PDB ID 8KME     CHAIN 2
Protein name THROMBIN
Uniprot Accession P00734
The number of similar proteins 455
The number of binding states 27
The number of binding partners 20

Molecule viewer


Only interaction residues
#binding
partners
  >9
  8
  7
  6
  5
  4
  3
  2
  1
  0

Sequence information

1   IVEGSDAEIG   MSPWQVMLFR   KSPQELLCGA   SLISDRWVLT   AAHCLLYPPW   50
51   DKNFTENDLL   VRIGKHSRTR   YERNIEKISM   LEKIYIHPRY   NWRENLDRDI   100
101   ALMKLKKPVA   FSDYIHPVCL   PDRETAASLL   QAGYKGRVTG   WGNLKETWTA   150
151   NVGKGQPSVL   QVVNLPIVER   PVCKDSTRIR   ITDNMFCAGY   KPDEGKRGDA   200
201   CEGDSGGPFV   MKSPFNNRWY   QMGIVSWGEG   CDRDGKYGFY   THVFRLKKWI   250
251   QKVIDQFGE           300

Variants

Residue AA Source dbSNP Clinical
Significance
Allele
Frequency
(> 0.0001)
Disease name
17_VAL GLU ClinVar
chr11:46748351
rs747234596
Likely pathogenic - Congenital prothrombin deficiency [MONDO:MONDO:0013361,MedGen:C0272317,OMIM:613679,Orphanet:325]
32_MET THR VAR_006714 rs121918481
LP/P - Factor II deficiency (FA2D) [MIM:613679]
32_MET THR ClinVar
chr11:46749554
rs121918481
Pathogenic - Congenital prothrombin deficiency [MONDO:MONDO:0013361,MedGen:C0272317,OMIM:613679,Orphanet:325]
35_ARG TRP 8.3kJPN
chr11:46749562
rs147456134
- 0.0001 -
37_PRO THR VAR_011782 rs5897
LB/B - -
38_GLN TER ClinVar
chr11:46749574
rs2064886777
Pathogenic/Likely pathogenic - not provided|Congenital prothrombin deficiency [MedGen:C3661900|MONDO:MONDO:0013361,MedGen:C0272317,OMIM:613679,Orphanet:325]
49_ASP GLU 8.3kJPN
chr11:46749609
rs1255378194
- 0.0002 -
50_ARG HIS 8.3kJPN
chr11:46749611
rs765024112
- 0.0001 -
52_VAL ILE 8.3kJPN
chr11:46749616
-
- 0.0002 -
63_ASP GLU 8.3kJPN
chr11:46749678
-
- 0.0001 -
66_VAL MET ClinVar
chr11:46749685
rs1310397756
Likely pathogenic - Congenital prothrombin deficiency [MONDO:MONDO:0013361,MedGen:C0272317,OMIM:613679,Orphanet:325]
67_ARG CYS VAR_006715 rs121918479
LP/P - Factor II deficiency (FA2D) [MIM:613679]
67_ARG CYS ClinVar
chr11:46749688
rs121918479
Pathogenic - Congenital prothrombin deficiency [MONDO:MONDO:0013361,MedGen:C0272317,OMIM:613679,Orphanet:325]
67_ARG HIS ClinVar
chr11:46749689
rs121918485
Pathogenic - Congenital prothrombin deficiency [MONDO:MONDO:0013361,MedGen:C0272317,OMIM:613679,Orphanet:325]
67_ARG CYS 8.3kJPN
chr11:46749688
rs121918479
- 0.0001 -
73_ARG HIS VAR_006716 rs121918482
LP/P - Factor II deficiency (FA2D) [MIM:613679]
73_ARG HIS ClinVar
chr11:46749707
rs121918482
Pathogenic - DYSPROTHROMBINEMIA PROTHROMBIN HIMI-II [-]
77A_ARG TER 8.3kJPN
chr11:46750221
-
- 0.0001 -
97_ARG GLN 8.3kJPN
chr11:46750282
rs143498218
- 0.0004 -
101_ARG TRP VAR_006717 rs121918478
LP/P - Factor II deficiency (FA2D) [MIM:613679]
101_ARG TRP ClinVar
chr11:46750296
rs121918478
Pathogenic - Congenital prothrombin deficiency [MONDO:MONDO:0013361,MedGen:C0272317,OMIM:613679,Orphanet:325]
111_PRO ALA 8.3kJPN
chr11:46750326
rs377462682
- 0.0002 -
125_ASP GLY 8.3kJPN
chr11:46750369
-
- 0.0001 -
136_GLY GLU ClinVar
chr11:46750953
rs2134537035
Likely pathogenic - Congenital prothrombin deficiency [MONDO:MONDO:0013361,MedGen:C0272317,OMIM:613679,Orphanet:325]
137_ARG GLN ClinVar
chr11:46750956
rs202003146
Pathogenic - Congenital prothrombin deficiency [MONDO:MONDO:0013361,MedGen:C0272317,OMIM:613679,Orphanet:325]
146_GLU ALA VAR_006718 -
LP/P - Factor II deficiency (FA2D) [MIM:613679]
164_GLU GLN VAR_068913 -
LB/B - -
167_VAL ILE 8.3kJPN
chr11:46751060
rs768032315
- 0.0008 -
175_ARG LEU gnomAD
chr11:46751085
rs143064939
- 0.0048737 -
187_ARG TER ClinVar
chr11:46760621
-
Pathogenic - Congenital prothrombin deficiency [MONDO:MONDO:0013361,MedGen:C0272317,OMIM:613679,Orphanet:325]
207_TRP TER ClinVar
chr11:46760834
-
Likely pathogenic - Congenital prothrombin deficiency [MONDO:MONDO:0013361,MedGen:C0272317,OMIM:613679,Orphanet:325]
221_ASP GLU ClinVar
chr11:46760874
rs121918486
Pathogenic - Congenital prothrombin deficiency [MONDO:MONDO:0013361,MedGen:C0272317,OMIM:613679,Orphanet:325]
221A_ARG LEU ClinVar
chr11:46760876
rs387907201
Pathogenic - Thrombophilia due to thrombin defect [MONDO:MONDO:0008559,MedGen:C3160733,OMIM:188050]
221A_ARG GLN ClinVar
chr11:46760876
rs387907201
Pathogenic - Thrombophilia due to thrombin defect|not provided|Congenital prothrombin deficiency [MONDO:MONDO:0008559,MedGen:C3160733,OMIM:188050|MedGen:C3661900|MONDO:MONDO:0013361,MedGen:C0272317,OMIM:613679,Orphanet:325]
221A_ARG TRP ClinVar
chr11:46760875
-
Pathogenic - Congenital prothrombin deficiency [MONDO:MONDO:0013361,MedGen:C0272317,OMIM:613679,Orphanet:325]
226_GLY VAL VAR_006719 rs121918480
LP/P - Factor II deficiency (FA2D) [MIM:613679]
226_GLY VAL ClinVar
chr11:46760891
rs121918480
Pathogenic - Congenital prothrombin deficiency [MONDO:MONDO:0013361,MedGen:C0272317,OMIM:613679,Orphanet:325]
230_HIS TYR 8.3kJPN
chr11:46760902
-
- 0.0001 -
233_ARG HIS 8.3kJPN
chr11:46760912
rs758608905
- 0.0001 -
234_LEU PRO ClinVar
chr11:46760915
rs1592422740
Likely pathogenic - Prolonged prothrombin time [Human Phenotype Ontology:HP:0008151,MedGen:C0853225]
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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.