PDB ID 1U0N     CHAIN D
Protein name Platelet glycoprotein Ib
Uniprot Accession P07359
The number of similar proteins 14
The number of binding states 5
The number of binding partners 3

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
1U0N (CHAIN: D)
1 P22030   P04275  
2 Monomeric state
3 P04275  
4 P00734  
5 Q8AYA3   Q8JIV9  

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  3
  2
  1
  0

Sequence information

1   HPICEVSKVA   SHLEVNCDKR   QLTALPPDLP   KDTTILHLSE   NLLYTFSLAT   50
51   LMPYTRLTQL   NLDRCELTKL   QVDGTLPVLG   TLDLSHNQLQ   SLPLLGQTLP   100
101   ALTVLDVSFN   RLTSLPLGAL   RGLGELQELY   LKGNELKTLP   PGLLTPTPKL   150
151   EKLSLANNQL   TELPAGLLNG   LENLDTLLLQ   ENSLYTIPKG   FFGSHLLPFA   200
201   FLHGNPWLCN   CEILYFRRWL   QDNAENVYVW   KQGVDVKAMT   SNVASVQCDN   250
251   SDKFPVYKYP   GKGCP         300

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
4_CYS GLY ClinVar
chr17:4835957 		rs2151107661
Pathogenic - Bernard-Soulier syndrome, type A2, autosomal dominant|not provided [MONDO:MONDO:0007930,MedGen:C3277076,OMIM:153670,Orphanet:274|MedGen:C3661900]
15_VAL ALA gnomAD
chr17:4835991 		rs201827537
- 0.00125156 -
17_CYS SER ClinVar
chr17:4835997 		rs1597638300
Likely pathogenic - Macrothrombocytopenia [Human Phenotype Ontology:HP:0040185,MedGen:C2751260]
17_CYS TYR ClinVar
chr17:4835997 		rs1597638300
Likely pathogenic - Bernard-Soulier syndrome, type A2, autosomal dominant [MONDO:MONDO:0007930,MedGen:C3277076,OMIM:153670,Orphanet:274]
20_ARG GLY gnomAD
chr17:4836005 		rs111292798
- 0.00155213 -
30_PRO LEU ClinVar
chr17:4836036 		rs760759446
Likely pathogenic - Bernard Soulier syndrome|Bernard-Soulier syndrome, type A2, autosomal dominant [MONDO:MONDO:0009276,MeSH:D001606,MedGen:C0005129,OMIM:231200,Orphanet:274|MONDO:MONDO:0007930,MedGen:C3277076,OMIM:153670,Orphanet:274]
41_ASN ASP ClinVar
chr17:4836068 		rs2151107705
Likely pathogenic - Bernard-Soulier syndrome, type A2, autosomal dominant|GP1BA-related condition [MONDO:MONDO:0007930,MedGen:C3277076,OMIM:153670,Orphanet:274|]
53_PRO LEU gnomAD
chr17:4836105 		rs138825640
- 0.00174504 -
56_ARG HIS VAR_011909 rs6068
LB/B - -
56_ARG HIS gnomAD
chr17:4836114 		rs6068
- 0.00158878 -
56_ARG CYS 8.3kJPN
chr17:4836113 		rs1326554937
- 0.0001 -
56_ARG HIS 8.3kJPN
chr17:4836114 		rs6068
- 0.0001 -
57_LEU PHE VAR_014206 rs121908063
LP/P - Bernard-Soulier syndrome (BSS) [MIM:231200]
57_LEU PHE ClinVar
chr17:4836116 		rs121908063
Likely pathogenic - Bernard-Soulier syndrome, type A2, autosomal dominant|Macrothrombocytopenia [MONDO:MONDO:0007930,MedGen:C3277076,OMIM:153670,Orphanet:274|Human Phenotype Ontology:HP:0040185,MedGen:C2751260]
65_CYS ARG VAR_005256 rs781541857
LP/P - Bernard-Soulier syndrome (BSS) [MIM:231200]
65_CYS ARG ClinVar
chr17:4836140 		rs781541857
Pathogenic - Bernard Soulier syndrome [MONDO:MONDO:0009276,MeSH:D001606,MedGen:C0005129,OMIM:231200,Orphanet:274]
67_LEU PHE ClinVar
chr17:4836146 		rs767224320
Likely pathogenic - Bernard-Soulier syndrome, type A2, autosomal dominant [MONDO:MONDO:0007930,MedGen:C3277076,OMIM:153670,Orphanet:274]
70_LEU PHE VAR_013511 rs13306411
LB/B - -
70_LEU PHE gnomAD
chr17:4836155 		rs13306411
- 0.000244779 -
70_LEU PHE 8.3kJPN
chr17:4836155 		rs13306411
- 0.0407 -
72_VAL ILE 8.3kJPN
chr17:4836161 		-
- 0.0001 -
73_ASP ASN 8.3kJPN
chr17:4836164 		-
- 0.0001 -
75_THR MET 8.3kJPN
chr17:4836171 		rs753365146
- 0.0001 -
96_GLY ARG 8.3kJPN
chr17:4836233 		rs373756376
- 0.0013 -
99_LEU PRO ClinVar
chr17:4836243 		rs1597638598
Pathogenic/Likely pathogenic - Thrombocytopenia|Bernard-Soulier syndrome, type A2, autosomal dominant [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|MONDO:MONDO:0007930,MedGen:C3277076,OMIM:153670,Orphanet:274]
103_THR ALA gnomAD
chr17:4836254 		rs371797414
- 0.000112355 -
107_VAL ILE 8.3kJPN
chr17:4836266 		rs760616671
- 0.0004 -
120_LEU PRO ClinVar
chr17:4836306 		rs1597638681
Likely pathogenic - Thrombocytopenia [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]
122_GLY VAL ClinVar
chr17:4836312 		rs1970365829
Likely pathogenic - Abnormal bleeding [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]; Thrombocytopenia [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]
129_LEU PRO VAR_014207 rs771048666
LP/P - Bernard-Soulier syndrome (BSS) [MIM:231200]
129_LEU PRO ClinVar
chr17:4836333 		rs771048666
Pathogenic - Bernard Soulier syndrome|not provided|Bernard-Soulier syndrome, type A2, autosomal dominant [MONDO:MONDO:0009276,MeSH:D001606,MedGen:C0005129,OMIM:231200,Orphanet:274|MedGen:C3661900|MONDO:MONDO:0007930,MedGen:C3277076,OMIM:153670,Orphanet:274]
129_LEU PRO gnomAD
chr17:4836333 		rs771048666
- 0.000116382 -
134_ASN SER ClinVar
chr17:4836348 		rs1597638745
Likely pathogenic - Thrombocytopenia|Macrothrombocytopenia|Bernard-Soulier syndrome, type A2, autosomal dominant [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|Human Phenotype Ontology:HP:0040185,MedGen:C2751260|MONDO:MONDO:0007930,MedGen:C3277076,OMIM:153670,Orphanet:274]
138_THR ASN 8.3kJPN
chr17:4836360 		rs1229994069
- 0.0001 -
145_THR MET VAR_005257 rs6065
LB/B - -
145_THR MET gnomAD
chr17:4836381 		rs6065
- 0.09765 -
145_THR MET 8.3kJPN
chr17:4836381 		rs6065
- 0.1169 -
151_GLU TER ClinVar
chr17:4836398 		rs753768072
Pathogenic - Bernard Soulier syndrome [MONDO:MONDO:0009276,MeSH:D001606,MedGen:C0005129,OMIM:231200,Orphanet:274]
156_ALA VAL VAR_005258 rs121908065
LP/P - Bernard-Soulier syndrome (BSS) [MIM:231200]
156_ALA VAL ClinVar
chr17:4836414 		rs121908065
Pathogenic - Bernard-Soulier syndrome, type A1|Bernard-Soulier syndrome, type A2, autosomal dominant|not provided [MedGen:C3278148|MONDO:MONDO:0007930,MedGen:C3277076,OMIM:153670,Orphanet:274|MedGen:C3661900]
180_GLN TER ClinVar
chr17:4836485 		rs371226354
Pathogenic/Likely pathogenic - not provided [MedGen:C3661900]
209_CYS SER VAR_005260 rs1394634674
LP/P - Bernard-Soulier syndrome (BSS) [MIM:231200]
209_CYS SER ClinVar
chr17:4836572 		rs1394634674
Pathogenic/Likely pathogenic - Bernard-Soulier syndrome, type A1|Bernard Soulier syndrome|not provided|Bernard-Soulier syndrome, type A2, autosomal dominant [MedGen:C3278148|MONDO:MONDO:0009276,MeSH:D001606,MedGen:C0005129,OMIM:231200,Orphanet:274|MedGen:CN517202|MONDO:MONDO:0007930,MedGen:C3277076,OMIM:153670,Orphanet:274]
209_CYS SER ClinVar
chr17:4836573 		rs2151107940
Pathogenic - Bernard Soulier syndrome [MONDO:MONDO:0009276,MeSH:D001606,MedGen:C0005129,OMIM:231200,Orphanet:274]
222_ASP ASN gnomAD
chr17:4836611 		rs534164809
- 0.000108315 -
230_TRP LEU ClinVar
chr17:4836636 		rs2151107964
Pathogenic - Pseudo von Willebrand disease [MONDO:MONDO:0008332,MedGen:C1280798,OMIM:177820,Orphanet:52530]
233_GLY VAL VAR_005261 rs121908062
LP/P - Pseudo-von Willebrand disease (VWDP) [MIM:177820]
233_GLY SER VAR_019657 rs1597639057
LP/P - Pseudo-von Willebrand disease (VWDP) [MIM:177820]
233_GLY VAL ClinVar
chr17:4836645 		rs121908062
Pathogenic/Likely pathogenic - Pseudo von Willebrand disease [MONDO:MONDO:0008332,MedGen:C1280798,OMIM:177820,Orphanet:52530]
233_GLY SER ClinVar
chr17:4836644 		rs1597639057
Likely pathogenic - Thrombocytopenia [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]
233_GLY ASP ClinVar
chr17:4836645 		rs121908062
Pathogenic - Pseudo von Willebrand disease [MONDO:MONDO:0008332,MedGen:C1280798,OMIM:177820,Orphanet:52530]
238_ALA SER VAR_011910 rs382524
LB/B - -
239_MET VAL VAR_005262 rs121908064
LP/P - Pseudo-von Willebrand disease (VWDP) [MIM:177820]
239_MET VAL ClinVar
chr17:4836662 		rs121908064
Pathogenic/Likely pathogenic - Pseudo von Willebrand disease|Thrombocytopenia|Impaired ristocetin-induced platelet aggregation|not provided [MONDO:MONDO:0008332,MedGen:C1280798,OMIM:177820,Orphanet:52530|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|Human Phenotype Ontology:HP:0011871,MedGen:C4023154|MedGen:C3661900]
243_VAL MET 8.3kJPN
chr17:4836674 		rs749788312
- 0.0001 -
248_CYS TER 8.3kJPN
chr17:4836691 		-
- 0.0001 -
249_ASP TYR ClinVar
chr17:4836692 		rs765474118
Pathogenic - Pseudo von Willebrand disease [MONDO:MONDO:0008332,MedGen:C1280798,OMIM:177820,Orphanet:52530]
250_ASN ILE 8.3kJPN
chr17:4836696 		-
- 0.0001 -
265_PRO SER 8.3kJPN
chr17:4836740 		rs1475292897
- 0.0001 -
(Powered by wupsivus)

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.