PDB ID 1AUQ     CHAIN A
Protein name A1 DOMAIN OF VON WILLEBRAND FACTOR
Uniprot Accession P04275
The number of similar proteins 18
The number of binding states 6
The number of binding partners 4

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
1AUQ (CHAIN: A)
1 Monomeric state
2 P07359  
3 7EOW  
4 2134244   2134245  
5 1890294   1890296  
6 P22030   P22029   P07359  

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  3
  2
  1
  0

Sequence information

1   DISEPPLHDF   YCSRLLDLVF   LLDGSSRLSE   AEFEVLKAFV   VDMMERLRIS   50
51   QKWVRVAVVE   YHDGSHAYIG   LKDRKRPSEL   RRIASQVKYA   GSQVASTSEV   100
101   LKYTLFQIFS   KIDRPEASRI   ALLLMASQEP   QRMSRNFVRY   VQGLKKKKVI   150
151   VIPVGIGPHA   NLKQIRLIEK   QAPENKAFVL   SSVDELEQQR   DEIVSYLCDL   200
201   APEAPPPT           250

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
503_PRO LEU VAR_005791 rs61749370
LP/P - Von Willebrand disease 2 (VWD2) [MIM:613554]
503_PRO LEU gnomAD
chr12:6128787 		rs61749370
- 0.000796656 -
503_PRO GLN gnomAD
chr12:6128787 		rs61749370
- 0.000276228 -
503_PRO GLN 8.3kJPN
chr12:6128787 		rs61749370
- 0.001 -
505_HIS ASP VAR_005792 rs61749371
LP/P - Von Willebrand disease 2 (VWD2) [MIM:613554]
505_HIS ASP ClinVar
chr12:6128782 		rs61749371
Likely pathogenic - not provided|von Willebrand disease type 2|Hereditary von Willebrand disease [MedGen:C3661900|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318]
509_CYS ARG VAR_005793 rs61749372
LP/P - Von Willebrand disease 2 (VWD2) [MIM:613554]
509_CYS PHE VAR_067340 rs63524161
LP/P - Von Willebrand disease 2 (VWD2) [MIM:613554]
509_CYS ARG ClinVar
chr12:6128770 		rs61749372
Pathogenic - Von Willebrand disease type 2A|not provided|von Willebrand disease type 2 [MONDO:MONDO:0015628,MedGen:C1282968,Orphanet:166084|MedGen:CN517202|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903]
516_VAL ILE gnomAD
chr12:6128749 		rs61749376
- 0.000294999 -
522_SER PHE ClinVar
chr12:6128730 		rs61749380
Pathogenic - von Willebrand disease type 2M|not provided [MONDO:MONDO:0015630,MedGen:C1282974,Orphanet:166090|MedGen:CN517202]
522_SER PRO ClinVar
chr12:6128731 		rs61749379
Pathogenic - not provided|von Willebrand disease type 2 [MedGen:CN517202|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903]
525_LEU ARG ClinVar
chr12:6128721 		rs267607334
Pathogenic/Likely pathogenic - not provided|Hereditary von Willebrand disease|von Willebrand disease type 1|von Willebrand disease type 2 [MedGen:C3661900|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318|MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903]
527_GLU LYS gnomAD
chr12:6128716 		rs138900040
- 0.000207102 -
530_PHE LEU ClinVar
chr12:6128707 		rs267607335
Pathogenic - not provided|von Willebrand disease type 2 [MedGen:CN517202|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903]
543_ARG TRP VAR_005794 rs61749384
LP/P - Von Willebrand disease 2 (VWD2) [MIM:613554]
543_ARG TRP ClinVar
chr12:6128668 		rs61749384
Pathogenic/Likely pathogenic - Von Willebrand disease type 2B|not provided|Hereditary von Willebrand disease|von Willebrand disease type 2|Abnormality of coagulation [MONDO:MONDO:0015629,MedGen:C1282971,Orphanet:166087|MedGen:C3661900|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903|Human Phenotype Ontology:HP:0001928,MedGen:C1846821]
543_ARG GLN ClinVar
chr12:6128667 		rs61749385
Pathogenic - not provided|von Willebrand disease type 2 [MedGen:C3661900|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903]
543_ARG LEU ClinVar
chr12:6128667 		rs61749385
Pathogenic - not provided|von Willebrand disease type 2|Hereditary von Willebrand disease [MedGen:C3661900|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318]
543_ARG PRO ClinVar
chr12:6128667 		rs61749385
Likely pathogenic - not specified [MedGen:CN169374]
544_LEU PRO ClinVar
chr12:6128664 		rs61749386
Pathogenic - not provided|von Willebrand disease type 2 [MedGen:CN517202|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903]
545_ARG CYS VAR_005795 rs61749387
LP/P - Von Willebrand disease 2 (VWD2) [MIM:613554]
545_ARG CYS ClinVar
chr12:6128662 		rs61749387
Pathogenic - Von Willebrand disease type 2B|not provided|Hereditary von Willebrand disease|von Willebrand disease type 2 [MONDO:MONDO:0015629,MedGen:C1282971,Orphanet:166087|MedGen:C3661900|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903]
545_ARG LEU ClinVar
chr12:6128661 		rs61749388
Likely pathogenic - Hereditary von Willebrand disease|von Willebrand disease type 2 [MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903]
545_ARG HIS 8.3kJPN
chr12:6128661 		rs61749388
- 0.0001 -
546_ILE VAL ClinVar
chr12:6128659 		rs61749389
Pathogenic - not provided|Hereditary von Willebrand disease|von Willebrand disease type 2 [MedGen:C3661900|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903]
546_ILE ASN ClinVar
chr12:6128658 		rs2136413547
Likely pathogenic - Hereditary von Willebrand disease [MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318]
547_SER PRO ClinVar
chr12:6128656 		rs2136413535
Likely pathogenic - von Willebrand disease type 2 [MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903]
548_GLN TER ClinVar
chr12:6128653 		rs267607337
Pathogenic - not provided|Hereditary von Willebrand disease|von Willebrand disease type 3|Thrombocytopenia [MedGen:C3661900|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318|MONDO:MONDO:0010191,MedGen:C1264041,OMIM:277480,Orphanet:166096|Human Phenotype Ontology:HP:0001873,Human Phenotype Ontology:HP:0001906,Human Phenotype Ontology:HP:0004838,Human Phenotype Ontology:HP:0008175,Human Phenotype Ontology:HP:0008268,Human Phenotype Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034]
548_GLN TER 8.3kJPN
chr12:6128653 		rs267607337
- 0.0005 -
550_TRP CYS VAR_005796 rs61749392
LP/P - Von Willebrand disease 2 (VWD2) [MIM:613554]
550_TRP CYS ClinVar
chr12:6128645 		rs61749392
Pathogenic - Von Willebrand disease type 2B|not provided [MONDO:MONDO:0015629,MedGen:C1282971,Orphanet:166087|MedGen:CN517202]
551_VAL LEU VAR_005797 rs61749393
LP/P - Von Willebrand disease 2 (VWD2) [MIM:613554]
551_VAL LEU ClinVar
chr12:6128644 		rs61749393
Pathogenic - Von Willebrand disease type 2B|not provided [MONDO:MONDO:0015629,MedGen:C1282971,Orphanet:166087|MedGen:CN517202]
551_VAL PHE ClinVar
chr12:6128644 		rs61749393
Likely pathogenic - not provided [MedGen:CN517202]
552_ARG CYS ClinVar
chr12:6128641 		rs61749395
Pathogenic/Likely pathogenic - not provided|Hereditary von Willebrand disease|von Willebrand disease type 1|von Willebrand disease type 2|VWF-related condition [MedGen:C3661900|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318|MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903|]
552_ARG LEU ClinVar
chr12:6128640 		rs61749396
Pathogenic - not provided|von Willebrand disease type 2 [MedGen:CN517202|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903]
553_VAL MET VAR_005798 rs61749397
LP/P - Von Willebrand disease 2 (VWD2) [MIM:613554]
553_VAL MET ClinVar
chr12:6128638 		rs61749397
Pathogenic - Von Willebrand disease type 2B|not provided|not specified|Hereditary von Willebrand disease|von Willebrand disease type 2|von Willebrand disease type 1 [MONDO:MONDO:0015629,MedGen:C1282971,Orphanet:166087|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903|MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903]; von Willebrand disease type 3 [MONDO:MONDO:0010191,MedGen:C1264041,OMIM:277480,Orphanet:166096]; von Willebrand disease type 2 [MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903]
555_VAL LEU VAR_005799 rs372028373
LP/P - Von Willebrand disease 2 (VWD2) [MIM:613554]
555_VAL MET 8.3kJPN
chr12:6128632 		rs372028373
- 0.0001 -
558_TYR CYS ClinVar
chr12:6128622 		rs1591863294
Likely pathogenic - von Willebrand disease type 2 [MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903]
561_GLY SER VAR_005800 rs61749398
LP/P - Von Willebrand disease 2 (VWD2) [MIM:613554]
561_GLY SER ClinVar
chr12:6128614 		rs61749398
Pathogenic/Likely pathogenic - von Willebrand disease type 2M|not provided|von Willebrand disease type 2 [MONDO:MONDO:0015630,MedGen:C1282974,Orphanet:166090|MedGen:C3661900|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903]
562_SER PHE ClinVar
chr12:6128610 		-
Likely pathogenic - not provided [MedGen:C3661900]
568_LEU PHE 8.3kJPN
chr12:6128593 		-
- 0.0001 -
571_ARG TRP 8.3kJPN
chr12:6128584 		rs746810319
- 0.0001 -
573_ARG TER ClinVar
chr12:6128578 		rs1565832211
Pathogenic - not provided [MedGen:CN517202]
574_PRO LEU ClinVar
chr12:6128574 		rs61749400
Pathogenic/Likely pathogenic - not provided|von Willebrand disease type 1|von Willebrand disease type 2 [MedGen:C3661900|MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903]
578_ARG GLN VAR_005801 rs61749403
LP/P - Von Willebrand disease 2 (VWD2) [MIM:613554]
578_ARG GLN ClinVar
chr12:6128562 		rs61749403
Pathogenic - Von Willebrand disease type 2B|not provided|von Willebrand disease type 2|VWF-related condition|Hereditary von Willebrand disease [MONDO:MONDO:0015629,MedGen:C1282971,Orphanet:166087|MedGen:C3661900|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903||MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318]
578_ARG TRP ClinVar
chr12:6128563 		rs61749402
Pathogenic/Likely pathogenic - not provided|von Willebrand disease type 2|von Willebrand disease type 1|Hereditary von Willebrand disease [MedGen:C3661900|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903|MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318]
578_ARG PRO ClinVar
chr12:6128562 		rs61749403
Likely pathogenic - not provided|von Willebrand disease type 2 [MedGen:CN517202|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903]
579_ARG CYS gnomAD
chr12:6128560 		rs61749404
- 0.000115683 -
583_GLN TER ClinVar
chr12:6128548 		rs61749405
Pathogenic - not provided|von Willebrand disease type 3 [MedGen:C3661900|MONDO:MONDO:0010191,MedGen:C1264041,OMIM:277480,Orphanet:166096]
596_GLU LYS ClinVar
chr12:6128509 		rs61749407
Pathogenic - not provided|von Willebrand disease type 1 [MedGen:C3661900|MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903]
598_LEU SER ClinVar
chr12:6128502 		rs61749408
Likely pathogenic - not provided|not specified|Hereditary von Willebrand disease [MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318]
601_THR ILE 8.3kJPN
chr12:6128493 		-
- 0.0001 -
603_PHE SER 8.3kJPN
chr12:6128487 		-
- 0.0001 -
606_PHE ILE ClinVar
chr12:6128479 		rs61750069
Pathogenic/Likely pathogenic - not provided|Hereditary von Willebrand disease|von Willebrand disease type 1 [MedGen:C3661900|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318|MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903]
606_PHE LEU ClinVar
chr12:6128479 		rs61750069
Likely pathogenic - Hereditary von Willebrand disease [MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318]
610_ASP ASN 8.3kJPN
chr12:6128467 		rs1332206266
- 0.0001 -
611_ARG CYS VAR_005802 rs61750071
LP/P - Von Willebrand disease 2 (VWD2) [MIM:613554]
611_ARG HIS VAR_005803 rs61750072
LP/P - Von Willebrand disease 2 (VWD2) [MIM:613554]
611_ARG CYS ClinVar
chr12:6128464 		rs61750071
Pathogenic - not provided|Hereditary von Willebrand disease|von Willebrand disease type 2 [MedGen:C3661900|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903]
611_ARG HIS ClinVar
chr12:6128463 		rs61750072
Pathogenic - not provided|Prolonged bleeding time [MedGen:C3661900|Human Phenotype Ontology:HP:0003010,Human Phenotype Ontology:HP:0008294,Human Phenotype Ontology:HP:0008337,MedGen:C0151529]; Abnormal bleeding|Hereditary von Willebrand disease|Von Willebrand disease type 2A [Human Phenotype Ontology:HP:0001892,Human Phenotype Ontology:HP:0004830,Human Phenotype Ontology:HP:0004834,Human Phenotype Ontology:HP:0004849,Human Phenotype Ontology:HP:0004862,Human Phenotype Ontology:HP:0004865,Human Phenotype Ontology:HP:0008183,MedGen:C1458140|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318|MONDO:MONDO:0015628,MedGen:C1282968,Orphanet:166084]; von Willebrand disease type 1 [MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903]; von Willebrand disease type 2M|von Willebrand disease type 2|von Willebrand disease type 1 [MONDO:MONDO:0015630,MedGen:C1282974,Orphanet:166090|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903|MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903]
611_ARG LEU ClinVar
chr12:6128463 		rs61750072
Pathogenic - not provided|von Willebrand disease type 2|Hereditary von Willebrand disease [MedGen:C3661900|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318]
612_PRO SER gnomAD
chr12:6128461 		rs751767496
- 0.000151432 -
614_ALA VAL gnomAD
chr12:6128454 		rs141211612
- 0.000211334 -
616_ARG CYS ClinVar
chr12:6128449 		rs61750074
Pathogenic/Likely pathogenic - not provided|Hereditary von Willebrand disease|von Willebrand disease type 2|von Willebrand disease type 1|VWF-related disorders [MedGen:C3661900|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903|MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903|]
617_ILE VAL gnomAD
chr12:6128446 		rs11063988
- 0.0084994 -
618_THR ALA gnomAD
chr12:6128443 		rs216311
- 0.685662 -
618_THR ALA 8.3kJPN
chr12:6128443 		rs216311
- 0.7222 -
624_SER ILE ClinVar
chr12:6128424 		rs1565832072
Likely pathogenic - not provided [MedGen:CN517202]
632_ARG TRP 8.3kJPN
chr12:6128401 		rs751394243
- 0.0003 -
636_ARG HIS VAR_005805 rs1800382
LB/B - -
636_ARG HIS gnomAD
chr12:6128388 		rs1800382
- 0.00858068 -
638_VAL ILE gnomAD
chr12:6128383 		rs536484748
- 0.000183287 -
638_VAL ILE 8.3kJPN
chr12:6128383 		rs536484748
- 0.0032 -
653_ILE ASN ClinVar
chr12:6128337 		rs61750081
Likely pathogenic - not provided|Hereditary von Willebrand disease|von Willebrand disease type 2 [MedGen:C3661900|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903]
653_ILE THR ClinVar
chr12:6128337 		rs61750081
Pathogenic/Likely pathogenic - not provided|von Willebrand disease type 2|Hereditary von Willebrand disease [MedGen:C3661900|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318]
654_GLY TRP ClinVar
chr12:6128335 		rs2136412846
Likely pathogenic - von Willebrand disease type 2 [MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903]
656_HIS GLN gnomAD
chr12:6128327 		rs569177726
- 0.000159264 -
658_ASN LYS ClinVar
chr12:6128321 		rs61750082
Likely pathogenic - von Willebrand disease type 2 [MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903]
662_ILE PHE ClinVar
chr12:6128311 		rs61750083
Likely pathogenic - not provided|Hereditary von Willebrand disease|von Willebrand disease type 1 [MedGen:C3661900|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318|MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903]; von Willebrand disease type 3 [MONDO:MONDO:0010191,MedGen:C1264041,OMIM:277480,Orphanet:166096]; von Willebrand disease type 2 [MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903]
663_ARG SER ClinVar
chr12:6128308 		rs555366738
Likely pathogenic - Hereditary von Willebrand disease [MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318]
672_ASN SER gnomAD
chr12:6128280 		rs11063987
- 0.00817897 -
674_ALA THR ClinVar
chr12:6128275 		rs61750084
Likely pathogenic - not provided|von Willebrand disease type 2 [MedGen:C3661900|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903]
676_VAL MET gnomAD
chr12:6128269 		rs150077670
- 0.000840209 -
685_GLN TER ClinVar
chr12:6128242 		-
Likely pathogenic - von Willebrand disease type 1 [MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903]
697_LEU VAL VAR_005806 rs61750088
LP/P - Von Willebrand disease 2 (VWD2) [MIM:613554]
697_LEU PHE ClinVar
chr12:6128206 		rs61750088
Likely pathogenic - not provided [MedGen:CN517202]
698_ALA VAL VAR_005807 rs61750089
LP/P - Von Willebrand disease 2 (VWD2) [MIM:613554]
698_ALA VAL ClinVar
chr12:6128202 		rs61750089
Pathogenic - not provided|not specified [MedGen:CN517202|MedGen:CN169374]
698_ALA VAL 8.3kJPN
chr12:6128202 		rs61750089
- 0.0001 -
699_PRO ALA ClinVar
chr12:6128200 		rs61750090
Likely pathogenic - not provided|von Willebrand disease type 2 [MedGen:CN517202|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903]
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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.