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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:
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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_REG-1_likecd035948.8e-0525169
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



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