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Table 1 Mutations of CPT2- or VLCAD-deficient patients

From: Stilbenes and resveratrol metabolites improve mitochondrial fatty acid oxidation defects in human fibroblasts

Patients Mutated gene Nucleotides change Amino acid change
1 CPT2 c.338C > T c.371G > A S113L R124Q
2 CPT2 c.338C > T c.112-113InsGC S113L S38Fs
3 VLCAD c.1144A > C c.1339G > A K382Q G447R
4 VLCAD c.848 T > C c.848 T > C V283A V283A
5 VLCAD c.664G > A c.1512G > T G222R E504D
  1. The numbering of nucleotides starts at the first adenine of the translation initiation codon.
  2. The numbering of amino acids starts at the first methionine encoded by the translation initiation codon.