RAPID: Resource of Primary Immunodeficiency Diseases

Last updated on June 03, 2013

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RAPID updates:

Sl.No	Gene Symbol	Mutation Type	Genomic level change	CDS level change	RNA level change	Protein level change	Mutation effects	Experiment Name	PubMed
1	SPINK5	Substitutions	g.27258G>A	c.666+1G>A	-	-	Splice donor defects	Direct sequencing	Renner ED et al., 2009
2	SPINK5	Deletion	g.22528_22529delAT	c.377_378delAT	-	p.Tyr126X	Nonsense defects	Direct sequencing	Renner ED et al., 2009
3	SPINK5	Substitutions	g.8250G>A	c.282+1G>A	-	-	Splice donor defects	Direct sequencing	Renner ED et al., 2009
4	SPINK5	Deletion	g.56350delA	c.2468delA	-	p.Lys823ArgfsX100	Frameshift	Direct sequencing	Renner ED et al., 2009
5	SPINK5	Substitutions	g.52481G>T	c.2098G>T	-	p.Gly700X	Nonsense defects	Direct sequencing	Renner ED et al., 2009
6	SPINK5	Insertion	g.37858_37859insT	c.1351_1352insT	-	p.Cys451LysfsX5	Frameshift	Direct sequencing	Renner ED et al., 2009
7	SPINK5	Substitutions	g.22562G>A	c.410+1G>A	-	-	Splice donor defects	Direct sequencing	Renner ED et al., 2009
8	SPINK5	Substitutions	g.40969G>A	c.1431-12G>A	-	-	Splice acceptor defects	Direct sequencing	Renner ED et al., 2009
9	SPINK5	Deletion	g.56355_56356delGA	c.2473_2474delGA	-	p.Glu825GlyfsX1	Frameshift	Direct sequencing	Renner ED et al., 2009
10	SPINK5	Deletion	g.22505_22508delTTGT	c.354_357delTTGT	-	p.Cys119AlafsX25	Frameshift	Direct sequencing	Renner ED et al., 2009

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