PiSITE

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

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Only interaction residues

#binding
partners

	4
	3
	2
	1
	0

Sequence information

ADQPIDADVT

VIGSGPGGYV

AAIKAAQLGF

KTVCIEKNET

LGGTCLNVGC

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)	AlphaMissense pathogenicity	Disease name
3_GLN	TER	ClinVar chr7:107533717 rs1057516698	Pathogenic	-	-	Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
8_ASP	ASN	ClinVar chr7:107542191 -	Likely pathogenic	-	-	Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
9_VAL	LEU	8.3kJPN chr7:107542194 -	-	0.0002	0.247	-
12_ILE	THR	VAR_076985 rs397514651	LP/P	-	0.8381	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
24_LYS	TER	ClinVar chr7:107542239 rs1361667907	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	-	0.868	not provided [MedGen:C3661900]
27_GLN	ARG	ClinVar chr7:107542249 rs796051948	Likely pathogenic	-	0.8585	not provided [MedGen:CN517202]
27_GLN	TER	ClinVar chr7:107542248 rs1584462024	Pathogenic	-	-	Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
37_LYS	GLU	VAR_006907 rs121964987	LP/P	-	0.6462	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
37_LYS	GLU	ClinVar chr7:107542785 rs121964987	Pathogenic	-	0.6462	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	0.6462	-
52_PRO	SER	ClinVar chr7:107542830 rs925493461	Likely pathogenic	-	-	Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
69_LYS	THR	VAR_031922 rs1130477	LB/B	-	0.1654	-
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	0.1741	-
98_ALA	VAL	8.3kJPN chr7:107545463 -	-	0.0001	0.3153	-
101_GLY	SER	8.3kJPN chr7:107545471 rs369005899	-	0.0002	0.1242	-
105_HIS	GLN	8.3kJPN chr7:107545485 rs1232349000	-	0.0002	0.4086	-
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	0.727	-
142_LYS	TER	ClinVar chr7:107545896 rs2031982524	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	0.3259	-
162_GLU	TER	ClinVar chr7:107546718 -	Likely pathogenic	-	-	Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
176_LYS	ILE	8.3kJPN chr7:107546761 -	-	-	0.3874	-
194_GLY	CYS	VAR_015820 rs121964990	LP/P	-	0.9217	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
194_GLY	CYS	ClinVar chr7:107555951 rs121964990	Pathogenic	-	0.9217	Pyruvate dehydrogenase E3 deficiency\|not provided\|Inborn genetic diseases\|DLD-related disorder\|Thyroid cancer, nonmedullary, 1 [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|\|MedGen:C4721429]
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	0.0986	-
228_ARG	HIS	gnomAD chr7:107556054 rs145670503	-	0.000816525	0.4251	-
228_ARG	CYS	8.3kJPN chr7:107556053 rs769218101	-	0.0001	0.6432	-
228_ARG	HIS	8.3kJPN chr7:107556054 rs145670503	-	0.0001	0.4251	-
231_GLN	TER	ClinVar chr7:107556062 -	Likely pathogenic	-	-	Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
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	0.1503	-
242_LYS	TER	ClinVar chr7:107556095 rs2535598841	Likely pathogenic	-	-	Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
250_SER	TER	ClinVar chr7:107556120 rs2535598922	Pathogenic	-	-	Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
265_LYS	TER	ClinVar chr7:107557261 rs2535601005	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	0.5156	-
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 rs781776246	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	0.9806	-
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	0.4136	-
285_LYS	ASN	8.3kJPN chr7:107557323 -	-	0.0007	0.2119	-
293_GLY	VAL	8.3kJPN chr7:107557346 -	-	0.0001	0.6785	-
295_GLU	TER	ClinVar chr7:107557351 rs2535601329	Pathogenic	-	-	Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
296_LEU	VAL	VAR_014555 rs17624	LB/B	-	0.0926	-
311_LYS	TER	ClinVar chr7:107557399 rs952647277	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	-	0.6669	Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
326_MET	VAL	VAR_076987 rs121964993	LP/P	-	0.7791	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
326_MET	VAL	ClinVar chr7:107557752 rs121964993	Likely pathogenic	-	0.7791	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	0.9956	-
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	-	0.9156	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
340_GLU	LYS	ClinVar chr7:107557794 rs121964992	Pathogenic/Likely pathogenic	-	0.9156	Pyruvate dehydrogenase E3 deficiency\|not provided\|Inborn genetic diseases\|See cases\|DLD-related disorder [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|\|]
342_MET	ILE	8.3kJPN chr7:107557802 -	-	0.0001	0.3975	-
351_TYR	TER	ClinVar chr7:107557829 rs2535602518	Pathogenic	-	-	Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
358_ILE	THR	VAR_076989 rs121964991	LP/P	-	0.9388	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
358_ILE	THR	ClinVar chr7:107557849 rs121964991	Pathogenic/Likely pathogenic	-	0.9388	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	0.864	-
370_SER	TER	ClinVar chr7:107557885 rs1267571380	Likely pathogenic	-	-	Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
370_SER	TER	ClinVar chr7:107557885 rs1267571380	Pathogenic/Likely pathogenic	-	-	Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
372_GLU	TER	ClinVar chr7:107557890 rs2535602750	Likely pathogenic	-	-	Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
405_LYS	TER	ClinVar chr7:107558450 rs2535603950	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	0.7505	-
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	-	0.9916	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
444_ASP	VAL	ClinVar chr7:107559516 rs397514649	Pathogenic/Likely pathogenic	-	0.9916	Pyruvate dehydrogenase E3 deficiency\|Lactic acidosis [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765\|Human Phenotype Ontology:HP:0003128,Human Phenotype Ontology:HP:0003255,Human Phenotype Ontology:HP:0005960,MONDO:MONDO:0006040,MedGen:C0001125]
447_ARG	GLY	VAR_076991 rs397514650	LP/P	-	0.9206	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
447_ARG	GLY	ClinVar chr7:107559524 rs397514650	Pathogenic	-	0.9206	Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
453_PRO	LEU	VAR_006908 rs121964988	LP/P	-	0.995	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
453_PRO	LEU	ClinVar chr7:107559543 rs121964988	Likely pathogenic	-	0.995	Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
460_ARG	GLY	VAR_015821 rs121964989	LP/P	-	0.9426	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
460_ARG	GLY	ClinVar chr7:107559657 rs121964989	Likely pathogenic	-	0.9426	Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
466_ALA	THR	8.3kJPN chr7:107559675 -	-	0.0001	0.2773	-

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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

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Sequence information

Binding partner information

Binding partner information

Binding partner information

Binding partner information

Variants

Reference

	P09622	Dihydrolipoyl dehydrogenase, mitochondrial
	O00330	Pyruvate dehydrogenase protein X component, mitochondrial

	P09622	Dihydrolipoyl dehydrogenase, mitochondrial
	P11182	Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial

	P09622	Dihydrolipoyl dehydrogenase
	O00330	Pyruvate dehydrogenase protein X component