PDB ID | 2DEB | 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 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
2DEB (CHAIN: A) | |
1 | Monomeric state |
Only interaction residues |
|
||||
|
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 | - |