A Novel Missense Variant of TP63 Heterozygously Present in Split-Hand/Foot Malformation

Figure 3

(a) The novel variant (p.Met316Ile) is located in the highly conserved site among species. The red letter represents the mutated amino acid; (b) the partial structure of TP63 protein constructed by Swiss-model with red circles emphasizing the changed conformation. WT = wild type. M = TP63 variant.

(a)

(b)