Resource of Asian Primary Immunodeficiency Diseases

RAPID Original

MYD88

SI.No	Mutation type	Mutation change	Mutation effects	Expt Name	PubMed
1	Deletion	Genomic: g.377_379delGAG CDS: c.193_195delGAG AnimoAcid: p.Glu65del	Deletion	Direct sequencing	von Bernuth H et al., 2008
2	Substitutions	Genomic: g.501T>C CDS: c.317T>C AnimoAcid: p.Leu106Pro	Substitutions	Direct sequencing	von Bernuth H et al., 2008
3	Substitutions	Genomic: g.2033C>T CDS: c.625C>T AnimoAcid: p.Arg209Cys	Substitutions	Direct sequencing	von Bernuth H et al., 2008
4	Substitutions	Genomic: g.380G>T CDS: c.196G>T AnimoAcid: p.Glu66X	Substitutions	NA	Conway DH et al., 2010