RAPID: Resource of Primary Immunodeficiency Diseases

Last updated on May 20, 2013

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7 unique mutation(s) annotated from 6 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.13440C>T	c.643C>T	-	p.Arg215Trp	Missense defects	Direct sequencing	Seemanova E et al., 2006	Click here
2	Deletion	g.13454_13458delACAAA	c.657_661delACAAA	-	p.Lys219fs	Frameshift	Direct sequencing, PCR based assay	Matsuura S et al., 1998	Click here
3	Deletion	g.13454_13458delACAAA	c.657_661delACAAA	-	p.Lys219fs	Frameshift	Direct sequencing	Seemanova E et al., 2006	Click here
4	Deletion	g.13454_13458delACAAA	c.657_661delACAAA	-	p.Lys219fs	Frameshift	PCR based assay	Tekin M et al., 2002	Click here
5	Deletion	g.13454_13458delACAAA	c.657_661delACAAA	-	p.Lys219fs	Frameshift	SSCP, Direct sequencing	Kleier S et al., 2000	Click here
6	Deletion	g.13454_13458delACAAA	c.657_661delACAAA	-	p.Lys219fs	Frameshift	Direct sequencing	Di Masi A et al., 2006	Click here
7	Deletion	g.13454_13458delACAAA	c.657_661delACAAA	r.657_661delacaaa	p.Lys219fs	Frameshift	Direct sequencing, PCR based assay, SSCP	Varon R et al., 1998	Click here
8	Deletion	g.13495_13498delAACA	c.698_701delAACA	r.698_701delaaca	p.Lys233Serfs	Frameshift	Direct sequencing, PCR based assay, SSCP	Varon R et al., 1998	Click here
9	Duplications	g.14154_14155dupGG	c.742_743dupGG	-	p.Gly247fs	Frameshift	Direct sequencing, PCR based assay	Di Masi A et al., 2006	Click here
10	Deletion	g.14247_14250delCAGA	c.835_838delCAGA	-	p.Gln279fs	Frameshift	Direct sequencing	Di Masi A et al., 2006	Click here
11	Deletion	g.14247_14250delCAGA	c.835_838delCAGA	r.835_838delcaga	p.Gln279ProfsX1	Frameshift	Direct sequencing, PCR based assay, SSCP	Varon R et al., 1998	Click here
12	Duplications	g.14254dupT	c.842dupT	r.842dupu	p.Leu281fs	Frameshift	Direct sequencing, PCR based assay, SSCP	Varon R et al., 1998	Click here
13	Deletion	g.20168_20192del	c.900_924del	-	p.Gln300fs	Frameshift	Direct sequencing	Di Masi A et al., 2006	Click here

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