PiSITE

PDB ID	1YQ3	CHAIN	A
Protein name	Succinate dehydrogenase flavoprotein subunit
Uniprot Accession	Q9YHT1
The number of similar proteins	39
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
	1YQ3 (CHAIN: A)
1	1YQ4 3851612
2	Q9NX18
3	Q5VUM1
4	Q5VUM1 Q9NX18

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Molecule viewer

Only interaction residues

#binding
partners

	3
	2
	1
	0

Sequence information

STKVSDSIST

QYPVVDHEFD

AVVVGAGGAG

LRAAFGLSEA

GFNTACVTKL

FPTRSHTVAA

QGGINAALGN

MEDDNWRWHF

YDTVKGSDWL

GDQDAIHYMT

100

101

EQAPAAVIEL

ENYGMPFSRT

EEGKIYQRAF

GGQSLQFGKG

GQAHRCCCVA

150

151

DRTGHSLLHT

LYGRSLRYDT

SYFVEYFALD

LLMENGECRG

VIALCIEDGT

200

201

IHRFRAKNTV

IATGGYGRTY

FSCTSAHTST

GDGTAMVTRA

GLPCQDLEFV

250

251

QFHPTGIYGA

GCLITEGCRG

EGGILINSQG

ERFMERYAPV

AKDLASRDVV

300

301

SRSMTIEIRE

GRGCGPEKDH

VYLQLHHLPP

QQLATRLPGI

SETAMIFAGV

350

351

DVTKEPIPVL

PTVHYNMGGI

PTNYKGQVIT

HVNGEDKVVP

GLYACGEAAS

400

401

ASVHGANRLG

ANSLLDLVVF

GRACALTIAE

TCKPGEPVPS

IKPNAGEESV

450

451

ANLDKLRFAD

GTIRTSEARL

NMQKTMQSHA

AVFRTGSILQ

EGCEKLSQIY

500

501

RDLAHLKTFD

RGIVWNTDLV

ETLELQNLML

CALQTIYGAE

ARKESRGAHA

550

551

REDYKLRIDE

FDYSKPLQGQ

QKRPFEEHWR

KHTLSYVDVK

SGKVTLKYRP

600

601

VIDRTLNEED

CSSVPPAIRS

650

Variants

Residue	AA	Source / dbSNP	Clinical Significance	Allele Frequency (> 0.0001)	AlphaMissense pathogenicity	Disease name
9_SER	PHE	gnomAD chr5:224479 rs377470390	-	0.000155275	-	-
11_GLN	TER	ClinVar chr5:224484 rs1560985916	Pathogenic	-	-	Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]; Mitochondrial complex II deficiency, nuclear type 1\|not provided\|Hereditary cancer-predisposing syndrome\|Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162\|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
12_TYR	HIS	gnomAD chr5:224487 rs142926807	-	0.00154871	-	-
12_TYR	HIS	8.3kJPN chr5:224487 rs142926807	-	0.0254	-	-
18_GLU	TER	ClinVar chr5:224505 rs1734884330	Pathogenic	-	-	Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
32_ARG	TER	ClinVar chr5:224547 rs781764920	Pathogenic/Likely pathogenic	-	-	Pheochromocytoma/paraganglioma syndrome 5\|not provided\|Hereditary cancer-predisposing syndrome\|Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162\|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Pheochromocytoma/paraganglioma syndrome 5\|Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072\|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Neurodegeneration with ataxia and late-onset optic atrophy [MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259]; Dilated cardiomyopathy 1GG [MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154]; Pheochromocytoma/paraganglioma syndrome 5\|Dilated cardiomyopathy 1GG [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072\|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154]
39_GLU	TER	ClinVar chr5:224568 rs2477286479	Pathogenic	-	-	Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
40_ALA	VAL	ClinVar chr5:224572 -	Likely pathogenic	-	-	not provided [MedGen:C3661900]
46_CYS	TER	ClinVar chr5:224591 rs1579381753	Pathogenic	-	-	Hereditary cancer-predisposing syndrome\|Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162\|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
48_THR	ALA	8.3kJPN chr5:224595 -	-	0.0001	-	-
52_PRO	ARG	ClinVar chr5:224608 rs1553997377	Likely pathogenic	-	-	Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Pheochromocytoma/paraganglioma syndrome 5\|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
56_HIS	TYR	ClinVar chr5:224619 rs786205145	Likely pathogenic	-	-	Carney triad [MONDO:MONDO:0011424,MedGen:C1858592,OMIM:604287,Orphanet:139411]
57_THR	ALA	8.3kJPN chr5:224622 rs1304729997	-	0.0001	-	-
61_GLN	TER	ClinVar chr5:224634 rs1423978863	Pathogenic	-	-	Hereditary cancer-predisposing syndrome\|Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162\|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Pheochromocytoma/paraganglioma syndrome 5\|Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072\|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
72_GLU	TER	ClinVar chr5:225564 -	Pathogenic	-	-	Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
76_TRP	TER	ClinVar chr5:225577 rs1734957331	Pathogenic	-	-	Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Pheochromocytoma/paraganglioma syndrome 5\|Gastrointestinal stromal tumor\|Hereditary cancer-predisposing syndrome\|not provided\|Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
78_TRP	TER	ClinVar chr5:225583 -	Likely pathogenic	-	-	Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
81_TYR	TER	ClinVar chr5:225593 -	Pathogenic	-	-	Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
102_GLN	TER	ClinVar chr5:225654 -	Pathogenic	-	-	Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]; Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]
109_GLU	TER	ClinVar chr5:225675 rs778737664	Pathogenic/Likely pathogenic	-	-	Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Pheochromocytoma/paraganglioma syndrome 5\|Hereditary cancer-predisposing syndrome\|Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162\|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
113_TYR	TER	ClinVar chr5:226009 rs989318548	Pathogenic	-	-	Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]; Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]
119_ARG	TER	ClinVar chr5:226025 rs1579385526	Pathogenic	-	-	Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
127_GLN	TER	ClinVar chr5:226049 rs1579385645	Pathogenic	-	-	Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
133_GLN	TER	ClinVar chr5:226067 rs2126549741	Pathogenic	-	-	Gastrointestinal stromal tumor\|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
141_GLY	ARG	gnomAD chr5:226091 rs148246073	-	0.00155475	-	-
141_GLY	ARG	8.3kJPN chr5:226091 rs148246073	-	0.0215	-	-
142_GLN	TER	ClinVar chr5:226094 rs775827529	Pathogenic	-	-	Hereditary cancer-predisposing syndrome\|Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162\|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Pheochromocytoma/paraganglioma syndrome 5\|Dilated cardiomyopathy 1GG\|not provided\|Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072\|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154\|MedGen:C3661900\|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
146_CYS	TER	ClinVar chr5:226108 -	Pathogenic	-	-	Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]; Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]
160_THR	ILE	8.3kJPN chr5:226149 -	-	0.0001	-	-
162_TYR	TER	ClinVar chr5:226156 rs876658486	Pathogenic	-	-	Hereditary cancer-predisposing syndrome\|Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162\|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]; Mitochondrial complex II deficiency, nuclear type 1\|Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208\|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
167_ARG	TER	ClinVar chr5:228306 rs775143272	Pathogenic/Likely pathogenic	-	-	Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Pheochromocytoma/paraganglioma syndrome 5\|Hereditary cancer-predisposing syndrome\|Gastrointestinal stromal tumor\|Dilated cardiomyopathy 1GG\|Pheochromocytoma/paraganglioma syndrome 5\|not provided [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890\|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154\|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072\|MedGen:C3661900]
168_TYR	TER	ClinVar chr5:228311 rs1307665893	Pathogenic	-	-	Hereditary cancer-predisposing syndrome\|Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162\|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
193_ALA	THR	8.3kJPN chr5:228384 rs774160524	-	0.001	-	-
204_ILE	VAL	gnomAD chr5:228417 rs571292356	-	0.000131375	-	-
204_ILE	VAL	8.3kJPN chr5:228417 rs571292356	-	0.0001	-	-
216_TYR	TER	ClinVar chr5:230997 rs140243793	Pathogenic	-	-	Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
217_GLY	ARG	ClinVar chr5:230998 rs940845256	Pathogenic/Likely pathogenic	-	-	Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Pheochromocytoma/paraganglioma syndrome 5\|Hereditary cancer-predisposing syndrome\|not provided\|Dilated cardiomyopathy 1GG [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154]
217_GLY	ARG	ClinVar chr5:230998 rs940845256	Pathogenic/Likely pathogenic	-	-	Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Pheochromocytoma/paraganglioma syndrome 5\|Neurodegeneration with ataxia and late-onset optic atrophy\|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072\|MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
233_GLY	SER	8.3kJPN chr5:231046 rs751008647	-	0.0001	-	-
238_THR	ILE	8.3kJPN chr5:231062 -	-	0.0001	-	-
245_GLN	TER	ClinVar chr5:231082 rs2126568596	Pathogenic	-	-	Hereditary cancer-predisposing syndrome\|Pheochromocytoma/paraganglioma syndrome 5\|Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162\|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072\|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
251_GLN	TER	ClinVar chr5:231100 rs1560992565	Pathogenic	-	-	Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]; Mitochondrial complex II deficiency, nuclear type 1\|Hereditary cancer-predisposing syndrome\|Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162\|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
269_ARG	CYS	8.3kJPN chr5:233630 -	-	0.0001	-	-
272_GLY	TER	ClinVar chr5:233639 rs2477348907	Pathogenic	-	-	Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
276_ILE	LEU	gnomAD chr5:233651 rs377509915	-	0.00014712	-	-
279_GLN	TER	ClinVar chr5:233660 -	Likely pathogenic	-	-	Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
281_GLU	TER	ClinVar chr5:233666 rs147014102	Pathogenic	-	-	Hereditary cancer-predisposing syndrome\|Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162\|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]; Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]
285_GLU	TER	ClinVar chr5:233678 -	Pathogenic	-	-	Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
286_ARG	TER	ClinVar chr5:233681 rs771328239	Pathogenic	-	-	Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Pheochromocytoma/paraganglioma syndrome 5\|Hereditary cancer-predisposing syndrome\|Pheochromocytoma/paraganglioma syndrome 5\|Dilated cardiomyopathy 1GG [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162\|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072\|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154]
286_ARG	TER	8.3kJPN chr5:233681 rs771328239	-	0.0001	-	-
287_TYR	TER	ClinVar chr5:233686 rs370547766	Pathogenic	-	-	Pheochromocytoma/paraganglioma syndrome 5\|Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072\|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]; Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]
288_ALA	THR	gnomAD chr5:233687 rs200526913	-	0.000178931	-	-
291_ALA	THR	8.3kJPN chr5:233696 rs1401459296	-	0.0001	-	-
309_ARG	TER	ClinVar chr5:233750 rs746165168	Pathogenic	-	-	Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Pheochromocytoma/paraganglioma syndrome 5\|Hereditary cancer-predisposing syndrome\|Mitochondrial complex II deficiency, nuclear type 1\|Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162\|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208\|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
312_ARG	TER	ClinVar chr5:233759 rs2477351091	Pathogenic	-	-	Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
324_GLN	TER	ClinVar chr5:235293 rs780941330	Pathogenic/Likely pathogenic	-	-	Dilated cardiomyopathy 1GG\|Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154\|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]; Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]
324_GLN	PRO	8.3kJPN chr5:235294 -	-	0.0004	-	-
330_PRO	ALA	8.3kJPN chr5:235311 -	-	0.0001	-	-
332_GLN	TER	ClinVar chr5:235317 rs1735691933	Pathogenic	-	-	Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]; Mitochondrial complex II deficiency, nuclear type 1\|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
341_SER	TER	ClinVar chr5:235345 rs151170408	Pathogenic	-	-	Hereditary cancer-predisposing syndrome\|Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162\|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Pheochromocytoma/paraganglioma syndrome 5\|Gastrointestinal stromal tumor\|not provided\|Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890\|MedGen:C3661900\|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
343_THR	ILE	8.3kJPN chr5:235351 rs773218958	-	0.0004	-	-
354_LYS	ARG	8.3kJPN chr5:235384 rs745798689	-	0.0001	-	-
369_GLY	SER	8.3kJPN chr5:235428 rs768055345	-	0.0001	-	-
372_THR	ILE	ClinVar chr5:235438 -	Likely pathogenic	-	-	Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]
377_GLN	TER	ClinVar chr5:235452 rs1579407009	Pathogenic	-	-	Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Pheochromocytoma/paraganglioma syndrome 5\|Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072\|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
378_VAL	ASP	8.3kJPN chr5:236544 -	-	0.0001	-	-
393_TYR	TER	ClinVar chr5:236590 -	Pathogenic	-	-	Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
396_GLY	GLU	ClinVar chr5:236598 rs374086655	Likely pathogenic	-	-	Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]; Mitochondrial complex II deficiency, nuclear type 1\|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
410_GLY	ARG	8.3kJPN chr5:236639 rs770028533	-	0.0001	-	-
413_SER	TER	ClinVar chr5:236649 rs76896145	Pathogenic	-	-	Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
415_LEU	TER	ClinVar chr5:236655 rs2477376256	Pathogenic	-	-	Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
422_ARG	GLN	8.3kJPN chr5:236676 rs138277996	-	0.0001	-	-
423_ALA	THR	gnomAD chr5:236678 rs111387770	-	0.000973834	-	-
424_CYS	TER	ClinVar chr5:236683 -	Pathogenic	-	-	Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
429_GLU	TER	ClinVar chr5:236696 rs143798161	Pathogenic	-	-	Hereditary cancer-predisposing syndrome\|Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162\|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
437_LYS	TER	ClinVar chr5:240478 rs1579417444	Pathogenic	-	-	Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
447_GLU	TER	ClinVar chr5:240508 rs1554000360	Pathogenic/Likely pathogenic	-	-	Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Pheochromocytoma/paraganglioma syndrome 5\|Pheochromocytoma/paraganglioma syndrome 5\|Hereditary cancer-predisposing syndrome\|not provided\|Dilated cardiomyopathy 1GG [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072\|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154]
448_GLU	TER	ClinVar chr5:240511 rs778207102	Pathogenic/Likely pathogenic	-	-	Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]; Mitochondrial complex II deficiency, nuclear type 1\|Hereditary cancer-predisposing syndrome\|SDHA-related disorder\|not provided\|Neurodegeneration with ataxia and late-onset optic atrophy\|Dilated cardiomyopathy 1GG\|Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162\|\|MedGen:C3661900\|MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259\|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154\|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
456_LEU	TER	ClinVar chr5:240536 -	Pathogenic	-	-	Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
465_THR	ILE	gnomAD chr5:240563 rs151266052	-	0.000598879	-	-
469_ARG	TER	ClinVar chr5:240574 rs748089700	Pathogenic/Likely pathogenic	-	-	Pheochromocytoma/paraganglioma syndrome 5\|not provided\|Hereditary cancer-predisposing syndrome\|Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162\|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]; Mitochondrial complex II deficiency, nuclear type 1\|Opsoclonus-myoclonus syndrome\|Dilated cardiomyopathy 1GG [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208\|MONDO:MONDO:0015247,MedGen:C0393626,Orphanet:1183\|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154]; Neurodegeneration with ataxia and late-onset optic atrophy [MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259]; Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]; Mitochondrial complex II deficiency, nuclear type 1\|Dilated cardiomyopathy 1GG\|Hereditary pheochromocytoma and paraganglioma [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208\|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154\|MONDO:MONDO:0017366,MedGen:C4274332,OMIM:PS168000,Orphanet:29072]
477_GLN	TER	ClinVar chr5:251113 rs2126631964	Pathogenic	-	-	Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
481_ALA	VAL	ClinVar chr5:251126 rs137852767	Pathogenic/Likely pathogenic	-	-	Mitochondrial complex II deficiency, nuclear type 1\|Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208\|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]; Mitochondrial complex II deficiency, nuclear type 1\|not provided\|Hereditary cancer-predisposing syndrome\|Dilated cardiomyopathy 1GG [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162\|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154]
493_CYS	TER	ClinVar chr5:251163 rs2477454907	Pathogenic	-	-	Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
500_TYR	TER	ClinVar chr5:251184 rs747249998	Pathogenic	-	-	Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]; Mitochondrial complex II deficiency, nuclear type 1\|Hereditary pheochromocytoma and paraganglioma\|Hereditary cancer-predisposing syndrome\|Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208\|MONDO:MONDO:0017366,MedGen:C4274332,OMIM:PS168000,Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162\|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
500_TYR	TER	ClinVar chr5:251184 rs747249998	Pathogenic	-	-	Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
507_LYS	TER	ClinVar chr5:251203 -	Pathogenic	-	-	Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]; Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]
511_ARG	TRP	ClinVar chr5:251215 rs9809219	Likely pathogenic	-	-	Mitochondrial complex II deficiency, nuclear type 1\|Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208\|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]; Mitochondrial complex II deficiency, nuclear type 1\|Hereditary cancer-predisposing syndrome\|Leigh syndrome\|not provided\|Diffuse midline glioma, H3 K27-altered\|Dilated cardiomyopathy 1GG\|Neurodegeneration with ataxia and late-onset optic atrophy [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162\|MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506\|MedGen:C3661900\|MONDO:MONDO:1060171,MedGen:C5669877\|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154\|MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259]; Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]; Dilated cardiomyopathy 1GG [MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154]; Mitochondrial complex II deficiency, nuclear type 1\|SDHA-related disorder\|Pheochromocytoma/paraganglioma syndrome 5\|Cardiac arrhythmia [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208\|\|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072\|EFO: The Experimental Factor Ontology:EFO_0004269,Human Phenotype Ontology:HP:0001656,Human Phenotype Ontology:HP:0001661,Human Phenotype Ontology:HP:0001665,Human Phenotype Ontology:HP:0001666,Human Phenotype Ontology:HP:0001687,Human Phenotype Ontology:HP:0001721,Human Phenotype Ontology:HP:0004351,Human Phenotype Ontology:HP:0005158,Human Phenotype Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811]
511_ARG	GLN	8.3kJPN chr5:251216 rs376391115	-	0.0003	-	-
512_GLY	GLU	ClinVar chr5:251453 rs137852768	Pathogenic	-	-	Dilated cardiomyopathy 1GG\|Mitochondrial complex II deficiency, nuclear type 1\|Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154\|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208\|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]; Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]
512_GLY	TER	ClinVar chr5:251218 rs1392860800	Pathogenic	-	-	Pheochromocytoma/paraganglioma syndrome 5\|Lung cancer\|Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072\|MedGen:C0242379\|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
534_GLN	TER	ClinVar chr5:251518 rs2126633433	Likely pathogenic	-	-	not provided [MedGen:C3661900]
536_ILE	THR	8.3kJPN chr5:251525 rs1323205068	-	0.0002	-	-
537_TYR	TER	ClinVar chr5:251529 rs3181540	Pathogenic	-	-	Hereditary cancer-predisposing syndrome\|Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162\|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
538_GLY	TER	ClinVar chr5:251530 rs771111180	Pathogenic	-	-	Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]; Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]
538_GLY	ARG	8.3kJPN chr5:251530 rs771111180	-	0.0001	-	-
542_ARG	TRP	ClinVar chr5:251542 rs200397144	Pathogenic/Likely pathogenic	-	-	Pheochromocytoma/paraganglioma syndrome 5\|Hereditary cancer-predisposing syndrome\|Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162\|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Pheochromocytoma/paraganglioma syndrome 5\|not provided\|Leigh syndrome [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072\|MedGen:C3661900\|MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506]; Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]; Dilated cardiomyopathy 1GG\|Neurodegeneration with ataxia and late-onset optic atrophy\|Dilated cardiomyopathy 1GG\|Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154\|MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259\|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154\|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]; Dilated cardiomyopathy 1GG [MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154]; Neurodegeneration with ataxia and late-onset optic atrophy [MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259]
542_ARG	GLN	ClinVar chr5:251543 rs752360961	Pathogenic/Likely pathogenic	-	-	Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Pheochromocytoma/paraganglioma syndrome 5\|Pheochromocytoma/paraganglioma syndrome 5\|Hereditary cancer-predisposing syndrome\|Gastrointestinal stromal tumor\|Dilated cardiomyopathy 1GG\|Pheochromocytoma/paraganglioma syndrome 1\|not provided [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072\|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890\|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154\|MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000,Orphanet:29072\|MedGen:C3661900]
546_ARG	TRP	ClinVar chr5:251554 rs387906780	Pathogenic/Likely pathogenic	-	-	Pheochromocytoma/paraganglioma syndrome 5\|Hereditary cancer-predisposing syndrome\|Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162\|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]; Mitochondrial complex II deficiency, nuclear type 1\|Gastrointestinal stromal tumor\|not provided\|Dilated cardiomyopathy 1GG [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890\|MedGen:C3661900\|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154]
546_ARG	GLY	ClinVar chr5:251554 rs387906780	Likely pathogenic	-	-	Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]; Mitochondrial complex II deficiency, nuclear type 1\|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
548_ALA	THR	8.3kJPN chr5:251560 rs1042170	-	0.0001	-	-
548_ALA	VAL	8.3kJPN chr5:251561 rs367621815	-	0.0001	-	-
557_ARG	TRP	8.3kJPN chr5:254511 rs878854630	-	0.0001	-	-
557_ARG	GLN	8.3kJPN chr5:254512 rs1126568	-	0.0001	-	-
561_TYR	TER	ClinVar chr5:254525 -	Pathogenic	-	-	Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
562_ASP	ASN	8.3kJPN chr5:254526 rs771593214	-	0.0003	-	-
568_GLN	TER	ClinVar chr5:254544 rs1579445044	Pathogenic	-	-	Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
573_LYS	TER	ClinVar chr5:254559 rs1453752069	Pathogenic	-	-	Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Pheochromocytoma/paraganglioma syndrome 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
586_TYR	PHE	gnomAD chr5:254599 rs6960	-	0.142969	-	-
586_TYR	PHE	8.3kJPN chr5:254599 rs6960	-	0.0371	-	-
588_ASP	ASN	8.3kJPN chr5:254604 -	-	0.0001	-	-
589_VAL	ILE	8.3kJPN chr5:254607 rs369639811	-	0.0001	-	-
597_GLU	GLY	gnomAD chr5:256459 rs372480044	-	0.000107498	-	-
603_ASP	ASN	8.3kJPN chr5:256476 rs376986935	-	0.0001	-	-
605_THR	PRO	8.3kJPN chr5:256482 rs758054627	-	0.0004	-	-
614_VAL	ILE	gnomAD chr5:256509 rs6962	-	0.131356	-	-
614_VAL	ILE	8.3kJPN chr5:256509 rs6962	-	0.0373	-	-
617_ALA	GLY	gnomAD chr5:256519 rs191412461	-	0.000123417	-	-

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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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Variants

Reference

	1YQ4	SUCCINATE DEHYDROGENASE CYTOCHROME B, LARGE SUBUNIT
	3851612	succinate dehydrogenase Ip subunit

	Q5VUM1	Succinate dehydrogenase assembly factor 4, mitochondrial
	Q9NX18	Succinate dehydrogenase assembly factor 2, mitochondrial