Figure 4.

Mutations in SMCHD1. All mutations in the gene SMCHD1 known to date are compiled. Exons are indicated with boxes (5′ splice site I +0, >+1, <+2. 3' splice site I +0, >−1, <−2), the SMCHD1 conserved protein domains are marked with arrows. The listed mutations were published by ¹Lemmers et al,^{23 2}Mitsuhashi et al,^{47 3}Sacconi et al⁴² and ⁴the present study. Mutations are spread all over the gene, not sparing any of the functional domains of the protein.