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  

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  3
  2
  1
  0

Sequence information

1   STKVSDSIST   QYPVVDHEFD   AVVVGAGGAG   LRAAFGLSEA   GFNTACVTKL   50
51   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   Y       650

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
9_SER PHE gnomAD
chr5:224479 		rs377470390
- 0.000155275 -
11_GLN TER ClinVar
chr5:224484 		rs1560985916
Pathogenic - Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Paragangliomas 5|not provided [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|MedGen:C3661900]
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 - Paragangliomas 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]
32_ARG TER ClinVar
chr5:224547 		rs781764920
Pathogenic/Likely pathogenic - Paragangliomas 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]; Paragangliomas 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]; Paragangliomas 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]; Dilated cardiomyopathy 1GG|Dilated cardiomyopathy 1GG [MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154]
39_GLU TER ClinVar
chr5:224568 		-
Pathogenic - Paragangliomas 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
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]; Paragangliomas 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]; Paragangliomas 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]; Paragangliomas 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
76_TRP TER ClinVar
chr5:225577 		rs1734957331
Pathogenic - Paragangliomas 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]; Mitochondrial complex II deficiency, nuclear type 1|Gastrointestinal stromal tumor|Hereditary cancer-predisposing syndrome|not provided|Paragangliomas 5 [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|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
109_GLU TER ClinVar
chr5:225675 		rs778737664
Pathogenic - Paragangliomas 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]
113_TYR TER ClinVar
chr5:226009 		rs989318548
Pathogenic - Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Paragangliomas 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
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 - Paragangliomas 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]
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]; Paragangliomas 5|not provided|Dilated cardiomyopathy 1GG [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154]
145_ARG TRP ClinVar
chr5:226103 		rs553257776
Likely pathogenic - Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Paragangliomas 5|Hereditary cancer-predisposing syndrome|Paragangliomas 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]
160_THR ILE 8.3kJPN
chr5:226149 		-
- 0.0001 -
162_TYR TER ClinVar
chr5:226156 		rs876658486
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]; Paragangliomas 5|Paragangliomas 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|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]; Paragangliomas 5|Hereditary cancer-predisposing syndrome|Gastrointestinal stromal tumor|Dilated cardiomyopathy 1GG [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]
168_TYR TER ClinVar
chr5:228311 		rs1307665893
Pathogenic - Hereditary cancer-predisposing syndrome|Paragangliomas 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]
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 		-
Pathogenic - Paragangliomas 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]; Paragangliomas 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]; Paragangliomas 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 		-
Pathogenic - Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
251_GLN TER ClinVar
chr5:231100 		rs1560992565
Pathogenic - Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Paragangliomas 5|Hereditary cancer-predisposing syndrome|Paragangliomas 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]
269_ARG CYS 8.3kJPN
chr5:233630 		-
- 0.0001 -
272_GLY TER ClinVar
chr5:233639 		-
Pathogenic - Paragangliomas 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]
276_ILE LEU gnomAD
chr5:233651 		rs377509915
- 0.00014712 -
281_GLU TER ClinVar
chr5:233666 		-
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]; Paragangliomas 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
286_ARG TER ClinVar
chr5:233681 		rs771328239
Pathogenic - Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Paragangliomas 5|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
286_ARG TER 8.3kJPN
chr5:233681 		rs771328239
- 0.0001 -
287_TYR TER ClinVar
chr5:233686 		-
Pathogenic - Paragangliomas 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]; Paragangliomas 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
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]; Paragangliomas 5|Hereditary cancer-predisposing syndrome|Mitochondrial complex II deficiency, nuclear type 1|Paragangliomas 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 		-
Pathogenic - Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Paragangliomas 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
324_GLN TER ClinVar
chr5:235293 		-
Pathogenic/Likely pathogenic - Dilated cardiomyopathy 1GG|Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Paragangliomas 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
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 - Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Paragangliomas 5|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|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]; Paragangliomas 5|Gastrointestinal stromal tumor|Paragangliomas 5|not provided [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:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|MedGen:C3661900]
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 -
377_GLN TER ClinVar
chr5:235452 		rs1579407009
Pathogenic - Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Paragangliomas 5|Paragangliomas 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 -
410_GLY ARG 8.3kJPN
chr5:236639 		rs770028533
- 0.0001 -
422_ARG GLN 8.3kJPN
chr5:236676 		rs138277996
- 0.0001 -
423_ALA THR gnomAD
chr5:236678 		rs111387770
- 0.000973834 -
429_GLU TER ClinVar
chr5:236696 		-
Pathogenic - Hereditary cancer-predisposing syndrome|Paragangliomas 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]
437_LYS TER ClinVar
chr5:240478 		-
Pathogenic - Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Paragangliomas 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]; Paragangliomas 5|Paragangliomas 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]
465_THR ILE gnomAD
chr5:240563 		rs151266052
- 0.000598879 -
469_ARG TER ClinVar
chr5:240574 		rs748089700
Pathogenic/Likely pathogenic - Paragangliomas 5|Hereditary cancer-predisposing syndrome|not provided|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|MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Paragangliomas 5|Opsoclonus-myoclonus syndrome|Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|MONDO:MONDO:0015247,MedGen:C0393626,Orphanet:1183|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Dilated cardiomyopathy 1GG [MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154]; Paragangliomas 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]; Neurodegeneration with ataxia and late-onset optic atrophy|Dilated cardiomyopathy 1GG [MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154]
477_GLN TER ClinVar
chr5:251113 		rs2126631964
Pathogenic - Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Paragangliomas 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|not provided|Paragangliomas 5 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|MedGen:C3661900|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]; Mitochondrial complex II deficiency, nuclear type 1|Hereditary cancer-predisposing syndrome|Dilated cardiomyopathy 1GG [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154]
493_CYS TER ClinVar
chr5:251163 		-
Pathogenic - Paragangliomas 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]
500_TYR TER ClinVar
chr5:251184 		rs747249998
Pathogenic - Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Paragangliomas 5|Hereditary pheochromocytoma-paraganglioma [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|MONDO:MONDO:0017366,MedGen:C1708353,Orphanet:29072]
500_TYR TER ClinVar
chr5:251184 		-
Pathogenic - Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
511_ARG GLN 8.3kJPN
chr5:251216 		rs376391115
- 0.0003 -
512_GLY GLU ClinVar
chr5:251453 		rs137852768
Pathogenic - Mitochondrial complex II deficiency, nuclear type 1|Dilated cardiomyopathy 1GG|Paragangliomas 5 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|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]
534_GLN TER ClinVar
chr5:251518 		-
Likely pathogenic - not provided [MedGen:C3661900]
536_ILE THR 8.3kJPN
chr5:251525 		rs1323205068
- 0.0002 -
537_TYR TER ClinVar
chr5:251529 		-
Pathogenic - Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
538_GLY ARG ClinVar
chr5:251530 		rs771111180
Likely pathogenic - Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Paragangliomas 5|Hereditary cancer-predisposing syndrome|Gastrointestinal stromal tumor [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]
538_GLY TER ClinVar
chr5:251530 		-
Pathogenic - Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Paragangliomas 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
538_GLY ARG 8.3kJPN
chr5:251530 		rs771111180
- 0.0001 -
546_ARG TRP ClinVar
chr5:251554 		rs387906780
Pathogenic/Likely pathogenic - Paragangliomas 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]; Paragangliomas 5|Hereditary cancer-predisposing syndrome|Gastrointestinal stromal tumor|Dilated cardiomyopathy 1GG|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|MedGen:C3661900]
546_ARG GLN ClinVar
chr5:251555 		rs763766162
Likely pathogenic - Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Paragangliomas 5|Gastrointestinal stromal tumor|Hereditary cancer-predisposing syndrome|Dilated cardiomyopathy 1GG [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|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154]
546_ARG GLY ClinVar
chr5:251554 		rs387906780
Likely pathogenic - Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Paragangliomas 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
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 -
562_ASP ASN 8.3kJPN
chr5:254526 		rs771593214
- 0.0003 -
573_LYS TER ClinVar
chr5:254559 		-
Pathogenic - Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Paragangliomas 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

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