PDB ID | 1ZY8
|
CHAIN | A |
---|---|---|---|
Protein name | Dihydrolipoyl dehydrogenase, mitochondrial | ||
Uniprot Accession | P09622 | ||
The number of similar proteins | 34 | ||
The number of binding states | 4 | ||
The number of binding partners | 4 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1ZY8 (CHAIN: A) | |
1 |
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2 |
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3 |
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4 |
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Only interaction residues |
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|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
9_VAL | LEU |
8.3kJPN chr7:107542194 |
-
|
- | 0.0002 | - | |
12_ILE | THR | VAR_076985 |
rs397514651
|
LP/P | - | Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] | |
12_ILE | THR |
ClinVar chr7:107542204 |
rs397514651
|
Pathogenic | - | Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765] | |
24_LYS | TER |
ClinVar chr7:107542239 |
-
|
Pathogenic | - | Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765] | |
26_ALA | VAL |
ClinVar chr7:107542246 |
rs796051947
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
27_GLN | ARG |
ClinVar chr7:107542249 |
rs796051948
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
27_GLN | TER |
ClinVar chr7:107542248 |
-
|
Pathogenic | - | Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765] | |
37_LYS | GLU | VAR_006907 |
rs121964987
|
LP/P | - | Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] | |
37_LYS | GLU |
ClinVar chr7:107542785 |
rs121964987
|
Pathogenic | - | Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765] | |
37_LYS | GLU |
8.3kJPN chr7:107542785 |
rs121964987
|
- | 0.0001 | - | |
69_LYS | THR | VAR_031922 |
rs1130477
|
LB/B | - | - | |
74_ARG | TER |
ClinVar chr7:107543980 |
rs2031930307
|
Likely pathogenic | - | Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765] | |
80_GLU | LYS |
8.3kJPN chr7:107545408 |
rs1406938872
|
- | 0.0001 | - | |
98_ALA | VAL |
8.3kJPN chr7:107545463 |
-
|
- | 0.0001 | - | |
101_GLY | SER |
8.3kJPN chr7:107545471 |
rs369005899
|
- | 0.0002 | - | |
105_HIS | GLN |
8.3kJPN chr7:107545485 |
rs1232349000
|
- | 0.0002 | - | |
118_TYR | TER |
ClinVar chr7:107545826 |
rs2116221384
|
Pathogenic | - | Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765] | |
139_ILE | THR |
8.3kJPN chr7:107545888 |
rs778981396
|
- | 0.0001 | - | |
142_LYS | TER |
ClinVar chr7:107545896 |
-
|
Pathogenic | - | Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765] | |
153_THR | ILE |
8.3kJPN chr7:107545930 |
-
|
- | 0.0001 | - | |
176_LYS | ILE |
8.3kJPN chr7:107546761 |
-
|
- | - | - | |
194_GLY | CYS | VAR_015820 |
rs121964990
|
LP/P | - | Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] | |
194_GLY | CYS |
ClinVar chr7:107555951 |
rs121964990
|
Pathogenic | - | Pyruvate dehydrogenase E3 deficiency|not provided|DLD-Related Disorders|Inborn genetic diseases [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765|MedGen:C3661900|MedGen:CN239383|MeSH:D030342,MedGen:C0950123] | |
215_GLY | TER |
ClinVar chr7:107556014 |
rs2032247686
|
Likely pathogenic | - | Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765] | |
220_MET | LEU |
gnomAD chr7:107556029 |
rs533405046
|
- | 0.000294495 | - | |
228_ARG | HIS |
gnomAD chr7:107556054 |
rs145670503
|
- | 0.000816525 | - | |
228_ARG | CYS |
8.3kJPN chr7:107556053 |
rs769218101
|
- | 0.0001 | - | |
228_ARG | HIS |
8.3kJPN chr7:107556054 |
rs145670503
|
- | 0.0001 | - | |
233_GLN | TER |
ClinVar chr7:107556068 |
rs2032249629
|
Likely pathogenic | - | Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765] | |
241_THR | SER |
gnomAD chr7:107556092 |
rs148873419
|
- | 0.00038229 | - | |
242_LYS | TER |
ClinVar chr7:107556095 |
-
|
Likely pathogenic | - | Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765] | |
250_SER | TER |
ClinVar chr7:107556120 |
-
|
Pathogenic | - | Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765] | |
265_LYS | TER |
ClinVar chr7:107557261 |
-
|
Likely pathogenic | - | Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765] | |
267_GLU | TER |
ClinVar chr7:107557267 |
rs2032281944
|
Likely pathogenic | - | Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765] | |
269_ILE | THR |
gnomAD chr7:107557274 |
rs150944645
|
- | 0.000127289 | - | |
277_CYS | TER |
ClinVar chr7:107557299 |
rs2032282970
|
Likely pathogenic | - | Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765] | |
280_ARG | TER |
ClinVar chr7:107557306 |
-
|
Likely pathogenic | - | Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765] | |
280_ARG | GLN |
8.3kJPN chr7:107557307 |
rs371807385
|
- | 0.0002 | - | |
281_ARG | TER |
ClinVar chr7:107557309 |
rs748682601
|
Pathogenic | - | Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765] | |
284_THR | ALA |
8.3kJPN chr7:107557318 |
rs140923543
|
- | 0.0002 | - | |
285_LYS | ASN |
8.3kJPN chr7:107557323 |
-
|
- | 0.0007 | - | |
293_GLY | VAL |
8.3kJPN chr7:107557346 |
-
|
- | 0.0001 | - | |
295_GLU | TER |
ClinVar chr7:107557351 |
-
|
Pathogenic | - | Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765] | |
296_LEU | VAL | VAR_014555 |
rs17624
|
LB/B | - | - | |
311_LYS | TER |
ClinVar chr7:107557399 |
-
|
Likely pathogenic | - | Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765] | |
318_ILE | THR |
ClinVar chr7:107557729 |
rs2116271469
|
Pathogenic/Likely pathogenic | - | Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765] | |
326_MET | VAL | VAR_076987 |
rs121964993
|
LP/P | - | Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] | |
326_MET | VAL |
ClinVar chr7:107557752 |
rs121964993
|
Likely pathogenic | - | Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765] | |
328_ALA | VAL |
8.3kJPN chr7:107557759 |
rs776400068
|
- | 0.0001 | - | |
334_GLU | TER |
ClinVar chr7:107557776 |
rs2032293119
|
Likely pathogenic | - | Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765] | |
338_CYS | TER |
ClinVar chr7:107557790 |
rs2032293586
|
Likely pathogenic | - | Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765] | |
340_GLU | LYS | VAR_076988 |
rs121964992
|
LP/P | - | Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] | |
340_GLU | LYS |
ClinVar chr7:107557794 |
rs121964992
|
Pathogenic/Likely pathogenic | - | Pyruvate dehydrogenase E3 deficiency|not provided|DLD-Related Disorders|Inborn genetic diseases|See cases [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765|MedGen:C3661900|MedGen:CN239383|MeSH:D030342,MedGen:C0950123|] | |
342_MET | ILE |
8.3kJPN chr7:107557802 |
-
|
- | 0.0001 | - | |
351_TYR | TER |
ClinVar chr7:107557829 |
-
|
Pathogenic | - | Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765] | |
358_ILE | THR | VAR_076989 |
rs121964991
|
LP/P | - | Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] | |
358_ILE | THR |
ClinVar chr7:107557849 |
rs121964991
|
Pathogenic | - | Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765] | |
359_TYR | TER |
ClinVar chr7:107557853 |
rs757087726
|
Pathogenic | - | Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765] | |
366_TRP | CYS |
8.3kJPN chr7:107557874 |
-
|
- | 0.0001 | - | |
370_SER | TER |
ClinVar chr7:107557885 |
-
|
Likely pathogenic | - | Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765] | |
370_SER | TER |
ClinVar chr7:107557885 |
-
|
Pathogenic/Likely pathogenic | - | Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765] | |
372_GLU | TER |
ClinVar chr7:107557890 |
-
|
Likely pathogenic | - | Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765] | |
405_LYS | TER |
ClinVar chr7:107558450 |
-
|
Likely pathogenic | - | Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765] | |
430_ASN | ASP |
8.3kJPN chr7:107559473 |
-
|
- | 0.0001 | - | |
431_GLU | TER |
ClinVar chr7:107559476 |
rs2116277809
|
Pathogenic | - | Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765] | |
438_TYR | TER |
8.3kJPN chr7:107559499 |
-
|
- | 0.0001 | - | |
444_ASP | VAL | VAR_076990 |
rs397514649
|
LP/P | - | Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] | |
444_ASP | VAL |
ClinVar chr7:107559516 |
rs397514649
|
Pathogenic/Likely pathogenic | - | Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765] | |
447_ARG | GLY | VAR_076991 |
rs397514650
|
LP/P | - | Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] | |
447_ARG | GLY |
ClinVar chr7:107559524 |
rs397514650
|
Pathogenic | - | Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765] | |
453_PRO | LEU | VAR_006908 |
rs121964988
|
LP/P | - | Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] | |
453_PRO | LEU |
ClinVar chr7:107559543 |
rs121964988
|
Likely pathogenic | - | Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765] | |
460_ARG | GLY | VAR_015821 |
rs121964989
|
LP/P | - | Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] | |
460_ARG | GLY |
ClinVar chr7:107559657 |
rs121964989
|
Likely pathogenic | - | Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765] | |
466_ALA | THR |
8.3kJPN chr7:107559675 |
-
|
- | 0.0001 | - |