Table 2.

List of known human carnitine palmitoyltransferase-II mutated sites[33,34]

Exon	Amino acid substitution	Others
1	Pro41Leu; Pro50His	36-38 insGC; 6_43dupGGGCCC; 113_114dupGC
2	Pro55Arg; Ala67Gly	182_203del 22; 153-1G>A (Intron 2)1
3	Cys84Arg; Ala101Val; Ser113Leu	256_257delAG; 232+1G>A (Intron 3)1
4	Tyr120Cys; Leu121Gln; Arg124Gln; Arg124Ter; Asn146Thr; Arg151Gln; Arg151Trp; Arg161Trp; Lys164Ter; Arg167Gln; Pro173Ser; Glu174Lys; Tyr210Asp; Asp213Gly; Met214Thr; Gln216Arg; Pro227Leu; Arg231Trp; Arg247Trp; Lys274Met; Arg296Gln; Arg296Leu; Arg296Ter; Gly310Gly; Cys326Tyr; Asp328Gly; Met342Thr; Phe352Cys; Val368Ile; His369Gln; Arg382Lys; Phe383Tyr; Gln413Gln; Phe448Leu; Arg450Ter; Gly451Glu; Glu454Ter; Lys457Ter; Tyr479Phe; Tyr479Cys; Gly480Arg; Glu487Lys; Gly497Ser; Ile502Thr; Arg503Cys; Pro504Leu; Phe516Ser; Glu545Ala	1569_1570delCA; 1444_1447delACAG; 1634_1636delAAG; 1646_49del; 1273_1274delAC; 1238_1239delAG; 1543_1546delGCCT; 907_918ins11; 533insT; 534-558del25; 1645+5G>A (Intron 5)1
5	Arg560Gln; Leu575Pro; Asp576Gly; Ser588Cys; Ser590Asn; Gly600Arg; Pro604Ser; Val605Leu; Asp608His; Tyr628Ser; Arg631Cys; Leu644Ser	1816_1817delGT; 1923_1935del; 340+1G>A (Intron 4)1; 340+5G>A (Intron 4)1

¹Intron.

Mutations are listed on Human Gene Mutation Database from Stenson et al[33] and Yao et al[30].