RAPID: Resource of Primary Immunodeficiency Diseases

Last updated on May 20, 2013

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17 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.878G>A	c.217G>A	-	p.Asp73Asn	Missense defects	Direct sequencing	Haaxma CA et al., 2010	Click here
2	Insertion	g.884_885insG	c.223_224insG	-	-	NA	Direct sequencing	Rice G et al., 2007	Click here
3	Duplications	g.1038_1039dupTG	c.377_378dupTG	-	-	NA	Direct sequencing	Rice G et al., 2007	Click here
4	Substitution	g.1167G>A	c.506G>A	-	p.Arg169His	Missense defects	Direct sequencing	Rice G et al., 2007	Click here
5	Substitution	g.1191T>C	c.530T>C	-	p.Val177Ala	Missense defects	Direct sequencing	Rice G et al., 2007	Click here
6	Duplications	g.1192_1193dupGGC	c.531_532dupGGC	-	-	NA	Direct sequencing	Rice G et al., 2007	Click here
7	Duplications	g.1219_1234dup	c.558_573dup	-	-	NA	Direct sequencing	Rice G et al., 2007	Click here
8	Deletion	g.1223delC	c.562delC	-	-	NA	Direct sequencing	Rice G et al., 2007	Click here
9	Substitution	g.1316C>T	c.655C>T	-	p.Arg219X	Nonsense defects	Direct sequencing	Rice G et al., 2007	Click here
10	Deletion	g.1326delG	c.665delG	-	-	NA	Direct sequencing	Rice G et al., 2007	Click here
11	Substitution	g.1424G>T	c.763G>T	-	p.Asp255Asn	Missense defects	Direct sequencing	Rice G et al., 2007	Click here
12	Insertion	g.1426_1427insGAT	c.765_766insGAT	-	-	NA	Direct sequencing	Rice G et al., 2007	Click here
13	Substitution	g.1428T>A	c.767T>A	-	p.Val256Asp	Missense defects	Direct sequencing	Rice G et al., 2007	Click here
14	Duplications	g.1435_1488dup	c.774_827dup	-	-	NA	Direct sequencing	Rice G et al., 2007	Click here
15	Duplications	g.1451_1454dupCAGT	c.790_793dupCAGT	-	-	NA	Direct sequencing	Rice G et al., 2007	Click here
16	Deletion	g.1694_1711del	c.1033_1050del	-	-	NA	Direct sequencing	Rice G et al., 2007	Click here
17	Substitution	g.1733A>C	c.1072A>C	-	p.Thr358Pro	Missense defects	Direct sequencing	Rice G et al., 2007	Click here

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