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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.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172