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

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
1ZY8 (CHAIN: A)
1 P09622   O00330  
2 P09622  
3 P09622   P11182  
4 P09622   O00330  

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  4
  3
  2
  1
  0

Sequence information

1   ADQPIDADVT   VIGSGPGGYV   AAIKAAQLGF   KTVCIEKNET   LGGTCLNVGC   50
51   IPSKALLNNS   HYYHMAHGKD   FASRGIEMSE   VRLNLDKMME   QKSTAVKALT   100
101   GGIAHLFKQN   KVVHVNGYGK   ITGKNQVTAT   KADGGTQVID   TKNILIATGS   150
151   EVTPFPGITI   DEDTIVSSTG   ALSLKKVPEK   MVVIGAGVIG   VELGSVWQRL   200
201   GADVTAVEFL   GHVGGVGIDM   EISKNFQRIL   QKQGFKFKLN   TKVTGATKKS   250
251   DGKIDVSIEA   ASGGKAEVIT   CDVLLVCIGR   RPFTKNLGLE   ELGIELDPRG   300
301   RIPVNTRFQT   KIPNIYAIGD   VVAGPMLAHK   AEDEGIICVE   GMAGGAVHID   350
351   YNCVPSVIYT   HPEVAWVGKS   EEQLKEEGIE   YKVGKFPFAA   NSRAKTNADT   400
401   DGMVKILGQK   STDRVLGAHI   LGPGAGEMVN   EAALALEYGA   SCEDIARVCH   450
451   AHPTLSEAFR   EANLAASFGK   SINF       500

Variants

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 -
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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

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.