Combination of Synonymous and Missense Mutations in <i>JAK3</i> Gene Contributes to Severe Combined Immunodeficiency in One Child

<div>Pathogenicity of the missense mutations c.1048C&gt;T (p.R350W) and the synonymous mutation c.1914G&gt;T (p.L638=) of JAK3. (a) In silico analysis of p.Arg350Trp in JAK3 shows that the site p.Arg350 is highly conserved across species. (b) 3D structure of wild type and mutant type of p.Arg350Trp in JAK3, and the variant of p.Arg350Trp changes the side strand structure.</div>

Human Mutation

fig4

Figure 4

Figure 4: Combination of Synonymous and Missense Mutations in <i>JAK3</i> Gene Contributes to Severe Combined Immunodeficiency in One Child 

Human Mutation

Combination of Synonymous and Missense Mutations in JAK3 Gene Contributes to Severe Combined Immunodeficiency in One Child

Figure 4