RAPID: Resource of Primary Immunodeficiency Diseases

Last updated on May 20, 2013

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FASLG

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4 unique mutation(s) annotated from 3 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.413A>G	c.256A>G	-	p.Met86Val	Missense defects	Direct sequencing	Bi LL et al., 2007	Click here
2	Substitution	g.6592A>G	c.466A>G	-	p.Arg156Gly	Missense defects	Direct sequencing	Bi LL et al., 2007	Click here
3	Deletion	g.6598_6681del84	c.472_555del84	-	p.Met158_Glu185del	Amino acid deletion	SSCP	Wu J et al., 1996	Click here
4	Substitution	g.6866C>A	c.740C>A	-	p.Ala247Glu	Missense defects	Direct sequencing	Del-Rey M et al., 2006	Click here

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