Figure 2.

Intragenic Location of SON Variants and Key Protein Functional Domains

(A) All but one of the SON variants in the described individuals localize to exon 3 of SON (GenBank: NM_138927.2).

(B) Approximate location of amino acid changes in relation to SON’s key functional domains, which include a unique central highly repetitive region, an RS-rich domain, a G-patch domain, and a double-stranded RNA-binding motif (DSRM). Data were extracted from GenBank: NP_620305.2. This panel was adapted from Hickey et al.⁴