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Results for the Protein: P05546
123055

HEP2_HUMAN RecName: Full=Heparin cofactor 2; AltName: Full=Heparin cofactor II; Short=HC-II; AltName: Full=Protease inhibitor leuserpin-2; Short=HLS2; AltName: Full=Serpin D1; Flags: Precursor

Known Diseases associated with this Protein:
  THROMBOPHILIA DUE TO HEPARIN COFACTOR 2 DEFICIENCY (THPH10)
3
6
0
0
9
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

HCII - cd02047
COG4826 - COG4826
PEDF - cd02052
PAI-1_nexin-1 - cd02051
antithrombin-III_lik - cd02045
hsp47 - cd02046
PZI - cd02055
angiotensinogen - cd02054
PAI-2 - cd02058
ovalbumin_like - cd02059
maspin_like - cd02057
ov-serpin - cd02044
bacterial_SERPIN - cd02049
alpha2AP - cd02053
Serpin - pfam00079
SERPIN - cd00172
alpha-1-antitrypsin_ - cd02056
neuroserpin - cd02048
C1_inh - cd02050
plant_SERPIN - cd02043
SERPIN - smart00093


Swiss-Prot Protein: P05546
   Default View:























Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
HCIIcd0204762497
PAI-1_nexin-1cd020517e-18120496
PEDFcd020521.1e-13120496
antithrombin-III_likcd020454.4e-51122493
hsp47cd020464.8e-17124493
angiotensinogencd020541.5e-10125496
PZIcd020559.6e-34125493
ov-serpincd020441.8e-50126496
bacterial_SERPINcd020493.6e-36126493
alpha2APcd020539.5e-16126493
maspin_likecd020574.8e-17126496
PAI-2cd020584.2e-29126496
ovalbumin_likecd020597.7e-42126496
SERPINcd001721.2e-138129493
alpha-1-antitrypsin_cd020566.7e-62129493
neuroserpincd020483.1e-36131498
C1_inhcd020502.7e-12131493
plant_SERPINcd020437.8e-18132496
COG4826COG48264.3e-3796498
Serpinpfam000794e-128128496
SERPINsmart000934.8e-157135496

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_011746Polymorphismp.ALA7THRN/A
Swiss-ProtVAR_007112Diseasep.ARG208HISThrombophilia due to heparin cofactor 2 deficiency (THPH10)
Swiss-ProtVAR_054977Diseasep.GLU447LYSThrombophilia due to heparin cofactor 2 deficiency (THPH10)
Swiss-ProtVAR_011747Polymorphismp.HIS60PRON/A
Swiss-ProtVAR_051954Polymorphismp.LEU129VALN/A
Swiss-ProtVAR_011748Polymorphismp.LYS237ARGN/A
Swiss-ProtVAR_054978Diseasep.PRO462LEUThrombophilia due to heparin cofactor 2 deficiency (THPH10)
Swiss-ProtVAR_051953Polymorphismp.SER87ASNN/A
Swiss-ProtVAR_011749Polymorphismp.THR442METN/A



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