PDB ID 1ZY8     CHAIN A
Protein name Dihydrolipoyl dehydrogenase, mitochondrial
Uniprot Accession P09622
The number of similar proteins 14
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  

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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
3_GLN TER ClinVar
chr7:107533717 		rs1057516698
Likely pathogenic - Maple syrup urine disease, type 3 [MedGen:CN043137,OMIM:246900]
9_VAL LEU 8.3kJPN
chr7:107542194 		-
- 0.0002 -
12_ILE THR VAR_076985 rs397514651
Disease - Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
12_ILE THR ClinVar
chr7:107542204 		rs397514651
Pathogenic - Maple syrup urine disease, type 3 [MedGen:CN043137,OMIM:246900]
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]
37_LYS GLU VAR_006907 rs121964987
Disease - Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
37_LYS GLU ClinVar
chr7:107542785 		rs121964987
Pathogenic - Maple syrup urine disease, type 3 [MedGen:CN043137,OMIM:246900]
37_LYS GLU 8.3kJPN
chr7:107542785 		rs121964987
- 0.0001 -
69_LYS THR VAR_031922 rs1130477
Polymorphism - -
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 -
139_ILE THR 8.3kJPN
chr7:107545888 		rs778981396
- 0.0001 -
153_THR ILE 8.3kJPN
chr7:107545930 		-
- 0.0001 -
176_LYS ILE 8.3kJPN
chr7:107546761 		-
- - -
194_GLY CYS VAR_015820 rs121964990
Disease - Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
194_GLY CYS ClinVar
chr7:107555951 		rs121964990
Pathogenic - DLD-Related Disorders [MedGen:CN239383]; Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; Maple syrup urine disease, type 3 [MedGen:CN043137,OMIM:246900]; not provided [MedGen:CN517202]
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 -
241_THR SER gnomAD
chr7:107556092 		rs148873419
- 0.00038229 -
269_ILE THR gnomAD
chr7:107557274 		rs150944645
- 0.000127289 -
280_ARG GLN 8.3kJPN
chr7:107557307 		rs371807385
- 0.0002 -
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 -
296_LEU VAL VAR_014555 rs17624
Polymorphism - -
326_MET VAL VAR_076987 rs121964993
Disease - Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
326_MET VAL ClinVar
chr7:107557752 		rs121964993
Pathogenic - Maple syrup urine disease, type 3 [MedGen:CN043137,OMIM:246900]
328_ALA VAL 8.3kJPN
chr7:107557759 		rs776400068
- 0.0001 -
340_GLU LYS VAR_076988 rs121964992
Disease - Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
340_GLU LYS ClinVar
chr7:107557794 		rs121964992
Pathogenic/Likely pathogenic - Maple syrup urine disease, type 3 [MedGen:CN043137,OMIM:246900]; not provided [MedGen:CN517202]
342_MET ILE 8.3kJPN
chr7:107557802 		-
- 0.0001 -
358_ILE THR VAR_076989 rs121964991
Disease - Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
358_ILE THR ClinVar
chr7:107557849 		rs121964991
Pathogenic - Maple syrup urine disease, type 3 [MedGen:CN043137,OMIM:246900]
366_TRP CYS 8.3kJPN
chr7:107557874 		-
- 0.0001 -
430_ASN ASP 8.3kJPN
chr7:107559473 		-
- 0.0001 -
438_TYR TER 8.3kJPN
chr7:107559499 		-
- 0.0001 -
444_ASP VAL VAR_076990 rs397514649
Disease - Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
444_ASP VAL ClinVar
chr7:107559516 		rs397514649
Pathogenic - Maple syrup urine disease, type 3 [MedGen:CN043137,OMIM:246900]
447_ARG GLY VAR_076991 rs397514650
Disease - Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
447_ARG GLY ClinVar
chr7:107559524 		rs397514650
Pathogenic - Maple syrup urine disease, type 3 [MedGen:CN043137,OMIM:246900]
453_PRO LEU VAR_006908 rs121964988
Disease - Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
453_PRO LEU ClinVar
chr7:107559543 		rs121964988
Pathogenic - Maple syrup urine disease, type 3 [MedGen:CN043137,OMIM:246900]
460_ARG GLY VAR_015821 rs121964989
Disease - Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
460_ARG GLY ClinVar
chr7:107559657 		rs121964989
Pathogenic - Maple syrup urine disease, type 3 [MedGen:CN043137,OMIM:246900]
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.