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Reported ECHS1 missense mutations. Protein scheme showing the amino acid substitutions associated to ECHS1 deficiency based on the variants annotated in Human Gene Mutation Database [14]. Only missense variants are indicated. Splice site variants, frameshift and nonsense mutations are not represented. CS, enoyl-Coa hydratase conserved site.⁎ Annotated in HGMD as a disease-associated polymorphism.⁎⁎ Variant reported in the present manuscript.
