Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: P07204
136170

TRBM_HUMAN RecName: Full=Thrombomodulin; Short=TM; AltName: Full=Fetomodulin; AltName: CD_antigen=CD141; Flags: Precursor

Known Diseases associated with this Protein:
  HEMOLYTIC UREMIC SYNDROME ATYPICAL 6 (AHUS6)
  HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6
  RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
  THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT
  THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT (THPH12)
  VARIANT OF UNKNOWN SIGNIFICANCE
15
3
7
2
9
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

CLECT - smart00034
CLECT_REG-1_like - cd03594
CLECT_thrombomodulin - cd03600
CLECT_EMBP_like - cd03598
CLECT - cd00037
Lectin_C - pfam00059
EGF - cd00053
EGF - smart00181
EGF - pfam00008
EGF_CA - pfam07645
EGF_CA - cd00054
EGF_CA - smart00179
Tme5_EGF_like - pfam09064


Swiss-Prot Protein: P07204
Identical to: NP_000352
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CLECT_thrombomodulincd036005.7e-8230171
CLECT_EMBP_likecd035980.000833169
CLECTcd000371.4e-1434169
EGFcd000530.00058244281
EGFcd000535.4e-05287324
EGF_CAcd000543.2e-08325363
EGFcd000532.6e-05328363
EGF_CAcd000546.3e-09441481
EGFcd000531.8e-05444481
Lectin_Cpfam000590.000441169
EGFpfam000080.00076245279
CLECTsmart000349.8e-1224168
EGFsmart001811.9e-05244281
EGFsmart001815.3e-06287324
EGF_CApfam076451.6e-05325362
EGF_CAsmart001799.2e-09325363
EGFsmart001812.9e-05328363
Tme5_EGF_likepfam090649.6e-23406439
EGF_CApfam076458e-05441480
EGF_CAsmart001796.1e-08441481
EGFsmart001812.3e-05444481

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_063674Diseasep.ALA236GLYHemolytic uremic syndrome atypical 6 (AHUS6)
dbSNPrs36110902 Polymorphismp.ALA162PRON/A
Swiss-ProtVAR_011368Diseasep.ALA43THRHemolytic uremic syndrome atypical 6 (AHUS6)
dbSNPrs1042579 Polymorphismp.ALA473VALN/A
Swiss-ProtVAR_063673Diseasep.ASP34GLUHemolytic uremic syndrome atypical 6 (AHUS6)
Swiss-ProtVAR_063223Diseasep.ASP53GLYHemolytic uremic syndrome atypical 6 (AHUS6)
Swiss-ProtVAR_011371Diseasep.ASP486TYRThrombophilia due to thrombomodulin defect (THPH12)
Swiss-ProtVAR_011369Polymorphismp.GLY79ALAN/A
Swiss-ProtVAR_011373Diseasep.PRO501LEUHemolytic uremic syndrome atypical 6 (AHUS6)
Swiss-ProtVAR_011372Diseasep.PRO495SERHemolytic uremic syndrome atypical 6 (AHUS6)
Swiss-ProtVAR_063224Diseasep.VAL81LEUHemolytic uremic syndrome atypical 6 (AHUS6)
OMIM188040.0002 Diseasep.ALA25THRTHROMBOPHILIA DUE TO THROMBOMODULIN DEFECT
OMIM188040.0005 Diseasep.ALA43THRHEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6
OMIM188040.0008 Diseasep.ALA455VALVARIANT OF UNKNOWN SIGNIFICANCE
OMIM188040.0009 Diseasep.ARG385SERTHROMBOPHILIA DUE TO THROMBOMODULIN DEFECT
OMIM188040.0006 Diseasep.ASP53GLYHEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6
OMIM188040.0001 Diseasep.ASP468TYRRECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
OMIM188040.0007 Diseasep.PRO495SERHEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258