PiSITE

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	2134245 2134244
5	1890294 1890296
6	P22030 P22029 P07359

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Molecule viewer

Only interaction residues

#binding
partners

	3
	2
	1
	0

Sequence information

DISEPPLHDF

YCSRLLDLVF

LLDGSSRLSE

AEFEVLKAFV

VDMMERLRIS

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)	AlphaMissense pathogenicity	Disease name
503_PRO	LEU	VAR_005791 rs61749370	LP/P	-	0.1047	Von Willebrand disease 2 (VWD2) [MIM:613554]
503_PRO	LEU	gnomAD chr12:6128787 rs61749370	-	0.000796656	0.1047	-
503_PRO	GLN	gnomAD chr12:6128787 rs61749370	-	0.000276228	0.1403	-
503_PRO	GLN	8.3kJPN chr12:6128787 rs61749370	-	0.001	0.1403	-
505_HIS	ASP	VAR_005792 rs61749371	LP/P	-	0.1834	Von Willebrand disease 2 (VWD2) [MIM:613554]
505_HIS	ASP	ClinVar chr12:6128782 rs61749371	Pathogenic	-	0.1834	not provided\|von Willebrand disease type 2\|Hereditary von Willebrand disease\|Von Willebrand disease type 2B [MedGen:C3661900\|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903\|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318,Orphanet:903\|MONDO:MONDO:0015629,MedGen:C1282971,Orphanet:166087]
509_CYS	ARG	VAR_005793 rs61749372	LP/P	-	0.9287	Von Willebrand disease 2 (VWD2) [MIM:613554]
509_CYS	PHE	VAR_067340 rs63524161	LP/P	-	0.8534	Von Willebrand disease 2 (VWD2) [MIM:613554]
509_CYS	ARG	ClinVar chr12:6128770 rs61749372	Pathogenic	-	0.9287	Von Willebrand disease type 2A\|not provided\|von Willebrand disease type 2 [MONDO:MONDO:0015628,MedGen:C1282968,Orphanet:166084\|MedGen:C3661900\|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903]
516_VAL	ILE	gnomAD chr12:6128749 rs61749376	-	0.000294999	0.1678	-
520_ASP	TYR	ClinVar chr12:6128737 -	Likely pathogenic	-	-	not provided [MedGen:C3661900]
522_SER	PHE	ClinVar chr12:6128730 rs61749380	Likely pathogenic	-	0.9755	von Willebrand disease type 2M\|not provided [MONDO:MONDO:0015630,MedGen:C1282974,Orphanet:166090\|MedGen:C3661900]
522_SER	PRO	ClinVar chr12:6128731 rs61749379	Pathogenic	-	0.9657	not provided\|von Willebrand disease type 2 [MedGen:C3661900\|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903]
525_LEU	ARG	ClinVar chr12:6128721 rs267607334	Pathogenic/Likely pathogenic	-	0.8321	not provided\|Hereditary von Willebrand disease\|von Willebrand disease type 2\|von Willebrand disease type 1 [MedGen:C3661900\|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318,Orphanet:903\|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903\|MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903]
527_GLU	LYS	gnomAD chr12:6128716 rs138900040	-	0.000207102	0.0846	-
530_PHE	LEU	ClinVar chr12:6128707 rs267607335	Pathogenic	-	0.9887	not provided\|von Willebrand disease type 2 [MedGen:C3661900\|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903]
543_ARG	TRP	VAR_005794 rs61749384	LP/P	-	0.173	Von Willebrand disease 2 (VWD2) [MIM:613554]
543_ARG	TRP	ClinVar chr12:6128668 rs61749384	Pathogenic	-	0.173	Von Willebrand disease type 2B\|not provided\|Hereditary von Willebrand disease\|von Willebrand disease type 2\|Abnormality of coagulation\|von Willebrand disease type 1 [MONDO:MONDO:0015629,MedGen:C1282971,Orphanet:166087\|MedGen:C3661900\|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318,Orphanet:903\|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903\|Human Phenotype Ontology:HP:0001928,MedGen:C1846821\|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\|von Willebrand disorder [MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903\|MONDO:MONDO:0024574,MedGen:C0042974]
543_ARG	GLN	ClinVar chr12:6128667 rs61749385	Pathogenic	-	0.0923	not provided\|von Willebrand disease type 2\|VWF-related disorder [MedGen:C3661900\|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903\|]
543_ARG	LEU	ClinVar chr12:6128667 rs61749385	Pathogenic	-	0.2202	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,Orphanet:903]
543_ARG	PRO	ClinVar chr12:6128667 rs61749385	Likely pathogenic	-	0.6112	not specified [MedGen:CN169374]
544_LEU	PRO	ClinVar chr12:6128664 rs61749386	Pathogenic	-	0.8904	not provided\|von Willebrand disease type 2 [MedGen:C3661900\|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903]
545_ARG	CYS	VAR_005795 rs61749387	LP/P	-	0.1825	Von Willebrand disease 2 (VWD2) [MIM:613554]
545_ARG	CYS	ClinVar chr12:6128662 rs61749387	Pathogenic	-	0.1825	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,Orphanet:903\|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903]
545_ARG	LEU	ClinVar chr12:6128661 rs61749388	Likely pathogenic	-	0.1733	Hereditary von Willebrand disease\|von Willebrand disease type 2 [MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318,Orphanet:903\|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903]
545_ARG	HIS	8.3kJPN chr12:6128661 rs61749388	-	0.0001	0.0602	-
546_ILE	VAL	ClinVar chr12:6128659 rs61749389	Pathogenic	-	0.245	not provided\|Hereditary von Willebrand disease\|von Willebrand disease type 2\|Von Willebrand disease type 2B [MedGen:C3661900\|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318,Orphanet:903\|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903\|MONDO:MONDO:0015629,MedGen:C1282971,Orphanet:166087]
546_ILE	ASN	ClinVar chr12:6128658 rs2136413547	Likely pathogenic	-	0.8258	Hereditary von Willebrand disease\|Von Willebrand disease type 2B [MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318,Orphanet:903\|MONDO:MONDO:0015629,MedGen:C1282971,Orphanet:166087]
547_SER	PHE	ClinVar chr12:6128655 rs61749390	Likely pathogenic	-	-	not provided\|von Willebrand disease type 1\|Von Willebrand disease type 2B [MedGen:C3661900\|MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903\|MONDO:MONDO:0015629,MedGen:C1282971,Orphanet:166087]
547_SER	PRO	ClinVar chr12:6128656 rs2136413535	Likely pathogenic	-	0.8869	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,Orphanet:903\|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	-	0.5258	Von Willebrand disease 2 (VWD2) [MIM:613554]
550_TRP	CYS	ClinVar chr12:6128645 rs61749392	Likely pathogenic	-	0.5258	Von Willebrand disease type 2B\|not provided [MONDO:MONDO:0015629,MedGen:C1282971,Orphanet:166087\|MedGen:C3661900]
551_VAL	LEU	VAR_005797 rs61749393	LP/P	-	0.3121	Von Willebrand disease 2 (VWD2) [MIM:613554]
551_VAL	LEU	ClinVar chr12:6128644 rs61749393	Pathogenic	-	0.3121	Von Willebrand disease type 2B\|not provided [MONDO:MONDO:0015629,MedGen:C1282971,Orphanet:166087\|MedGen:C3661900]
551_VAL	PHE	ClinVar chr12:6128644 rs61749393	Pathogenic	-	0.3452	not provided\|Von Willebrand disease type 2B [MedGen:C3661900\|MONDO:MONDO:0015629,MedGen:C1282971,Orphanet:166087]
551_VAL	ASP	ClinVar chr12:6128643 rs61749394	Pathogenic	-	-	not provided\|Von Willebrand disease type 2B [MedGen:C3661900\|MONDO:MONDO:0015629,MedGen:C1282971,Orphanet:166087]
552_ARG	CYS	ClinVar chr12:6128641 rs61749395	Pathogenic/Likely pathogenic	-	0.6909	not provided\|Hereditary von Willebrand disease\|von Willebrand disease type 2\|von Willebrand disease type 1\|von Willebrand disorder\|VWF-related disorder [MedGen:C3661900\|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318,Orphanet:903\|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903\|MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903\|MONDO:MONDO:0024574,MedGen:C0042974\|]
552_ARG	HIS	ClinVar chr12:6128640 rs61749396	Likely pathogenic	-	-	not provided\|von Willebrand disease type 2\|von Willebrand disease type 1\|Inborn genetic diseases\|von Willebrand disease type 2M [MedGen:C3661900\|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903\|MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0015630,MedGen:C1282974,Orphanet:166090]
552_ARG	LEU	ClinVar chr12:6128640 rs61749396	Likely pathogenic	-	0.7705	not provided\|von Willebrand disease type 2 [MedGen:C3661900\|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903]
553_VAL	MET	VAR_005798 rs61749397	LP/P	-	0.4547	Von Willebrand disease 2 (VWD2) [MIM:613554]
553_VAL	MET	ClinVar chr12:6128638 rs61749397	Pathogenic	-	0.4547	Von Willebrand disease type 2B\|not provided\|Hereditary von Willebrand disease\|von Willebrand disease type 2\|von Willebrand disease type 2 [MONDO:MONDO:0015629,MedGen:C1282971,Orphanet:166087\|MedGen:C3661900\|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318,Orphanet:903\|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903\|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903]; von Willebrand disease type 1 [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]
555_VAL	LEU	VAR_005799 rs372028373	LP/P	-	0.13	Von Willebrand disease 2 (VWD2) [MIM:613554]
555_VAL	MET	8.3kJPN chr12:6128632 rs372028373	-	0.0001	0.1562	-
558_TYR	CYS	ClinVar chr12:6128622 rs1591863294	Likely pathogenic	-	0.9031	von Willebrand disease type 2 [MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903]
561_GLY	SER	VAR_005800 rs61749398	LP/P	-	0.1345	Von Willebrand disease 2 (VWD2) [MIM:613554]
561_GLY	SER	ClinVar chr12:6128614 rs61749398	Pathogenic	-	0.1345	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]
561_GLY	ALA	ClinVar chr12:6128613 rs61749399	Pathogenic	-	-	not provided\|von Willebrand disease type 2M [MedGen:C3661900\|MONDO:MONDO:0015630,MedGen:C1282974,Orphanet:166090]
562_SER	PHE	ClinVar chr12:6128610 rs538488005	Likely pathogenic	-	0.4644	not provided [MedGen:C3661900]
568_LEU	PHE	8.3kJPN chr12:6128593 -	-	0.0001	0.3912	-
571_ARG	TRP	8.3kJPN chr12:6128584 rs746810319	-	0.0001	0.1263	-
573_ARG	TER	ClinVar chr12:6128578 rs1565832211	Pathogenic	-	-	not provided [MedGen:C3661900]
574_PRO	LEU	ClinVar chr12:6128574 rs61749400	Likely pathogenic	-	0.2756	not provided\|von Willebrand disease type 1\|von Willebrand disease type 2\|Von Willebrand disease type 2B [MedGen:C3661900\|MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903\|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903\|MONDO:MONDO:0015629,MedGen:C1282971,Orphanet:166087]
577_LEU	PRO	ClinVar chr12:6128565 rs2497516912	Likely pathogenic	-	-	VWF-related disorder [-]
578_ARG	GLN	VAR_005801 rs61749403	LP/P	-	0.1606	Von Willebrand disease 2 (VWD2) [MIM:613554]
578_ARG	GLN	ClinVar chr12:6128562 rs61749403	Pathogenic	-	0.1606	Von Willebrand disease type 2B\|not provided\|Hereditary von Willebrand disease\|von Willebrand disease type 2\|VWF-related disorder [MONDO:MONDO:0015629,MedGen:C1282971,Orphanet:166087\|MedGen:C3661900\|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318,Orphanet:903\|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903\|]
578_ARG	TRP	ClinVar chr12:6128563 rs61749402	Pathogenic	-	0.3012	not provided\|von Willebrand disease type 2\|von Willebrand disease type 1\|Hereditary von Willebrand disease\|Von Willebrand disease type 2B [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,Orphanet:903\|MONDO:MONDO:0015629,MedGen:C1282971,Orphanet:166087]
578_ARG	PRO	ClinVar chr12:6128562 rs61749403	Likely pathogenic	-	0.9056	not provided\|von Willebrand disease type 2 [MedGen:C3661900\|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903]
578_ARG	LEU	ClinVar chr12:6128562 rs61749403	Pathogenic	-	-	not provided [MedGen:C3661900]
579_ARG	CYS	gnomAD chr12:6128560 rs61749404	-	0.000115683	0.2683	-
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/Likely pathogenic	-	0.7564	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	-	0.9751	not provided\|not specified\|Hereditary von Willebrand disease\|von Willebrand disease type 2M [MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318,Orphanet:903\|MONDO:MONDO:0015630,MedGen:C1282974,Orphanet:166090]
601_THR	ILE	8.3kJPN chr12:6128493 -	-	0.0001	0.2727	-
603_PHE	SER	8.3kJPN chr12:6128487 -	-	0.0001	0.6546	-
606_PHE	LEU	ClinVar chr12:6128479 rs61750069	Likely pathogenic	-	0.9639	Hereditary von Willebrand disease [MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318,Orphanet:903]
610_ASP	ASN	8.3kJPN chr12:6128467 rs1332206266	-	0.0001	0.1031	-
611_ARG	CYS	VAR_005802 rs61750071	LP/P	-	0.7111	Von Willebrand disease 2 (VWD2) [MIM:613554]
611_ARG	HIS	VAR_005803 rs61750072	LP/P	-	0.3172	Von Willebrand disease 2 (VWD2) [MIM:613554]
611_ARG	CYS	ClinVar chr12:6128464 rs61750071	Pathogenic	-	0.7111	not provided\|Hereditary von Willebrand disease\|von Willebrand disease type 2\|von Willebrand disorder [MedGen:C3661900\|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318,Orphanet:903\|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903\|MONDO:MONDO:0024574,MedGen:C0042974]
611_ARG	HIS	ClinVar chr12:6128463 rs61750072	Pathogenic	-	0.3172	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,Orphanet:903\|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/Likely pathogenic	-	0.7413	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,Orphanet:903]
612_PRO	SER	gnomAD chr12:6128461 rs751767496	-	0.000151432	0.1544	-
614_ALA	VAL	gnomAD chr12:6128454 rs141211612	-	0.000211334	0.313	-
617_ILE	VAL	gnomAD chr12:6128446 rs11063988	-	0.0084994	0.1032	-
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	-	0.8748	not provided [MedGen:CN517202]
625_GLN	TER	ClinVar chr12:6128422 -	Pathogenic	-	-	von Willebrand disease type 3 [MONDO:MONDO:0010191,MedGen:C1264041,OMIM:277480,Orphanet:166096]
632_ARG	TRP	8.3kJPN chr12:6128401 rs751394243	-	0.0003	0.1598	-
636_ARG	HIS	VAR_005805 rs1800382	LB/B	-	0.1414	-
636_ARG	CYS	ClinVar chr12:6128389 rs61750077	Pathogenic	-	-	not provided\|Hereditary von Willebrand disease\|von Willebrand disease type 2\|von Willebrand disorder\|von Willebrand disease type 2M [MedGen:C3661900\|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318,Orphanet:903\|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903\|MONDO:MONDO:0024574,MedGen:C0042974\|MONDO:MONDO:0015630,MedGen:C1282974,Orphanet:166090]
636_ARG	HIS	gnomAD chr12:6128388 rs1800382	-	0.00858068	0.1414	-
638_VAL	ILE	gnomAD chr12:6128383 rs536484748	-	0.000183287	0.0803	-
638_VAL	ILE	8.3kJPN chr12:6128383 rs536484748	-	0.0032	0.0803	-
639_GLN	PRO	ClinVar chr12:6128379 -	Likely pathogenic	-	-	von Willebrand disorder [MONDO:MONDO:0024574,MedGen:C0042974]
646_VAL	PHE	ClinVar chr12:6128359 -	Likely pathogenic	-	-	von Willebrand disease type 2M [MONDO:MONDO:0015630,MedGen:C1282974,Orphanet:166090]
652_GLY	ASP	ClinVar chr12:6128340 rs61750080	Likely pathogenic	-	-	not provided\|von Willebrand disease type 2M [MedGen:C3661900\|MONDO:MONDO:0015630,MedGen:C1282974,Orphanet:166090]
653_ILE	ASN	ClinVar chr12:6128337 rs61750081	Pathogenic/Likely pathogenic	-	0.8669	not provided\|Hereditary von Willebrand disease\|von Willebrand disease type 2 [MedGen:C3661900\|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318,Orphanet:903\|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903]
653_ILE	THR	ClinVar chr12:6128337 rs61750081	Pathogenic/Likely pathogenic	-	0.5566	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,Orphanet:903]
654_GLY	TRP	ClinVar chr12:6128335 rs2136412846	Likely pathogenic	-	0.9055	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	0.1582	-
658_ASN	LYS	ClinVar chr12:6128321 rs61750082	Likely pathogenic	-	0.5485	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	-	0.2934	not provided\|Hereditary von Willebrand disease\|von Willebrand disease type 1 [MedGen:C3661900\|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318,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]
672_ASN	SER	gnomAD chr12:6128280 rs11063987	-	0.00817897	0.3839	-
674_ALA	THR	ClinVar chr12:6128275 rs61750084	Pathogenic/Likely pathogenic	-	0.1827	not provided\|von Willebrand disease type 2\|von Willebrand disease type 1 [MedGen:C3661900\|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903\|MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903]
676_VAL	MET	gnomAD chr12:6128269 rs150077670	-	0.000840209	0.115	-
685_GLN	TER	ClinVar chr12:6128242 rs2497515136	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	-	0.1144	Von Willebrand disease 2 (VWD2) [MIM:613554]
697_LEU	PHE	ClinVar chr12:6128206 rs61750088	Likely pathogenic	-	0.1749	not provided [MedGen:C3661900]
697_LEU	PRO	ClinVar chr12:6128205 -	Likely pathogenic	-	-	not provided [MedGen:C3661900]
698_ALA	VAL	VAR_005807 rs61750089	LP/P	-	0.1183	Von Willebrand disease 2 (VWD2) [MIM:613554]
698_ALA	VAL	ClinVar chr12:6128202 rs61750089	Pathogenic	-	0.1183	not provided\|not specified [MedGen:C3661900\|MedGen:CN169374]
698_ALA	VAL	8.3kJPN chr12:6128202 rs61750089	-	0.0001	0.1183	-

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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

	P22030	Botrocetin
	P22029	Botrocetin
	P07359	Platelet glycoprotein Ib

	2134245	bitiscetin beta chain
	2134244	bitiscetin alpha chain

	1890294	NMC-4 IGG1
	1890296	NMC-4 IGG1