RAPID: Resource of Primary Immunodeficiency Diseases

Last updated on June 03, 2013

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STX11

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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.36184G>T	c.73G>T	-	p.Glu25X	Nonsense defects	Direct sequencing	Marsh RA et al., 2010	Click here
2	Substitution	g.36217G>C	c.106G>C	-	p.Glu36Gln	Missense defects	Direct sequencing	Marsh RA et al., 2010	Click here
3	Deletion	g.36221delC	c.110delC	-	p.Thr37ArgfsX26	Frameshift	Direct sequencing	Bryceson YT et al., 2007	Click here
4	Deletion	g.[36480_36481delAG; 36485_36487delCGC]	c.[369_370delAG; 374_376delCGC]	-	p.Val124fsX60	Frameshift	Direct sequencing	Albayrak M et al., 2009	Click here
5	Deletion	g.36692_36695delTGGC	c.581_584delTGGC	r.581_584deluggc	p.Leu194ProfsX2	Frameshift	Direct sequencing, PCR based assay	Danielian S et al., 2010	Click here
6	Substitution	g.36727G>A	c.616G>A	-	p.Glu206Lys	Missense defects	Direct sequencing	Marsh RA et al., 2010	Click here
7	Substitution	g.36913C>T	c.802C>T	-	p.Gln268X	Nonsense defects	Direct sequencing	zur Stadt U et al., 2005	Click here
8	Substitution	g.36913C>T	c.802C>T	-	p.Gln268X	Nonsense defects	Direct sequencing	Rudd E et al., 2006	Click here
9	Substitution	g.36913C>T	c.802C>T	-	p.Gln268X	Nonsense defects	Direct sequencing	Bryceson YT et al., 2007	Click here

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