PDB ID 1DM4     CHAIN B
Protein name PROTEIN (MUTANT ALPHA THROMBIN:HEAVY CHAIN)
Uniprot Accession P00734
The number of similar proteins 455
The number of binding states 29
The number of binding partners 22

Molecule viewer


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

Sequence information

1   RIVEGSDAEI   GMSPWQVMLF   RKSPQELLCG   ASLISDRWVL   TAAHCLLYPP   50
51   WDKNFTENDL   LVRIGKHSRT   RYERNIEKIS   MLEKIYIHPR   YNWRENLDRD   100
101   IALMKLKKPV   AFSDYIHPVC   LPDRETAASL   LQAGYKGRVT   GWGNLKETWT   150
151   ANVGKGQPSV   LQVVNLPIVE   RPVCKDSTRI   RITDNMFCAG   YKPDEGKRGD   200
201   ACEGDAGGPF   VMKSPFNNRW   YQMGIVSWGE   GCDRDGKYGF   YTHVFRLKKW   250
251   IQKVIDQFGE           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.