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
Downdload
 Format:  
Molecule viewer
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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
Disease name
3_GLN TER ClinVar
chr7:107533717
rs1057516698 Likely pathogenic Maple syrup urine disease, type 3 [MedGen:CN043137,OMIM: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 ClinVar
chr7:107542785
rs121964987 Pathogenic Maple syrup urine disease, type 3 [MedGen:CN043137,OMIM:246900]
69_LYS THR VAR_031922 rs1130477 Polymorphism -
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]
296_LEU VAL VAR_014555 rs17624 Polymorphism -
326_MET VAL ClinVar
chr7:107557752
rs121964993 Pathogenic Maple syrup urine disease, type 3 [MedGen:CN043137,OMIM: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]
358_ILE THR ClinVar
chr7:107557849
rs121964991 Pathogenic Maple syrup urine disease, type 3 [MedGen:CN043137,OMIM:246900]
444_ASP VAL ClinVar
chr7:107559516
rs397514649 Pathogenic Maple syrup urine disease, type 3 [MedGen:CN043137,OMIM:246900]
447_ARG GLY ClinVar
chr7:107559524
rs397514650 Pathogenic Maple syrup urine disease, type 3 [MedGen:CN043137,OMIM:246900]
453_PRO LEU ClinVar
chr7:107559543
rs121964988 Pathogenic Maple syrup urine disease, type 3 [MedGen:CN043137,OMIM:246900]
460_ARG GLY ClinVar
chr7:107559657
rs121964989 Pathogenic Maple syrup urine disease, type 3 [MedGen:CN043137,OMIM:246900]