CPT2

Introduction

The CPT2 gene, carnitine palmitoyltransferase 2, is located on chromosome 1p32.3 and has 5 exons spanning ~20kb (1). It encodes a 685 amino acid nuclear protein, carnitine palmitoyltransferase II or CPT II, which is transported to the mitochondrial inner membrane (2). Together with carnitine palmitoyltransferase I, carnitine palmitoyltransferase II oxidizes long-chain fatty acids in the mitochondria (3). The protein is involved in the intramitochondrial synthesis of acylcarnitines from accumulated acyl-CoA metabolites (4,5) and their reconversion back into the respective acyl-CoA esters that can then undergo beta-oxidation, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion. The enzyme is active with medium (C8-C12) and long-chain (C14-C18) acyl-CoA esters (5).

The protein is expressed in liver, colon and other tissues (6).

More than 160 disease-causing variants in the CPT2 gene have been identified in CPT Ⅱ patients and are represented in this database. The variants occur across the entire length of the gene and include frameshift, splice site, copy-number, nonsense and missense variants (7).

Variant List

To see more information, click on the Variant in the table. Hover on the Variant in the table to see its location on the gene . For more information on table headers, HGVS nomenclature, and ACMG classification please use the following links here.

Gene Structure

Variant ID	Variant	Amino Acid Change	Gene Symbol	Variant Type	Effect Type	Display ACMG Call	Disease Subtype	Times Observed Range	Phenotype	PMID	Location

CPT2_0004	c.?	p.His369Gln	CPT2			Likely Pathogenic	CPT2	<3	Muscle switching, Myalgia, Myoglobinuria	23911907
CPT2_0001	c.?	p.Tyr290*	CPT2			Pathogenic	CPT2	<3	Abnormal renal morph....	14605500
CPT2_0007	c.?	p.Phe448Leu	CPT2			Likely Pathogenic	CPT2	3-5	Abnormal liver morph....	11477613
CPT2_0008	c.?	p.Gly600Arg	CPT2			Pathogenic	CPT2	<3	Arrhythmia, Hepatic failure	14605500
CPT2_0010	c.?	p.Val605Leu	CPT2			Pathogenic	CPT2	<3		31348995
CPT2_0011	c.?	p.Leu72Phe	CPT2			Likely Pathogenic	CPT2	<3		14605500
CPT2_0012	c.28_29insAGCAAG	p.Trp10*	CPT2	Insertion	Nonsense	Pathogenic	CPT2	<3	Abnormal renal morph....	30293990	Exon 1
CPT2_0013	c.38del	p.Gly13Alafs*60	CPT2	Deletion	Frameshift	Pathogenic	CPT2	<3		16996287	Exon 1
CPT2_0014	c.36_43dup	p.Ala15Glyfs*61	CPT2	Duplication	Frameshift	Pathogenic	CPT2	<3		16996287	Exon 1
CPT2_0015	c.62C>A	p.Pro21His	CPT2	SNV	Missense	Likely Pathogenic	CPT2	<3	Gastrointestinal-oth....	22494076	Exon 1
CPT2_0016	c.98del	p.Gln33Argfs*40	CPT2	Deletion	Frameshift	Pathogenic	CPT2	<3	Muscle weakness, Myoglobinuria	21913903, 30957255	Exon 1
CPT2_0017	c.99G>C	p.Gln33His	CPT2	SNV	Missense	Likely Pathogenic	CPT2	<3	Gastrointestinal-oth....	22494076	Exon 1
CPT2_0018	c.110_111dup	p.Ser38Alafs*36	CPT2	Duplication	Frameshift	Pathogenic	CPT2	6-10	Abnormal liver morph....	10862092, 12410208, 12673791, 12840153, 16996287, 20505667, 21378393, 24898617, 30007356	Exon 1
CPT2_0019	c.122C>T	p.Pro41Leu	CPT2	SNV	Missense	Uncertain Significance	CPT2	<3	Rhabdomyolysis	22899091	Exon 1
CPT2_0020	c.122_130del	p.Pro41_Met43del	CPT2	Deletion	Deletion	Uncertain Significance	CPT2	<3	Encephalopathy, Seizure	35281663	Exon 1
CPT2_0021	c.131_133delinsCCC	p.His44_Tyr45delinsProHis	CPT2	Delins	Missense	Uncertain Significance	CPT2	<3			Exon 1
CPT2_0022	c.136C>T	p.Gln46*	CPT2	SNV	Nonsense	Pathogenic	CPT2	<3	Abnormality of metab....	31638495	Exon 1
CPT2_0023	c.149C>A	p.Pro50His	CPT2	SNV	Missense	Pathogenic	CPT2	30+	Decreased feeding, D....	10398218, 10862092, 12410208, 12673791, 12707442, 15622536, 16996287, 17936304, 20505667, 24602495, 29478820, 30455135, 30897730, 30957255, 31554424, 33123633, 34449523, 7711730, 9048718	Exon 1
CPT2_0024	c.151A>G	p.Arg51Gly	CPT2	SNV	Missense	Uncertain Significance	CPT2	<3	Abnormality of metab....	22841441, 29552494	Exon 1
CPT2_0025	c.152+5G>A	Intronic	CPT2	SNV	Splice region	Pathogenic	CPT2	3-5			Intron 1
CPT2_0026	c.161T>G	p.Ile54Ser	CPT2	SNV	Missense	Uncertain Significance	CPT2	<3	Fever, Reduced feeding, Vomiting	35859960	Exon 2
CPT2_0027	c.164C>G	p.Pro55Arg	CPT2	SNV	Missense	Likely Pathogenic	CPT2	<3	Abnormal renal morph....	18550408	Exon 2
CPT2_0028	c.182_203del	p.Ile61Argfs*5	CPT2	Deletion	Frameshift	Pathogenic	CPT2	<3	Muscle weakness, Myoglobinuria	23475205, 30455135, 30897730	Exon 2
CPT2_0029	c.200C>G	p.Ala67Gly	CPT2	SNV	Missense	Uncertain Significance	CPT2	<3	Myalgia, Rhabdomyolysis, Vomiting	29478820	Exon 2
CPT2_0030	c.213_214del	p.Leu72Glufs*2	CPT2	Deletion	Frameshift	Pathogenic	CPT2	<3			Exon 2
CPT2_0031	c.233+2T>A	Intronic	CPT2	SNV	Splice donor	Pathogenic	CPT2	<3		28747690	Intron 2
CPT2_0032	c.234-1G>A	Intronic	CPT2	SNV	Splice acceptor	Pathogenic	CPT2	3-5	Abnormal liver morph....	12560872	Intron 2
CPT2_0033	c.250T>C	p.Cys84Arg	CPT2	SNV	Missense	Uncertain Significance	CPT2	<3		16996287	Exon 3
CPT2_0034	c.256_257del	p.Ser86Phefs*2	CPT2	Deletion	Frameshift	Pathogenic	CPT2	<3		16996287	Exon 3
CPT2_0035	c.298del	p.Val100Leufs*30	CPT2	Deletion	Frameshift	Pathogenic	CPT2	<3	Myalgia, Rhabdomyolysis	36109795	Exon 3
CPT2_0036	c.302C>T	p.Ala101Val	CPT2	SNV	Missense	Likely Benign	CPT2	<3		16996287, 32978841	Exon 3
CPT2_0037	c.313C>T	p.Gln105*	CPT2	SNV	Nonsense	Pathogenic	CPT2	<3	Rhabdomyolysis	28801073	Exon 3
CPT2_0038	c.338C>T	p.Ser113Leu	CPT2	SNV	Missense	Pathogenic	CPT2	30+	Abnormal liver morph....	10090476, 10398215, 10398218, 10734268, 10738923, 10862092, 10868782, 11001791, 11585077, 11595519, 11994355, 11999976, 12362414, 12673791, 12707442, 12809643, 12840153, 14605500, 14970749, 15613406, 15622536, 15776096, 16168441, 16225172, 16671104, 16996287, 17936304, 18471680, 18550408, 18645163, 20505667, 20810031, 21378393, 21913903, 23184072, 23475205, 24305961, 24398345, 24563797, 24602495, 24786990, 24843804, 24898617, 25513977, 26913919, 27034144, 27067077, 27085974, 27629963, 27843283, 28468868, 28779239, 28801073, 28871440, 29478820, 29731937, 29744303, 30007356, 30149802, 30262761, 30455135, 30514913, 30881520, 30897730, 30957255, 31070454, 31191612, 31235404, 31407473, 31517061, 31624327, 31638495, 32463482, 32721234, 32793418, 32928639, 32978841, 33122977, 33123633, 33201363, 33304817, 35256318, 36109795, 36422281, 36473042, 36478999, 36685561, 7711426, 7711730, 8651281, 9048718, 9309694, 9562964, 9758712	Exon 3
CPT2_0039	c.340+1G>A	Intronic	CPT2	SNV	Splice donor	Pathogenic	CPT2	<3	Muscle weakness, Myoglobinuria	23475205, 30455135, 30897730	Intron 3
CPT2_0040	c.340+3A>T	Intronic	CPT2	SNV	Splice region	Likely Pathogenic	CPT2	<3		28871440, 32928639	Intron 3
CPT2_0041	c.340+5G>A	Intronic	CPT2	SNV	Splice region	Likely Pathogenic	CPT2	3-5	Muscle weakness, Myalgia, Rhabdomyolysis	12809643, 30455135, 30897730	Intron 3
CPT2_0042	c.341-2621_1121del	Intronic	CPT2	Deletion		Uncertain Significance	CPT2	<3	Atn, Myoglobinuria, Myopathy, Rhabdomyolysis	36109795	Exon 4, Intron 3
CPT2_0043	c.341-2A>G	Intronic	CPT2	SNV	Splice acceptor	Pathogenic	CPT2	<3		30957255	Intron 3
CPT2_0044	c.359A>G	p.Tyr120Cys	CPT2	SNV	Missense	Pathogenic	CPT2	6-10	Myoglobinuria	10862092, 16996287, 18550408	Exon 4
CPT2_0045	c.362T>A	p.Leu121Gln	CPT2	SNV	Missense	Likely Pathogenic	CPT2	<3	Myoglobinuria	21913903	Exon 4
CPT2_0046	c.365C>T	p.Ser122Phe	CPT2	SNV	Missense	Likely Pathogenic	CPT2	3-5		30514913	Exon 4
CPT2_0047	c.370C>T	p.Arg124*	CPT2	SNV	Nonsense	Pathogenic	CPT2	6-10	Abnormal liver morph....	16996287, 18645163, 22652984, 24305961, 32463482, 9562964	Exon 4
CPT2_0049	c.371G>C	p.Arg124Pro	CPT2	SNV	Missense	Pathogenic	CPT2	<3	Abnormality of metab....	31638495	Exon 4
CPT2_0048	c.371G>A	p.Arg124Gln	CPT2	SNV	Missense	Likely Pathogenic	CPT2	<3	Rhabdomyolysis	12673791, 12840153, 21378393, 24898617	Exon 4
CPT2_0050	c.437A>C	p.Asn146Thr	CPT2	SNV	Missense	Likely Pathogenic	CPT2	<3	Rhabdomyolysis	12673791, 12840153, 21378393	Exon 4
CPT2_0051	c.451C>T	p.Arg151Trp	CPT2	SNV	Missense	Pathogenic	CPT2	6-10	Abnormal liver morph....	17936304, 28529889, 28801073, 30514913, 32489884	Exon 4
CPT2_0052	c.452G>A	p.Arg151Gln	CPT2	SNV	Missense	Pathogenic	CPT2	11-20	Abnormality of the l....	12673791, 14605500, 17936304, 18645163, 21913903, 27843283, 30455135, 30897730, 9758712	Exon 4
CPT2_0053	c.481C>T	p.Arg161Trp	CPT2	SNV	Missense	Likely Pathogenic	CPT2	6-10	Cardiac arrest, Cola....	12673791, 22854105, 28801073, 30514913, 31235404, 33123633	Exon 4
CPT2_0054	c.482G>A	p.Arg161Gln	CPT2	SNV	Missense	Likely Pathogenic	CPT2	<3	Anuria, Fever, Malai....	31770251	Exon 4
CPT2_0055	c.517C>T	p.Pro173Ser	CPT2	SNV	Missense	Uncertain Significance	CPT2	<3	Muscle weakness, Myoglobinuria	21913903	Exon 4
CPT2_0056	c.520G>A	p.Glu174Lys	CPT2	SNV	Missense	Pathogenic	CPT2	6-10	Abnormal liver morph....	18577113, 22841441, 25919294, 2752669, 28801073, 29552494, 30514913, 35360862, 8682496, 9600456	Exon 4
CPT2_0057	c.534_558delinsT	p.Leu178_Ile186delinsPhe	CPT2	Delins	Protein altering	Pathogenic	CPT2	11-20	Abnormal liver morph....	10862092, 12560872, 16168441, 16996287, 17936304, 21641254, 21913903, 30957255, 9758712	Exon 4
CPT2_0058	c.563T>C	p.Phe188Ser	CPT2	SNV	Missense	Likely Pathogenic	CPT2	<3	Myalgia, Rhabdomyolysis	15613406	Exon 4
CPT2_0059	c.577C>T	p.Arg193Cys	CPT2	SNV	Missense	Likely Pathogenic	CPT2	<3	Limb-girdle muscular dystrophy, Myalgia	26436962	Exon 4
CPT2_0060	c.587C>T	p.Pro196Leu	CPT2	SNV	Missense	Uncertain Significance	CPT2	<3		35281663	Exon 4
CPT2_0061	c.593C>G	p.Ser198Cys	CPT2	SNV	Missense	Uncertain Significance	CPT2	<3		35572607	Exon 4
CPT2_0062	c.602G>A	p.Trp201*	CPT2	SNV	Nonsense	Pathogenic	CPT2	<3	Pain, Rhabdomyolysis	20505667, 30007356	Exon 4
CPT2_0063	c.611C>T	p.Ala204Val	CPT2	SNV	Missense	Uncertain Significance	CPT2	<3			Exon 4
CPT2_0064	c.628T>G	p.Tyr210Asp	CPT2	SNV	Missense	Likely Pathogenic	CPT2	3-5	Cardiomyopathy	14605500	Exon 4
CPT2_0065	c.631C>T	p.Pro211Ser	CPT2	SNV	Missense	Likely Pathogenic	CPT2	3-5	Limb-girdle muscle w....	35342266	Exon 4
CPT2_0066	c.638A>G	p.Asp213Gly	CPT2	SNV	Missense	Pathogenic	CPT2	3-5	Apnoea, Hypoglycemia....	15622536, 34626609	Exon 4
CPT2_0067	c.641T>C	p.Met214Thr	CPT2	SNV	Missense	Pathogenic	CPT2	<3	Rhabdomyolysis	12707442, 28801073, 30514913	Exon 4
CPT2_0068	c.647A>G	p.Gln216Arg	CPT2	SNV	Missense	Likely Pathogenic	CPT2	<3		21921422	Exon 4
CPT2_0069	c.656G>A	p.Arg219Gln	CPT2	SNV	Missense	Uncertain Significance	CPT2	<3		30514913	Exon 4
CPT2_0070	c.680C>T	p.Pro227Leu	CPT2	SNV	Missense	Pathogenic	CPT2	11-20	Abnormal cerebral co....	18550408, 25827434, 9758712, None (Abstract only)	Exon 4
CPT2_0071	c.691C>T	p.Arg231Trp	CPT2	SNV	Missense	Likely Pathogenic	CPT2	3-5	Myalgia, Myoglobinuria	16996287, 24602495, 30455135, 30897730	Exon 4
CPT2_0072	c.733G>A	p.Val245Ile	CPT2	SNV	Missense	Uncertain Significance	CPT2	<3			Exon 4
CPT2_0073	c.739A>T	p.Arg247Trp	CPT2	SNV	Missense	Likely Pathogenic	CPT2	<3	Exercise intolerance....	17936304	Exon 4
CPT2_0074	c.746del	p.Gly249Glufs*16	CPT2	Deletion	Frameshift	Pathogenic	CPT2	<3	Brain edema, Bulged ....	21921422, 25919294	Exon 4
CPT2_0075	c.748_749del	p.Asn250Phefs*5	CPT2	Deletion	Frameshift	Pathogenic	CPT2	3-5		18925671	Exon 4
CPT2_0076	c.853G>A	p.Glu285Lys	CPT2	SNV	Missense	Uncertain Significance	CPT2	<3			Exon 4
CPT2_0077	c.886C>T	p.Arg296*	CPT2	SNV	Nonsense	Pathogenic	CPT2	<3	Myalgia, Rhabdomyolysis	14605500, 34394177	Exon 4
CPT2_0078	c.887G>A	p.Arg296Gln	CPT2	SNV	Missense	Pathogenic	CPT2	<3	Abnormal liver morph....	14605500, 35028265	Exon 4
CPT2_0079	c.887G>T	p.Arg296Leu	CPT2	SNV	Missense	Likely Pathogenic	CPT2	<3	Muscle weakness, Myoglobinuria	21913903	Exon 4
CPT2_0080	c.896_906dup	p.Arg303Glyfs*8	CPT2	Duplication	Frameshift	Pathogenic	CPT2	<3		35360862	Exon 4
CPT2_0081	c.921_923del	p.Met307_Ser308delinsIle	CPT2	Deletion	Deletion	Uncertain Significance	CPT2	<3			Exon 4
CPT2_0082	c.930C>T	p.Gly310=	CPT2	SNV	Silent	Uncertain Significance	CPT2	<3		16996287	Exon 4
CPT2_0083	c.969_970del	p.Phe323Leufs*6	CPT2	Deletion	Frameshift	Pathogenic	CPT2	<3	Cardiac arrest, Lost....	28649538	Exon 4
CPT2_0084	c.977G>A	p.Cys326Tyr	CPT2	SNV	Missense	Uncertain Significance	CPT2	<3	Myoglobinuria	21913903	Exon 4
CPT2_0085	c.983A>G	p.Asp328Gly	CPT2	SNV	Missense	Pathogenic	CPT2	6-10	Abnormal liver morph....	12673791, 12840153, 14634971, 21378393	Exon 4
CPT2_0086	c.989dup	p.Ile332Hisfs*2	CPT2	Duplication	Frameshift	Pathogenic	CPT2	<3		35360862	Exon 4
CPT2_0087	c.1048C>T	p.Arg350Cys	CPT2	SNV	Missense	Uncertain Significance	CPT2	<3			Exon 4
CPT2_0088	c.1054T>C	p.Phe352Leu	CPT2	SNV	Missense	Likely Pathogenic	CPT2	<3		35360862	Exon 4
CPT2_0089	c.1073T>G	p.Leu358Arg	CPT2	SNV	Missense	Likely Pathogenic	CPT2	<3	Apnoea, Hypoglycemia....	34626609	Exon 4
CPT2_0090	c.1115_1116delinsTT	p.His372Leu	CPT2	Delins	Missense	Uncertain Significance	CPT2	<3			Exon 4
CPT2_0091	c.1117T>C	p.Ser373Pro	CPT2	SNV	Missense	Likely Pathogenic	CPT2	3-5	Muscle weakness, Myopathy, Rhabdomyolysis	30149802	Exon 4
CPT2_0092	c.1121G>A	p.Trp374*	CPT2	SNV	Nonsense	Pathogenic	CPT2	<3	Gastrointestinal-other	28801073	Exon 4
CPT2_0093	c.1130G>A	p.Gly377Asp	CPT2	SNV	Missense	Likely Pathogenic	CPT2	<3	Pain, Rhabdomyolysis	20505667, 30007356	Exon 4
CPT2_0094	c.1145G>A	p.Arg382Lys	CPT2	SNV	Missense	Uncertain Significance	CPT2	<3		10607472	Exon 4
CPT2_0095	c.1148T>A	p.Phe383Tyr	CPT2	SNV	Missense	Pathogenic	CPT2	30+	Abnormal liver morph....	12673791, 17709715, 18363739, 21227726, 22854105, 23700290, 25919294, 27363342, 28516040, 28649538, 28747690, 28801073, 29552494, 30514913, 31372341, 32489884, 34394177, 34539730, 8682496, 9600456	Exon 4
CPT2_0096	c.1171A>G	p.Ser391Gly	CPT2	SNV	Missense	Uncertain Significance	CPT2	<3	Myalgia, Renal insuf....	29478820	Exon 4
CPT2_0097	c.1223_1224del	p.Ser408Tyrfs*13	CPT2	Deletion	Frameshift	Pathogenic	CPT2	3-5	Malaise/fatigue, Mya....	15754283, 18363739	Exon 4
CPT2_0098	c.1234G>T	p.Val412Leu	CPT2	SNV	Missense	Uncertain Significance	CPT2	<3		35342266	Exon 4
CPT2_0099	c.1239G>A	p.Gln413=	CPT2	SNV	Silent	Uncertain Significance	CPT2	<3	Asthenia, Muscle stiffness, Myalgia, Myoglobinuria	20810031	Exon 4
CPT2_0006	c.1239_1240delGA	p.Lys414Thrfs*7	CPT2	Deletion	Frameshift	Pathogenic	CPT2	<3	Abnormal liver morph....	12410208	Exon 4
CPT2_0100	c.1239_1240del	p.Lys414Thrfs*7	CPT2	Deletion	Frameshift	Pathogenic	CPT2	30+	Abnormal liver morph....	10090476, 10398218, 11477613, 12362414, 12673791, 12707442, 14970749, 16996287, 18645163, 19335026, 21913903, 24602495, 28871440, 30455135, 30897730, 31428121, 31624327, 32928639	Exon 4
CPT2_0101	c.1273_1274del	p.Thr425Trpfs*6	CPT2	Deletion	Frameshift	Pathogenic	CPT2	<3		16996287	Exon 4
CPT2_0102	c.1301T>C	p.Phe434Ser	CPT2	SNV	Missense	Uncertain Significance	CPT2	<3		35360862	Exon 4
CPT2_0009	c.1333T>C	p.Cys445Arg	CPT2	SNV	Missense	Uncertain Significance	CPT2	<3		30881520	Exon 4
CPT2_0103	c.1342T>C	p.Phe448Leu	CPT2	SNV	Missense	Uncertain Significance	CPT2	21-30	Abnormal liver morph....	10090476, 10398218, 12673791, 12707442, 19335026, 28871440, 31624327, 32928639	Exon 4
CPT2_0104	c.1345C>A	p.Gln449Lys	CPT2	SNV	Missense	Uncertain Significance	CPT2	<3	Hypoglycemia	28801073, 30514913	Exon 4
CPT2_0105	c.1348A>T	p.Arg450*	CPT2	SNV	Nonsense	Pathogenic	CPT2	<3	Asthenia, Muscle spa....	20810031, 21913903, 31517061	Exon 4
CPT2_0003	c.1352G>A	p.Gly451Glu	CPT2	SNV	Missense	Uncertain Significance	CPT2	<3	Myoglobinuria	23475205	Exon 4
CPT2_0106	c.1369A>T	p.Lys457*	CPT2	SNV	Nonsense	Pathogenic	CPT2	3-5	Decreased feeding, Myalgia, Vomiting	16996287, 30094188, 33123633, 34449523	Exon 4
CPT2_0107	c.1420G>C	p.Ala474Pro	CPT2	SNV	Missense	Uncertain Significance	CPT2	<3	Myalgia, Renal insuf....	29478820	Exon 4
CPT2_0108	c.1429C>T	p.Arg477Trp	CPT2	SNV	Missense	Uncertain Significance	CPT2	<3		28801073, 29552494, 31372341	Exon 4
CPT2_0005	c.1436A>T	p.Tyr479Phe	CPT2	SNV	Missense	Likely Pathogenic	CPT2	3-5	Myoglobinuria	12707442, 24602495	Exon 4
CPT2_0109	c.1436A>G	p.Tyr479Cys	CPT2	SNV	Missense	Likely Pathogenic	CPT2	<3		18925671	Exon 4
CPT2_0110	c.1438G>A	p.Gly480Arg	CPT2	SNV	Missense	Uncertain Significance	CPT2	<3		16996287	Exon 4
CPT2_0111	c.1444_1447del	p.Thr482Trpfs*49	CPT2	Deletion	Frameshift	Pathogenic	CPT2	<3		16996287, 33123633	Exon 4
CPT2_0112	c.1459G>A	p.Glu487Lys	CPT2	SNV	Missense	Likely Pathogenic	CPT2	3-5	Myalgia, Myoglobinuria, Pigmenturia	10868782, 30455135, 30897730	Exon 4
CPT2_0113	c.1460A>C	p.Glu487Ala	CPT2	SNV	Missense	Pathogenic	CPT2	<3			Exon 4
CPT2_0114	c.1489G>A	p.Gly497Ser	CPT2	SNV	Missense	Pathogenic	CPT2	<3	Muscle switching, Myalgia, Myoglobinuria	23911907, 30887117	Exon 4
CPT2_0115	c.1493G>T	p.Arg498Leu	CPT2	SNV	Missense	Uncertain Significance	CPT2	<3	Anuria, Fever, Malai....	31770251	Exon 4
CPT2_0116	c.1505T>C	p.Ile502Thr	CPT2	SNV	Missense	Pathogenic	CPT2	6-10	Myoglobinuria	10398215, 10862092, 30957255	Exon 4
CPT2_0117	c.1507C>T	p.Arg503Cys	CPT2	SNV	Missense	Pathogenic	CPT2	11-20	Abnormal liver morph....	10090476, 10398218, 10873395, 11001791, 17372854, 19762733, 21913903, 8515756	Exon 4
CPT2_0118	c.1511C>T	p.Pro504Leu	CPT2	SNV	Missense	Pathogenic	CPT2	11-20		16996287, 17936304, 18306170, 18550408, 26537576, 28801073, 28871440, 30514913, 31638495, 32928639	Exon 4
CPT2_0119	c.1525A>G	p.Thr509Ala	CPT2	SNV	Missense	Likely Benign	CPT2	<3		28801073, 30514913	Exon 4
CPT2_0120	c.1547T>C	p.Phe516Ser	CPT2	SNV	Missense	Pathogenic	CPT2	<3	Asthenia, Contractur....	20810031, 21913903, 35281663	Exon 4
CPT2_0121	c.1569_1570del	p.His523Glnfs*4	CPT2	Deletion	Frameshift	Pathogenic	CPT2	<3		16996287	Exon 4
CPT2_0122	c.1579G>A	p.Glu527Lys	CPT2	SNV	Missense	Uncertain Significance	CPT2	<3	Myalgia, Rhabdomyolysis	28801073	Exon 4
CPT2_0123	c.1634A>C	p.Glu545Ala	CPT2	SNV	Missense	Conflict	CPT2	<3		20952238, 28801073, 30514913	Exon 4
CPT2_0124	c.1634_1636del	p.Glu545del	CPT2	Deletion	Deletion	Uncertain Significance	CPT2	<3		16996287	Exon 4
CPT2_0125	c.1645+5G>A	Intronic	CPT2	SNV	Splice region	Uncertain Significance	CPT2	<3		16996287	Intron 4
CPT2_0126	c.1645+20C>T	Intronic	CPT2	SNV	Intronic	Uncertain Significance	CPT2	<3			Intron 4
CPT2_0127	c.1646-1G>T	Intronic	CPT2	SNV	Splice acceptor	Pathogenic	CPT2	<3		30957255	Intron 4
CPT2_0128	c.1646G>A	p.Gly549Asp	CPT2	SNV	Missense	Pathogenic	CPT2	3-5		10398218, 16996287	Exon 5
CPT2_0129	c.1647_1650del	p.Gln550Alafs*32	CPT2	Deletion	Frameshift	Pathogenic	CPT2	<3	Myoglobinuria	24602495	Exon 5
CPT2_0130	c.1649A>G	p.Gln550Arg	CPT2	SNV	Missense	Uncertain Significance	CPT2	<3		9758712	Exon 5
CPT2_0131	c.1657G>A	p.Asp553Asn	CPT2	SNV	Missense	Pathogenic	CPT2	<3	Myoglobinuria	17936304, 7711730	Exon 5
CPT2_0132	c.1660C>T	p.Arg554*	CPT2	SNV	Nonsense	Pathogenic	CPT2	<3	Myoglobinuria	17936304	Exon 5
CPT2_0133	c.1665C>G	p.His555Gln	CPT2	SNV	Missense	Uncertain Significance	CPT2	3-5	Lethargy, Muscle spa....	29744303	Exon 5
CPT2_0134	c.1666_1667del	p.Leu556Valfs*16	CPT2	Deletion	Frameshift	Pathogenic	CPT2	3-5	Diarrhea, Muscle wea....	28871440, 29478820, 32928639	Exon 5
CPT2_0135	c.1678C>T	p.Arg560Trp	CPT2	SNV	Missense	Likely Pathogenic	CPT2	3-5	Rhabdomyolysis	30514913	Exon 5
CPT2_0136	c.1679G>A	p.Arg560Gln	CPT2	SNV	Missense	Likely Pathogenic	CPT2	<3		16996287	Exon 5
CPT2_0137	c.1711C>A	p.Pro571Thr	CPT2	SNV	Missense	Pathogenic	CPT2	3-5		28771436, 35360862	Exon 5
CPT2_0138	c.1724T>C	p.Leu575Pro	CPT2	SNV	Missense	Likely Pathogenic	CPT2	<3	Asthenia, Malaise/fa....	20810031, 21913903	Exon 5
CPT2_0139	c.1727A>G	p.Asp576Gly	CPT2	SNV	Missense	Likely Pathogenic	CPT2	<3	Myoglobinuria	17936304	Exon 5
CPT2_0140	c.1737del	p.Tyr579*	CPT2	Deletion	Frameshift	Pathogenic	CPT2	<3	Abnormal liver morph....	18577113	Exon 5
CPT2_0141	c.1749C>A	p.Asn583Lys	CPT2	SNV	Missense	Uncertain Significance	CPT2	<3		34539730	Exon 5
CPT2_0142	c.1763C>G	p.Ser588Cys	CPT2	SNV	Missense	Likely Benign	CPT2	<3		16996287	Exon 5
CPT2_0002	c.1769G>A	p.Ser590Asn	CPT2	SNV	Missense	Likely Pathogenic	CPT2	<3	Myalgia, Myoglobinuria	23475205	Exon 5
CPT2_0143	c.1784del	p.Pro595Glnfs*3	CPT2	Deletion	Frameshift	Pathogenic	CPT2	3-5	Abnormal renal morph....	18550408, 22899091	Exon 5
CPT2_0144	c.1798G>A	p.Gly600Arg	CPT2	SNV	Missense	Pathogenic	CPT2	3-5		33123633	Exon 5
CPT2_0145	c.1803del	p.Phe602Leufs*20	CPT2	Deletion	Frameshift	Pathogenic	CPT2	<3	Abnormal liver morph....	23700290	Exon 5
CPT2_0146	c.1806del	p.Phe602Leufs*20	CPT2	Deletion	Frameshift	Pathogenic	CPT2	3-5	Abnormal liver morph....	31599017	Exon 5
CPT2_0147	c.1810C>T	p.Pro604Ser	CPT2	SNV	Missense	Likely Pathogenic	CPT2	<3		16996287, 9758712	Exon 5
CPT2_0148	c.1813G>C	p.Val605Leu	CPT2	SNV	Missense	Pathogenic	CPT2	6-10	Cardiac arrest, Ence....	18306170, 18363739, 28649538, 28801073, 30514913	Exon 5
CPT2_0149	c.1816_1817del	p.Val606Leufs*2	CPT2	Deletion	Frameshift	Pathogenic	CPT2	<3		16996287	Exon 5
CPT2_0150	c.1822G>C	p.Asp608His	CPT2	SNV	Missense	Likely Pathogenic	CPT2	<3	Pain, Rhabdomyolysis	12673791, 20505667	Exon 5
CPT2_0151	c.1838G>A	p.Gly613Glu	CPT2	SNV	Missense	Uncertain Significance	CPT2	<3	Abnormal renal morph....	28468868	Exon 5
CPT2_0152	c.1858T>C	p.Trp620Arg	CPT2	SNV	Missense	Uncertain Significance	CPT2	<3			Exon 5
CPT2_0153	c.1883A>C	p.Tyr628Ser	CPT2	SNV	Missense	Pathogenic	CPT2	6-10	Abnormal liver morph....	10398215, 10734268, 12673791, 15613406, 1999498, 20661589, 21378393, 8651281	Exon 5
CPT2_0154	c.1891C>T	p.Arg631Cys	CPT2	SNV	Missense	Pathogenic	CPT2	30+	Abnormal liver morph....	1528846, 15754283, 16996287, 17651973, 17936304, 18363739, 18645163, 20810031, 21913903, 28801073, 32463482, 35028265, 35372350, 36422281	Exon 5
CPT2_0155	c.1892G>A	p.Arg631His	CPT2	SNV	Missense	Likely Pathogenic	CPT2	<3	Muscle weakness, Myalgia, Rhabdomyolysis	35256318	Exon 5
CPT2_0156	c.1925_1937del	p.Lys642Thrfs*6	CPT2	Deletion	Frameshift	Pathogenic	CPT2	<3	Abnormal liver morph....	18550408	Exon 5
CPT2_0157	c.1931T>C	p.Leu644Ser	CPT2	SNV	Missense	Likely Pathogenic	CPT2	<3	Cardiac arrest	21227726	Exon 5
CPT2_0158	c.1932dup	p.Glu645Argfs*5	CPT2	Duplication	Frameshift	Pathogenic	CPT2	6-10	Myalgia, Myoglobinuria, Seizure	17936304, 20810031, 21913903	Exon 5
CPT2_0159	c.1933G>T	p.Glu645*	CPT2	SNV	Nonsense	Pathogenic	CPT2	<3	Rhabdomyolysis	30514913	Exon 5
CPT2_0160	c.1964C>A	p.Ser655Tyr	CPT2	SNV	Missense	Uncertain Significance	CPT2	<3			Exon 5

Notes:

* Click the PMID number to go to the corresponding publication.
* All variants are referencing NM_000098.3 and there is no change between these versions with respect to the coding sequence.
* Genomic coordinates are calculated based on variant data provided: in some cases coordinates are estimated in order to allow users to sort the variants linearly, by approximation.

Definition of acronyms:

"*": Referenced a stop codon insertion when listed under amino acid change.
ACMG: American College of Medical Genetics and Genomics
CNV: Copy number variant which here describes a change 100 DNA nucleotides or larger.
SNV: Single DNA nucleotide variant
del: Deletion
dup: Duplication
fs: Frameshift
ins: Insertion

References:

Verderio, E. et al., Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations. Human Mol Genet. 1995 Jan;4(1):19-29.
https://www.ncbi.nlm.nih.gov/gene/1376
https://www.omim.org/entry/600650?search=cpt2&highlight=cpt2
Yasuno et al. Biochem Biophys Res Commun. 2014 30;448(2):175-81
Violante, S. et al., Carnitine palmitoyltransferase 2: New insights on the substrate specificity and implications for acylcarnitine profiling. Biochim Biophys Acta. 2010 Sep;1802(9):728-32.
https://www.uniprot.org/uniprotkb/P23786/entry#expression
Richbourg et al. (2023) Phenotype associations from a comprehensive database of long-chain fatty acid oxidation disorder gene variants (Abstract and poster presentation, American Society of Human Genetics 2023).

Introduction

Variant List

Gene Structure

Give us a moment while we fetch the data.