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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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
Disease name
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 VAR_005791 rs61749370 Disease Von Willebrand disease 2 (VWD2) [MIM:613554]
505_HIS ASP VAR_005792 rs61749371 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]
509_CYS PHE VAR_067340 rs63524161 Disease Von Willebrand disease 2 (VWD2) [MIM:613554]
522_SER PHE ClinVar
chr12:6128730
rs61749380 Pathogenic not provided [MedGen:CN517202]; von Willebrand disease type 2M [MedGen:C1282974,Orphanet:ORPHA166090,SNOMED CT:359729006]
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 ClinVar
chr12:6128662
rs61749387 Pathogenic not provided [MedGen:CN517202]; von Willebrand disease, type 2b [MedGen:C1282971,Orphanet:ORPHA166087]
546_ILE VAL ClinVar
chr12:6128659
rs61749389 Pathogenic not provided [MedGen:CN517202]; von Willebrand disorder [MedGen:C0042974,Orphanet:ORPHA903,SNOMED CT:128105004]
550_TRP CYS ClinVar
chr12:6128645
rs61749392 Pathogenic not provided [MedGen:CN517202]; von Willebrand disease, type 2b [MedGen:C1282971,Orphanet:ORPHA166087]
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 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]
561_GLY SER ClinVar
chr12:6128614
rs61749398 Pathogenic not provided [MedGen:CN517202]; von Willebrand disease type 2M [MedGen:C1282974,Orphanet:ORPHA166090,SNOMED CT:359729006]
578_ARG GLN ClinVar
chr12:6128562
rs61749403 Pathogenic not provided [MedGen:CN517202]; von Willebrand disease, type 2b [MedGen:C1282971,Orphanet:ORPHA166087]
609_ILE SER ClinVar
chr12:6128469
rs61750070 Pathogenic not provided [MedGen:CN517202]; von Willebrand disorder [MedGen:C0042974,Orphanet:ORPHA903,SNOMED CT:128105004]
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]
616_ARG CYS ClinVar
chr12:6128449
rs61750074 Pathogenic not provided [MedGen:CN517202]
636_ARG HIS VAR_005805 rs216312 Polymorphism -
653_ILE THR ClinVar
chr12:6128337
rs61750081 Likely pathogenic not provided [MedGen:CN517202]
674_ALA THR ClinVar
chr12:6128275
rs61750084 Likely pathogenic not provided [MedGen:CN517202]
697_LEU VAL VAR_005806 rs61750088 Disease Von Willebrand disease 2 (VWD2) [MIM:613554]
698_ALA VAL ClinVar
chr12:6128202
rs61750089 Pathogenic not provided [MedGen:CN517202]; not specified [MedGen:CN169374]