PDB ID 1DM4     CHAIN B
Protein name PROTEIN (MUTANT ALPHA THROMBIN:HEAVY CHAIN)
Uniprot Accession P00734
The number of similar proteins 391
The number of binding states 28
The number of binding partners 20

Molecule viewer

#binding
partners
  >9
  8
  7
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  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
(4.7kJPN)
Disease name
32_MET THR VAR_006714 rs121918481
Disease - Factor II deficiency (FA2D) [MIM:613679]
32_MET THR ClinVar
chr11:46749554
rs121918481
Pathogenic - Hereditary factor II deficiency disease [MedGen:C0272317,SNOMED CT:33297000]
35_ARG TRP 4.7kJPN
chr11:46749562
rs147456134
- 0.0001 -
37_PRO THR VAR_011782 rs5897
Polymorphism - -
49_ASP GLU 4.7kJPN
chr11:46749609
rs1255378194
- 0.0002 -
50_ARG HIS 4.7kJPN
chr11:46749611
rs765024112
- 0.0002 -
59_LEU ILE 4.7kJPN
chr11:46749637
-
- 0.0001 -
60E_ASP ASN 4.7kJPN
chr11:46749655
rs756233961
- 0.0001 -
67_ARG CYS VAR_006715 rs121918479
Disease - Factor II deficiency (FA2D) [MIM:613679]
67_ARG CYS ClinVar
chr11:46749688
rs121918479
Pathogenic - Hereditary factor II deficiency disease [MedGen:C0272317,SNOMED CT:33297000]
67_ARG HIS ClinVar
chr11:46749689
rs121918485
Pathogenic - Hereditary factor II deficiency disease [MedGen:C0272317,SNOMED CT:33297000]
73_ARG HIS VAR_006716 rs121918482
Disease - Factor II deficiency (FA2D) [MIM:613679]
73_ARG HIS ClinVar
chr11:46749707
rs121918482
Pathogenic - DYSPROTHROMBINEMIA PROTHROMBIN HIMI-II [na]
97_ARG GLN 4.7kJPN
chr11:46750282
rs143498218
- 0.0003 -
101_ARG TRP VAR_006717 rs121918478
Disease - Factor II deficiency (FA2D) [MIM:613679]
101_ARG TRP ClinVar
chr11:46750296
rs121918478
Pathogenic - Hereditary factor II deficiency disease [MedGen:C0272317,SNOMED CT:33297000]
111_PRO ALA 4.7kJPN
chr11:46750326
rs377462682
- 0.0001 -
125_ASP GLY 4.7kJPN
chr11:46750369
-
- 0.0001 -
146_GLU ALA VAR_006718 -
Disease - Factor II deficiency (FA2D) [MIM:613679]
164_GLU GLN VAR_068913 -
Polymorphism - -
167_VAL ILE 4.7kJPN
chr11:46751060
rs768032315
- 0.0009 -
221_ASP GLU ClinVar
chr11:46760874
rs121918486
Pathogenic - Hereditary factor II deficiency disease [MedGen:C0272317,SNOMED CT:33297000]
226_GLY VAL VAR_006719 rs121918480
Disease - Factor II deficiency (FA2D) [MIM:613679]
226_GLY VAL ClinVar
chr11:46760891
rs121918480
Pathogenic - Hereditary factor II deficiency disease [MedGen:C0272317,SNOMED CT:33297000]
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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.