Fig. 5From: Two novel ECHS1 variants, affecting splicing and reducing enzyme activity, is associated with mitochondrial encephalopathy in infant: a case report3D model of the human ECHS1. a Wide type, red-confidently predicted active domain, blue-deleted amino acids, green-glutamine (Q); b Mutated type, the number 126–138 amino acids deleted, yellow-glutamic acid (E)Back to article page