PDB ID 2FYO     CHAIN A
Protein name Carnitine O-palmitoyltransferase II, mitochondrial
Uniprot Accession P18886
The number of similar proteins 8
The number of binding states 1
The number of binding partners 0

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
2FYO (CHAIN: A)
1 Monomeric state

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Format:

Molecule viewer


Only interaction residues
#binding
partners
  0

Sequence information

1   MGSSHHHHHH   SSGLVPRGSH   MAVSGPDDYL   QHSIVPTXHY   QDSLPRLPIP   50
51   KLEDTXKRYL   NAQKPLLDDS   QFRRTEALCK   NFETGVGKEL   HAHLLAQDKQ   100
101   NKHTSYISGP   WFDXYLTARD   SIVLNFNPFX   AFNPDPKSEY   NDQLTRATNL   150
151   TVSAVRFLKT   LQAGLLEPEV   FHLNPSKSDT   DAFKRLIRFV   PPSLSWYGAY   200
201   LVNAYPLDXS   QYFRLFNSTR   IPRPNRDELF   TDTKARHLLV   LRKGHFYVFD   250
251   VLDQDGNIVN   PLEIQAHLKY   ILSDSSPVPE   FPVAYLTSEN   RDVWAELRQK   300
301   LIFDGNEETL   KKVDSAVFCL   CLDDFPXKDL   IHLSHTXLHG   DGTNRWFDKS   350
351   FNLIVAEDGT   AAVHFEHSWG   DGVAVLRFFN   EVFRDSTQTP   AITPQSQPAA   400
401   TNSSASVETL   SFNLSGALKA   GITAAKEKFD   TTVKTLSIDS   IQFQRGGKEF   450
451   LKKKQLSPDA   VAQLAFQXAF   LRQYGQTVAT   YESCSTAAFK   HGRTETIRPA   500
501   SIFTKRCSEA   FVRDPSKHSV   GELQHXXAEC   SKYHGQLTKE   AAXGQGFDRH   550
551   LYALRYLATA   RGLNLPELYL   DPAYQQXNHN   ILSTSTLNSP   AVSLGGFAPV   600
601   VPDGFGIAYA   VHDDWIGCNV   SSYSGRNARE   FLHCVQKCLE   DIFDALEGKA   650
651   IKT           700

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
34_TYR TER ClinVar
chr1:53662717 		rs1317793581
Likely pathogenic - Carnitine palmitoyl transferase II deficiency, severe infantile form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305]
36_GLN TER 8.3kJPN
chr1:53662721 		-
- 0.0001 -
45_TYR TER ClinVar
chr1:53662750 		rs1645327989
Pathogenic - Carnitine palmitoyltransferase II deficiency [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157]
50_PRO HIS ClinVar
chr1:53662764 		rs28936375
Pathogenic - Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyltransferase II deficiency|not provided|8 conditions|Carnitine palmitoyl transferase II deficiency, neonatal form [MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MedGen:C3661900|8 conditions|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308]; Carnitine palmitoyl transferase II deficiency, myopathic form [MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302]; Carnitine palmitoyl transferase II deficiency, severe infantile form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305]; Encephalopathy, acute, infection-induced, susceptibility to, 4|Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]
50_PRO SER ClinVar
chr1:53662763 		-
Likely pathogenic - Carnitine palmitoyltransferase II deficiency [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157]
50_PRO HIS gnomAD
chr1:53662764 		rs28936375
- 0.000173036 -
63_ARG ILE ClinVar
chr1:53666426 		rs748182542
Pathogenic - Carnitine palmitoyltransferase II deficiency [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157]
63_ARG TER ClinVar
chr1:53666425 		-
Likely pathogenic - Carnitine palmitoyl transferase II deficiency, neonatal form [MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308]; Carnitine palmitoyl transferase II deficiency, severe infantile form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305]; Carnitine palmitoyl transferase II deficiency, myopathic form [MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302]
64_TYR TER ClinVar
chr1:53666430 		-
Likely pathogenic - Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]
67_ALA GLY ClinVar
chr1:53666438 		rs201966320
Likely pathogenic - Carnitine palmitoyltransferase II deficiency|not provided|Encephalopathy, acute, infection-induced, susceptibility to, 4|Carnitine palmitoyl transferase II deficiency, severe infantile form [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MedGen:C3661900|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305]
68_GLN TER ClinVar
chr1:53666440 		rs771406546
Pathogenic - not provided|Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, severe infantile form [MedGen:C3661900|MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305]
72_LEU TER ClinVar
chr1:53666453 		-
Pathogenic - Carnitine palmitoyltransferase II deficiency [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157]
84_CYS TYR ClinVar
chr1:53668012 		rs909671156
Likely pathogenic - Carnitine palmitoyl transferase II deficiency, neonatal form [MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308]
101_ALA VAL gnomAD
chr1:53668063 		rs75939866
- 0.00154698 -
113_SER LEU ClinVar
chr1:53668099 		rs74315294
Pathogenic/Likely pathogenic - Carnitine palmitoyl transferase II deficiency, myopathic form|not provided|Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, neonatal form [MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302|MedGen:C3661900|MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308]; Carnitine palmitoyl transferase II deficiency, myopathic form [MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302]; Carnitine palmitoyl transferase II deficiency, severe infantile form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305]; Encephalopathy, acute, infection-induced, susceptibility to, 4|Carnitine palmitoyl transferase II deficiency, severe infantile form|Inborn genetic diseases|Rhabdomyolysis|Carnitine palmitoyl transferase II deficiency, neonatal form [MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|MeSH:D030342,MedGen:C0950123|Human Phenotype Ontology:HP:0003201,MedGen:C0035410|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308]; Carnitine palmitoyl transferase II deficiency, severe infantile form|Abnormality of the musculature|Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]
113_SER LEU 8.3kJPN
chr1:53668099 		rs74315294
- 0.0007 -
116_TRP TER ClinVar
chr1:53675693 		rs1645411052
Pathogenic/Likely pathogenic - Carnitine palmitoyltransferase II deficiency|not provided [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MedGen:C3661900]
118_ASP GLY gnomAD
chr1:53675699 		rs148035648
- 0.00202539 -
120_TYR CYS ClinVar
chr1:53675705 		rs121918528
Pathogenic/Likely pathogenic - Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, neonatal form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308]; Carnitine palmitoyl transferase II deficiency, myopathic form [MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302]; Carnitine palmitoyl transferase II deficiency, severe infantile form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305]; Encephalopathy, acute, infection-induced, susceptibility to, 4|not provided|Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524|MedGen:C3661900|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]
122_SER PHE gnomAD
chr1:53675711 		rs192275019
- 0.000413904 -
122_SER PHE 8.3kJPN
chr1:53675711 		rs192275019
- 0.0041 -
124_ARG TER ClinVar
chr1:53675716 		rs201065226
Pathogenic/Likely pathogenic - not provided|Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyl transferase II deficiency, neonatal form [MedGen:C3661900|MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308]; Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, neonatal form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308]; Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]; Carnitine palmitoyl transferase II deficiency, severe infantile form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305]; Carnitine palmitoyl transferase II deficiency, myopathic form|Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]
150_THR ALA gnomAD
chr1:53675794 		rs141505320
- 0.000155077 -
151_ARG GLN ClinVar
chr1:53675798 		rs515726177
Pathogenic/Likely pathogenic - Carnitine palmitoyltransferase II deficiency|not provided|Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, neonatal form [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MedGen:C3661900|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308]; Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]; Carnitine palmitoyl transferase II deficiency, severe infantile form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305]; Carnitine palmitoyl transferase II deficiency, myopathic form|Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]
151_ARG TRP ClinVar
chr1:53675797 		rs200080591
Pathogenic - Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, severe infantile form|Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]
152_ALA GLY 8.3kJPN
chr1:53675801 		rs755331246
- 0.0001 -
157_VAL ALA 8.3kJPN
chr1:53675816 		-
- 0.0001 -
167_ARG GLN gnomAD
chr1:53675846 		rs144760921
- 0.000194848 -
167_ARG TRP 8.3kJPN
chr1:53675845 		rs780940242
- 0.0001 -
174_GLU LYS ClinVar
chr1:53675866 		rs28936674
Pathogenic/Likely pathogenic - Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyltransferase II deficiency|Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]
174_GLU TER ClinVar
chr1:53675866 		rs28936674
Pathogenic/Likely pathogenic - Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyltransferase II deficiency [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157]
174_GLU LYS 8.3kJPN
chr1:53675866 		rs28936674
- 0.0001 -
193_ARG CYS gnomAD
chr1:53675923 		rs375968699
- 0.000365913 -
201_TRP TER ClinVar
chr1:53675949 		rs745547578
Pathogenic - Carnitine palmitoyltransferase II deficiency [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157]
201_TRP TER ClinVar
chr1:53675948 		-
Pathogenic - Carnitine palmitoyltransferase II deficiency [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157]
202_TYR TER ClinVar
chr1:53675952 		rs755830520
Likely pathogenic - Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyl transferase II deficiency, severe infantile form [MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308|MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305]
202_TYR TER ClinVar
chr1:53675952 		rs755830520
Likely pathogenic - Carnitine palmitoyl transferase II deficiency, severe infantile form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305]
213_ASP GLY ClinVar
chr1:53675984 		rs74315300
Pathogenic - Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyltransferase II deficiency [MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302|MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157]
216_GLN TER ClinVar
chr1:53675992 		-
Pathogenic - Carnitine palmitoyltransferase II deficiency [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157]
225_ARG CYS 8.3kJPN
chr1:53676019 		rs759733220
- 0.0001 -
227_PRO LEU ClinVar
chr1:53676026 		rs74315298
Pathogenic/Likely pathogenic - Carnitine palmitoyl transferase II deficiency, neonatal form|not provided|Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, neonatal form [MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308|MedGen:C3661900|MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308]; Carnitine palmitoyl transferase II deficiency, myopathic form [MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302]; Carnitine palmitoyl transferase II deficiency, severe infantile form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305]; Encephalopathy, acute, infection-induced, susceptibility to, 4|Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]
231_ARG GLN gnomAD
chr1:53676038 		rs369369333
- 0.000151486 -
233_GLU LYS 8.3kJPN
chr1:53676043 		-
- 0.0001 -
241_ARG TER ClinVar
chr1:53676067 		rs200252755
Pathogenic - Carnitine palmitoyltransferase II deficiency [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157]
241_ARG GLY gnomAD
chr1:53676067 		rs200252755
- 0.000143379 -
249_GLY TER ClinVar
chr1:53676091 		rs2100272595
Pathogenic - Carnitine palmitoyltransferase II deficiency [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157]
270_GLN TER ClinVar
chr1:53676154 		rs1645416037
Pathogenic - Carnitine palmitoyltransferase II deficiency [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157]
283_ALA VAL 8.3kJPN
chr1:53676194 		rs1401737158
- 0.0001 -
293_SER GLY gnomAD
chr1:53676223 		rs145237292
- 0.000111409 -
296_ARG TER ClinVar
chr1:53676232 		rs727503887
Pathogenic/Likely pathogenic - not provided|Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyltransferase II deficiency|Encephalopathy, acute, infection-induced, susceptibility to, 4 [MedGen:C3661900|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]; Carnitine palmitoyl transferase II deficiency, severe infantile form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305]; Carnitine palmitoyl transferase II deficiency, myopathic form [MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302]; Carnitine palmitoyl transferase II deficiency, neonatal form|Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]
296_ARG PRO ClinVar
chr1:53676233 		rs764849762
Likely pathogenic - Carnitine palmitoyltransferase II deficiency [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157]
296_ARG GLY ClinVar
chr1:53676232 		-
Likely pathogenic - Carnitine palmitoyltransferase II deficiency [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157]
299_TRP TER ClinVar
chr1:53676242 		rs757881397
Pathogenic - Carnitine palmitoyltransferase II deficiency [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157]
300_ALA THR 8.3kJPN
chr1:53676244 		-
- 0.0001 -
311_ASN SER gnomAD
chr1:53676278 		rs142790440
- 0.000330138 -
320_SER LEU 8.3kJPN
chr1:53676305 		rs763703786
- 0.0001 -
328_ASP GLY ClinVar
chr1:53676329 		rs515726175
Likely pathogenic - Carnitine palmitoyltransferase II deficiency [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157]
342_MET THR gnomAD
chr1:53676371 		rs144658100
- 0.00103945 -
345_GLY ARG ClinVar
chr1:53676379 		rs771214714
Likely pathogenic - Carnitine palmitoyl transferase II deficiency, neonatal form [MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308]
350_ARG CYS gnomAD
chr1:53676394 		rs151003641
- 0.000246849 -
350_ARG HIS 8.3kJPN
chr1:53676395 		rs773966429
- 0.0001 -
351_TRP TER ClinVar
chr1:53676399 		rs761438840
Likely pathogenic - Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyl transferase II deficiency, severe infantile form [MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308|MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305]
351_TRP TER ClinVar
chr1:53676398 		rs1645419457
Pathogenic - Carnitine palmitoyltransferase II deficiency [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157]
351_TRP GLY 8.3kJPN
chr1:53676397 		-
- 0.0001 -
352_PHE CYS gnomAD
chr1:53676401 		rs2229291
- 0.0233637 -
352_PHE CYS 8.3kJPN
chr1:53676401 		rs2229291
- 0.1818 -
360_ILE THR 8.3kJPN
chr1:53676425 		rs752737849
- 0.0012 -
368_VAL ILE gnomAD
chr1:53676448 		rs1799821
- 0.487684 -
368_VAL ILE 8.3kJPN
chr1:53676448 		rs1799821
- 0.6894 -
374_TRP TER ClinVar
chr1:53676468 		-
Likely pathogenic - not provided [MedGen:C3661900]
374_TRP TER ClinVar
chr1:53676467 		-
Pathogenic - Carnitine palmitoyltransferase II deficiency [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157]
383_PHE TYR ClinVar
chr1:53676494 		rs74315295
Pathogenic/Likely pathogenic - Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, neonatal form|Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]; Carnitine palmitoyl transferase II deficiency, neonatal form [MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308]; Carnitine palmitoyl transferase II deficiency, severe infantile form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305]; Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyl transferase II deficiency, neonatal form [MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308]; Carnitine palmitoyl transferase II deficiency, severe infantile form|Seizure [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:HP:0002279,Human Phenotype Ontology:HP:0002306,Human Phenotype Ontology:HP:0002348,Human Phenotype Ontology:HP:0002391,Human Phenotype Ontology:HP:0002417,Human Phenotype Ontology:HP:0002430,Human Phenotype Ontology:HP:0002431,Human Phenotype Ontology:HP:0002432,Human Phenotype Ontology:HP:0002434,Human Phenotype Ontology:HP:0002437,Human Phenotype Ontology:HP:0002466,Human Phenotype Ontology:HP:0002479,Human Phenotype Ontology:HP:0002794,Human Phenotype Ontology:HP:0006997,Human Phenotype Ontology:HP:0010520,MedGen:C0036572]; Abnormality of the nervous system|Encephalopathy, acute, infection-induced, susceptibility to, 4 [Human Phenotype Ontology:HP:0000707,Human Phenotype Ontology:HP:0001333,Human Phenotype Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]
383_PHE TYR 8.3kJPN
chr1:53676494 		rs74315295
- 0.0008 -
397_VAL ILE 8.3kJPN
chr1:53676535 		rs201745292
- 0.0001 -
411_THR MET 8.3kJPN
chr1:53676578 		rs375957043
- 0.0001 -
412_VAL LEU gnomAD
chr1:53676580 		rs575447822
- 0.000139235 -
447_GLN TER ClinVar
chr1:53676685 		rs1446745791
Pathogenic - Carnitine palmitoyltransferase II deficiency [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157]
448_PHE LEU gnomAD
chr1:53676688 		rs74315297
- 0.000210835 -
449_GLN TER ClinVar
chr1:53676691 		rs1057517492
Pathogenic/Likely pathogenic - Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, myopathic form|not provided [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308|MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302|MedGen:C3661900]
450_ARG TER ClinVar
chr1:53676694 		rs755395180
Pathogenic/Likely pathogenic - Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyltransferase II deficiency [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157]
453_LYS GLU 8.3kJPN
chr1:53676703 		-
- 0.0001 -
454_GLU TER ClinVar
chr1:53676706 		rs74315299
Pathogenic - Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyltransferase II deficiency [MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302|MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157]
457_LYS TER ClinVar
chr1:53676715 		rs756931329
Pathogenic/Likely pathogenic - Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, severe infantile form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305]; Carnitine palmitoyl transferase II deficiency, myopathic form [MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302]; Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]; Carnitine palmitoyl transferase II deficiency, neonatal form|not provided|Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308|MedGen:C3661900|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]
458_LYS GLN gnomAD
chr1:53676718 		rs147276580
- 0.000238753 -
458_LYS GLN 8.3kJPN
chr1:53676718 		rs147276580
- 0.0001 -
459_GLN TER ClinVar
chr1:53676721 		rs1553169771
Likely pathogenic - Carnitine palmitoyl transferase II deficiency, severe infantile form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305]
459_GLN ARG 8.3kJPN
chr1:53676722 		-
- 0.0001 -
468_GLN TER ClinVar
chr1:53676748 		rs964928101
Pathogenic - Carnitine palmitoyltransferase II deficiency [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157]
470_ALA SER 8.3kJPN
chr1:53676754 		rs756326862
- 0.0001 -
472_GLN TER ClinVar
chr1:53676760 		rs754386565
Pathogenic/Likely pathogenic - Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyl transferase II deficiency, severe infantile form|Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308|MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]; Carnitine palmitoyl transferase II deficiency, severe infantile form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305]; Carnitine palmitoyl transferase II deficiency, myopathic form [MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302]; Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyltransferase II deficiency|Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308|MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]
475_PHE LEU 8.3kJPN
chr1:53676769 		-
- 0.0001 -
478_GLN TER ClinVar
chr1:53676778 		rs1469108369
Likely pathogenic - Carnitine palmitoyl transferase II deficiency, severe infantile form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305]
479_TYR CYS ClinVar
chr1:53676782 		rs749895856
Likely pathogenic - Carnitine palmitoyltransferase II deficiency [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157]
479_TYR TER ClinVar
chr1:53676783 		-
Pathogenic/Likely pathogenic - Carnitine palmitoyltransferase II deficiency|Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]
480_GLY ARG gnomAD
chr1:53676784 		rs201508063
- 0.000195291 -
481_GLN TER ClinVar
chr1:53676787 		-
Pathogenic - Carnitine palmitoyltransferase II deficiency [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157]
485_THR SER 8.3kJPN
chr1:53676800 		-
- 0.0001 -
487_GLU TER ClinVar
chr1:53676805 		rs778743524
Pathogenic - Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyltransferase II deficiency [MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308|MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157]
489_CYS ARG 8.3kJPN
chr1:53676811 		rs1196921350
- 0.0001 -
497_GLY SER 8.3kJPN
chr1:53676835 		rs1479961277
- 0.0001 -
499_THR SER 8.3kJPN
chr1:53676842 		rs1466072211
- 0.0001 -
503_ARG CYS ClinVar
chr1:53676853 		rs74315296
Pathogenic/Likely pathogenic - Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, neonatal form [MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302|MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308]; Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, neonatal form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308]; Carnitine palmitoyl transferase II deficiency, myopathic form [MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302]; Carnitine palmitoyl transferase II deficiency, severe infantile form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305]; Encephalopathy, acute, infection-induced, susceptibility to, 4|not provided|Carnitine palmitoyl transferase II deficiency, severe infantile form|Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524|MedGen:C3661900|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]
504_PRO LEU ClinVar
chr1:53676857 		rs368311455
Pathogenic/Likely pathogenic - Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, severe infantile form|not provided|Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|MedGen:C3661900|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]
504_PRO LEU 8.3kJPN
chr1:53676857 		rs368311455
- 0.0001 -
507_VAL ILE gnomAD
chr1:53676865 		rs142600166
- 0.000206839 -
517_VAL LEU 8.3kJPN
chr1:53676895 		-
- 0.0001 -
520_PRO LEU 8.3kJPN
chr1:53676905 		rs776754218
- 0.0011 -
529_GLN TER ClinVar
chr1:53676931 		rs1645426286
Likely pathogenic - not provided [MedGen:C3661900]
531_MET VAL 8.3kJPN
chr1:53676937 		-
- 0.0001 -
533_VAL ALA gnomAD
chr1:53676944 		rs144703247
- 0.000477033 -
538_TYR TER ClinVar
chr1:53676960 		rs1057517517
Likely pathogenic - Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, myopathic form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308|MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302]
545_GLU ALA gnomAD
chr1:53676980 		rs17848485
- 0.000803368 -
545_GLU ALA 8.3kJPN
chr1:53676980 		rs17848485
- 0.0073 -
554_ARG TER ClinVar
chr1:53678950 		rs539239516
Pathogenic - Carnitine palmitoyltransferase II deficiency|Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]
555_HIS GLN ClinVar
chr1:53678955 		rs1557719450
Pathogenic - Carnitine palmitoyltransferase II deficiency [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157]
560_ARG TRP 8.3kJPN
chr1:53678968 		rs759016933
- 0.0002 -
579_TYR TER ClinVar
chr1:53679027 		-
Pathogenic - Carnitine palmitoyltransferase II deficiency [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157]
580_GLY ARG gnomAD
chr1:53679028 		rs569609298
- 0.000163037 -
588_SER CYS gnomAD
chr1:53679053 		rs1871748
- 0.000759516 -
589_THR MET 8.3kJPN
chr1:53679056 		rs756414686
- 0.0001 -
600_GLY ARG ClinVar
chr1:53679088 		rs1645443101
Pathogenic - Carnitine palmitoyltransferase II deficiency [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157]
600_GLY GLU ClinVar
chr1:53679089 		-
Likely pathogenic - Carnitine palmitoyltransferase II deficiency [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157]
605_VAL LEU ClinVar
chr1:53679103 		rs751557097
Pathogenic/Likely pathogenic - Carnitine palmitoyltransferase II deficiency|Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]
605_VAL LEU 8.3kJPN
chr1:53679103 		rs751557097
- 0.0004 -
607_SER CYS 8.3kJPN
chr1:53679110 		rs201913567
- 0.0007 -
617_HIS TYR 8.3kJPN
chr1:53679139 		rs201996784
- 0.0001 -
620_TRP TER ClinVar
chr1:53679149 		rs1553170005
Likely pathogenic - Carnitine palmitoyl transferase II deficiency, severe infantile form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305]
628_TYR SER ClinVar
chr1:53679173 		rs28936673
Pathogenic/Likely pathogenic - Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, myopathic form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302]
631_ARG CYS ClinVar
chr1:53679181 		rs74315293
Pathogenic - Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, myopathic form|not provided|Carnitine palmitoyl transferase II deficiency, neonatal form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305|MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302|MedGen:C3661900|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836,Orphanet:228308]; Carnitine palmitoyl transferase II deficiency, myopathic form [MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110,Orphanet:157,Orphanet:228302]; Carnitine palmitoyl transferase II deficiency, severe infantile form [MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649,Orphanet:228305]; Encephalopathy, acute, infection-induced, susceptibility to, 4|Encephalopathy, acute, infection-induced, susceptibility to, 4 [MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,Orphanet:263524]
631_ARG CYS 8.3kJPN
chr1:53679181 		rs74315293
- 0.0001 -
640_VAL LEU 8.3kJPN
chr1:53679208 		-
- 0.0002 -
647_MET VAL gnomAD
chr1:53679229 		rs1799822
- 0.164448 -
647_MET VAL 8.3kJPN
chr1:53679229 		rs1799822
- 0.0516 -
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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

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