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Results for the Protein: P04275
317373549
VWF

VWF_HUMAN RecName: Full=von Willebrand factor; Short=vWF; Contains: RecName: Full=von Willebrand antigen 2; AltName: Full=von Willebrand antigen II; Flags: Precursor

Known Diseases associated with this Protein:
  VON WILLEBRAND DISEASE 1 (VWD1)
  VON WILLEBRAND DISEASE 2 (VWD2)
  VON WILLEBRAND DISEASE 3 (VWD3)
43
17
0
0
60
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

VWD - smart00216
VWD - pfam00094
C8 - pfam08742
C8 - smart00832
TIL - pfam01826
VWC_out - smart00215
VWA - smart00327
vWFA_subfamily_ECM - cd01450
vWFA - cd00198
VWA - pfam00092
vWA_micronemal_prote - cd01471
vWA_collagen_alpha3- - cd01481
VWA_integrin_inverte - cd01476
vWA_collagen - cd01472
vWA_collagen_alphaI- - cd01482
vWA_collagen_alpha_1 - cd01480
vWA_Matrilin - cd01475
vWA_integrins_alpha_ - cd01469
vWA_C3HC4_type - cd01466
VWC - pfam00093
VWC - smart00214
CT - smart00041


Swiss-Prot Protein: P04275
   Default View:













Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
vWFAcd001982.9e-1012761439
vWFA_subfamily_ECMcd014502.7e-2812761438
vWFAcd001982e-1614971650
vWFA_subfamily_ECMcd014502.6e-3814971651
vWA_micronemal_protecd014712.4e-0814971650
vWA_collagencd014722.6e-1914971657
VWA_integrin_invertecd014763.9e-0614971652
vWA_collagen_alpha3-cd014811.2e-1814971654
vWA_collagen_alphaI-cd014824.6e-1114981654
vWA_Matrilincd014751.1e-0816881917
vWA_collagen_alpha_1cd014805.2e-0516881862
vWFAcd001984.6e-2016901849
vWFA_subfamily_ECMcd014501.1e-3916901849
vWA_C3HC4_typecd014660.0005916901850
vWA_integrins_alpha_cd014691.1e-0916901854
vWA_collagencd014725.2e-1216901854
VWA_integrin_invertecd014767.3e-1116901850
vWA_collagen_alphaI-cd014822.8e-0916911857
VWDpfam000945.7e-3535179
TILpfam018263.2e-17295348
VWDpfam000945e-54388541
TILpfam018263.7e-18652707
TILpfam018262.1e-05776827
VWDpfam000943.2e-428671013
TILpfam018265.3e-0811421196
VWApfam000921.1e-3012771453
VWApfam000921.3e-4314981664
VWApfam000921.7e-3816911864
VWDpfam000942.6e-3919502102
TILpfam018260.0007922032254
VWCpfam000933.3e-2422572325
VWCpfam000931.4e-2324312494
VWCpfam000933.6e-1925822644
VWDsmart002166.2e-4020178
C8pfam087421.7e-27218292
C8smart008324.6e-26218292
VWC_outsmart002157.4e-08350418
VWDsmart002164.6e-58377540
C8pfam087423.6e-31577649
C8smart008323.5e-26577649
VWC_outsmart002150.00088829898
VWDsmart002168.2e-458561012
C8pfam087421.6e-3110531127
C8smart008324.2e-3510531127
VWAsmart003271.7e-2712751458
VWAsmart003277.4e-3014961669
VWAsmart003271e-3516891872
VWDsmart002169.4e-4819382101
C8pfam087421.7e-2621322200
C8smart008322.7e-1821322200
VWCsmart002146.9e-1922572325
VWCsmart002141.9e-2224312494
VWCsmart002141e-1525822644
CTsmart000419.3e-3527272812

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_057026Polymorphismp.ALA2178SERN/A
Swiss-ProtVAR_005807Diseasep.ALA1461VALVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_005795Diseasep.ARG1308CYSVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_005802Diseasep.ARG1374CYSVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_005801Diseasep.ARG1341GLNVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_005812Diseasep.ARG1597GLNVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_057027Polymorphismp.ARG2185GLNN/A
Swiss-ProtVAR_005789Diseasep.ARG854GLNVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_005811Diseasep.ARG1597GLYVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_005803Diseasep.ARG1374HISVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_005805Polymorphismp.ARG1399HISN/A
Swiss-ProtVAR_005794Diseasep.ARG1306TRPVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_005813Diseasep.ARG1597TRPVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_010242Diseasep.ARG273TRPVon Willebrand disease 3 (VWD3)
Swiss-ProtVAR_005787Diseasep.ARG816TRPVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_005790Polymorphismp.ASN857ASPN/A
Swiss-ProtVAR_057023Polymorphismp.ASN318LYSN/A
Swiss-ProtVAR_005783Diseasep.ASN528SERVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_009144Diseasep.ASN2546TYRVon Willebrand disease 3 (VWD3)
Swiss-ProtVAR_029656Polymorphismp.ASP1472HISN/A
Swiss-ProtVAR_028446Diseasep.CYS1060ARGVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_064925Diseasep.CYS1149ARGVon Willebrand disease 1 (VWD1)
Swiss-ProtVAR_005793Diseasep.CYS1272ARGVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_005822Diseasep.CYS2773ARGVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_067340Diseasep.CYS1272PHEVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_009143Diseasep.CYS2362PHEVon Willebrand disease 3 (VWD3)
Swiss-ProtVAR_005821Diseasep.CYS2739TYRVon Willebrand disease 3 (VWD3)
Swiss-ProtVAR_009141Diseasep.CYS788TYRVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_005788Polymorphismp.GLN852ARGN/A
Swiss-ProtVAR_005818Diseasep.GLU1638LYSVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_005815Diseasep.GLY1609ARGVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_057028Polymorphismp.GLY2705ARGN/A
Swiss-ProtVAR_005784Diseasep.GLY550ARGVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_005800Diseasep.GLY1324SERVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_024553Polymorphismp.HIS484ARGN/A
Swiss-ProtVAR_005792Diseasep.HIS1268ASPVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_005817Diseasep.ILE1628THRVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_005809Diseasep.LEU1540PROVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_005806Diseasep.LEU1460VALVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_057024Polymorphismp.MET740ILEN/A
Swiss-ProtVAR_005808Diseasep.PHE1514CYSVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_057025Polymorphismp.PHE885SERN/A
Swiss-ProtVAR_005791Diseasep.PRO1266LEUVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_005819Diseasep.PRO1648SERVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_009142Diseasep.PRO2063SERVon Willebrand disease 3 (VWD3)
Swiss-ProtVAR_005816Diseasep.SER1613PROVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_005804Polymorphismp.THR1381ALAN/A
Swiss-ProtVAR_005785Polymorphismp.THR789ALAN/A
Swiss-ProtVAR_005786Diseasep.THR791METVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_005796Diseasep.TRP1313CYSVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_005782Diseasep.TRP377CYSVon Willebrand disease 3 (VWD3)
Swiss-ProtVAR_036276Polymorphismp.TYR1570CYSN/A
Swiss-ProtVAR_005810Polymorphismp.TYR1584CYSN/A
Swiss-ProtVAR_005814Diseasep.VAL1607ASPVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_005820Diseasep.VAL1665GLUVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_060591Polymorphismp.VAL471ILEN/A
Swiss-ProtVAR_005797Diseasep.VAL1314LEUVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_005799Diseasep.VAL1318LEUVon Willebrand disease 2 (VWD2)
Swiss-ProtVAR_014630Polymorphismp.VAL1565LEUN/A
Swiss-ProtVAR_005798Diseasep.VAL1316METVon Willebrand disease 2 (VWD2)



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