PDB ID 1AUQ     CHAIN A
Protein name A1 DOMAIN OF VON WILLEBRAND FACTOR
Uniprot Accession P04275
The number of similar proteins 15
The number of binding states 5
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 2134245   2134244  
4 1890296   1890294  
5 P22029   P22030   P07359  

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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
Disease - Von Willebrand disease 2 (VWD2) [MIM:613554]
503_PRO GLN ClinVar
chr12:6128787 		rs61749370
Pathogenic - not provided [MedGen:CN517202]; von Willebrand disorder [MedGen:C0042974,Orphanet:ORPHA903,SNOMED CT:128105004]
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
Disease - Von Willebrand disease 2 (VWD2) [MIM:613554]
509_CYS ARG VAR_005793 rs61749372
Disease - Von Willebrand disease 2 (VWD2) [MIM:613554]
509_CYS PHE VAR_067340 rs63524161
Disease - Von Willebrand disease 2 (VWD2) [MIM:613554]
509_CYS ARG ClinVar
chr12:6128770 		rs61749372
Pathogenic - not provided [MedGen:CN517202]; von Willebrand disease, type 2a [MedGen:C1282968,Orphanet:ORPHA166084]
516_VAL ILE gnomAD
chr12:6128749 		rs61749376
- 0.000294999 -
522_SER PHE ClinVar
chr12:6128730 		rs61749380
Pathogenic - not provided [MedGen:CN517202]; von Willebrand disease type 2M [MedGen:C1282974,Orphanet:ORPHA166090,SNOMED CT:359729006]
527_GLU LYS gnomAD
chr12:6128716 		rs138900040
- 0.000207102 -
543_ARG TRP VAR_005794 rs61749384
Disease - Von Willebrand disease 2 (VWD2) [MIM:613554]
543_ARG TRP ClinVar
chr12:6128668 		rs61749384
Pathogenic - not provided [MedGen:CN517202]; von Willebrand disease, type 2b [MedGen:C1282971,Orphanet:ORPHA166087]
543_ARG GLN ClinVar
chr12:6128667 		rs61749385
Pathogenic - not provided [MedGen:CN517202]
545_ARG CYS VAR_005795 rs61749387
Disease - Von Willebrand disease 2 (VWD2) [MIM:613554]
545_ARG CYS ClinVar
chr12:6128662 		rs61749387
Pathogenic - not provided [MedGen:CN517202]; von Willebrand disease, type 2b [MedGen:C1282971,Orphanet:ORPHA166087]
545_ARG HIS 8.3kJPN
chr12:6128661 		rs61749388
- 0.0001 -
546_ILE VAL ClinVar
chr12:6128659 		rs61749389
Pathogenic - not provided [MedGen:CN517202]; von Willebrand disorder [MedGen:C0042974,Orphanet:ORPHA903,SNOMED CT:128105004]
548_GLN TER 8.3kJPN
chr12:6128653 		rs267607337
- 0.0005 -
550_TRP CYS VAR_005796 rs61749392
Disease - Von Willebrand disease 2 (VWD2) [MIM:613554]
550_TRP CYS ClinVar
chr12:6128645 		rs61749392
Pathogenic - not provided [MedGen:CN517202]; von Willebrand disease, type 2b [MedGen:C1282971,Orphanet:ORPHA166087]
551_VAL LEU VAR_005797 rs61749393
Disease - Von Willebrand disease 2 (VWD2) [MIM:613554]
551_VAL LEU ClinVar
chr12:6128644 		rs61749393
Pathogenic - not provided [MedGen:CN517202]; von Willebrand disease, type 2b [MedGen:C1282971,Orphanet:ORPHA166087]
552_ARG CYS ClinVar
chr12:6128641 		rs61749395
Likely pathogenic - not provided [MedGen:CN517202]
553_VAL MET VAR_005798 rs61749397
Disease - Von Willebrand disease 2 (VWD2) [MIM:613554]
553_VAL MET ClinVar
chr12:6128638 		rs61749397
Pathogenic - not provided [MedGen:CN517202]; not specified [MedGen:CN169374]; von Willebrand disease, type 2b [MedGen:C1282971,Orphanet:ORPHA166087]; von Willebrand disorder [MedGen:C0042974,Orphanet:ORPHA903,SNOMED CT:128105004]
555_VAL LEU VAR_005799 -
Disease - Von Willebrand disease 2 (VWD2) [MIM:613554]
555_VAL MET 8.3kJPN
chr12:6128632 		rs372028373
- 0.0001 -
561_GLY SER VAR_005800 rs61749398
Disease - Von Willebrand disease 2 (VWD2) [MIM:613554]
561_GLY SER ClinVar
chr12:6128614 		rs61749398
Pathogenic - not provided [MedGen:CN517202]; von Willebrand disease type 2M [MedGen:C1282974,Orphanet:ORPHA166090,SNOMED CT:359729006]
568_LEU PHE 8.3kJPN
chr12:6128593 		-
- 0.0001 -
571_ARG TRP 8.3kJPN
chr12:6128584 		rs746810319
- 0.0001 -
578_ARG GLN VAR_005801 rs61749403
Disease - Von Willebrand disease 2 (VWD2) [MIM:613554]
578_ARG GLN ClinVar
chr12:6128562 		rs61749403
Pathogenic - not provided [MedGen:CN517202]; von Willebrand disease, type 2b [MedGen:C1282971,Orphanet:ORPHA166087]
579_ARG CYS gnomAD
chr12:6128560 		rs61749404
- 0.000115683 -
601_THR ILE 8.3kJPN
chr12:6128493 		-
- 0.0001 -
603_PHE SER 8.3kJPN
chr12:6128487 		-
- 0.0001 -
609_ILE SER ClinVar
chr12:6128469 		rs61750070
Pathogenic - not provided [MedGen:CN517202]; von Willebrand disorder [MedGen:C0042974,Orphanet:ORPHA903,SNOMED CT:128105004]
610_ASP ASN 8.3kJPN
chr12:6128467 		rs1332206266
- 0.0001 -
611_ARG CYS VAR_005802 rs61750071
Disease - Von Willebrand disease 2 (VWD2) [MIM:613554]
611_ARG HIS VAR_005803 rs61750072
Disease - Von Willebrand disease 2 (VWD2) [MIM:613554]
611_ARG CYS ClinVar
chr12:6128464 		rs61750071
Pathogenic - not provided [MedGen:CN517202]; von Willebrand disorder [MedGen:C0042974,Orphanet:ORPHA903,SNOMED CT:128105004]
611_ARG HIS ClinVar
chr12:6128463 		rs61750072
Pathogenic - Abnormal bleeding [Human Phenotype Ontology:HP:0001892,MedGen:C1458140]; Prolonged bleeding time [Human Phenotype Ontology:HP:0003010,MedGen:C0151529]; not provided [MedGen:CN517202]
611_ARG LEU ClinVar
chr12:6128463 		rs61750072
Likely pathogenic - not provided [MedGen:CN517202]
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 - not provided [MedGen:CN517202]
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 -
632_ARG TRP 8.3kJPN
chr12:6128401 		rs751394243
- 0.0003 -
636_ARG HIS VAR_005805 rs216312
Polymorphism - -
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 THR ClinVar
chr12:6128337 		rs61750081
Likely pathogenic - not provided [MedGen:CN517202]
656_HIS GLN gnomAD
chr12:6128327 		rs569177726
- 0.000159264 -
672_ASN SER gnomAD
chr12:6128280 		rs11063987
- 0.00817897 -
674_ALA THR ClinVar
chr12:6128275 		rs61750084
Likely pathogenic - not provided [MedGen:CN517202]
676_VAL MET gnomAD
chr12:6128269 		rs150077670
- 0.000840209 -
697_LEU VAL VAR_005806 rs61750088
Disease - Von Willebrand disease 2 (VWD2) [MIM:613554]
698_ALA VAL VAR_005807 rs61750089
Disease - Von Willebrand disease 2 (VWD2) [MIM:613554]
698_ALA VAL ClinVar
chr12:6128202 		rs61750089
Pathogenic - not provided [MedGen:CN517202]; not specified [MedGen:CN169374]
698_ALA VAL 8.3kJPN
chr12:6128202 		rs61750089
- 0.0001 -
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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.