et al., 2006	Click here
19	Substitution	g.15027T>G	c.725T>G	-	p.Phe242Cys	Missense defects	Direct sequencing	Maga TK et al., 2010	Click here
20	Substitution	g.15046C>G	c.744C>G	-	p.Tyr248X	Nonsense defects	Direct sequencing	Fremeaux-Bacchi V et al., 2006	Click here
21	Deletion	g.15101_15102delAC	c.799_800delAC	-	p.Thr267AsnfsX4	Frameshift	SSCP	Caprioli J et al., 2006	Click here
22	Deletion	g.15101_15102delAC	c.799_800delAC	-	p.Thr267AsnfsX4	Frameshift	Direct sequencing, SSCP	Noris M et al., 2003	Click here
23	Deletion	g.15113_15118delGACAGT	c.811_816delGACAGT	-	p.Asp271_Ser272del	Amino acid deletion	Direct sequencing	Richards A et al., 2003	Click here
24	Deletion	g.15117_15131del15	c.815_829del15	-	p.[Ser272_Trp276del5, Asp277Asn]	Missense defects, Amino acid deletion	PCR based assay, SSCP	Caprioli J et al., 2006	Click here
25	Substitution	g.15134C>T	c.832C>T	-	p.Pro288Ser	Missense defects	PCR based assay, SSCP	Caprioli J et al., 2006	Click here
26	Substitution	g.15740A>G	c.902-2A>G	-	-	Splice acceptor defects	Direct sequencing	Fremeaux-Bacchi V et al., 2006	Click here
27	Substitution	g.33064C>T	c.1058C>T	-	p.Ala353Val	Missense defects	Direct sequencing	Davin JC et al., 2009 Bouts AH et al., 2010	Click here

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