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Results for the Protein: NP_000543
89191868
VWF

von Willebrand factor preproprotein [Homo sapiens]

Known Diseases associated with this Protein:
  VON WILLEBRAND DISEASE, TYPE 1
  VON WILLEBRAND DISEASE, TYPE 1, INCLUDED
  VON WILLEBRAND DISEASE, TYPE 1, SUSCEPTIBILITY TO
  VON WILLEBRAND DISEASE, TYPE 2A
  VON WILLEBRAND DISEASE, TYPE 2A/IIE
  VON WILLEBRAND DISEASE, TYPE 2B
  VON WILLEBRAND DISEASE, TYPE 2CB
  VON WILLEBRAND DISEASE, TYPE 2M
  VON WILLEBRAND DISEASE, TYPE 2N
  VON WILLEBRAND DISEASE, TYPE 3
  VON WILLEBRAND FACTOR VICENZA
35
14
35
14
0
Tips:
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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_integrin_inverte - cd01476
vWA_collagen_alpha3- - cd01481
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


RefSeq Protein: NP_000543
   Default View:













Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
vWFA_subfamily_ECMcd014502.7e-2812761438
vWFAcd001982e-1614971650
vWFA_subfamily_ECMcd014502.6e-3814971651
vWA_micronemal_protecd014712.4e-0814971650
vWA_collagencd014722.6e-1914971657
vWA_collagen_alpha3-cd014811.2e-1814971654
VWA_integrin_invertecd014763.9e-0614971652
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_outsmart002150.00091829898
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 ↕
dbSNPrs76342212 rs2229446 Polymorphismp.ARG2185GLNN/A
dbSNPrs1800387 Polymorphismp.ASN318LYSN/A
dbSNPrs11063987 Polymorphismp.ASN1435SERN/A
dbSNPrs1800383 Polymorphismp.ASP1472HISN/A
dbSNPrs216321 Polymorphismp.GLN852ARGN/A
dbSNPrs7962217 Polymorphismp.GLY2705ARGN/A
dbSNPrs1800378 Polymorphismp.HIS484ARGN/A
dbSNPrs57950734 Polymorphismp.HIS817GLNN/A
dbSNPrs2228317 Polymorphismp.MET740ILEN/A
dbSNPrs216311 Polymorphismp.THR1381ALAN/A
dbSNPrs1063856 Polymorphismp.THR789ALAN/A
dbSNPrs78353028 Polymorphismp.THR2666METN/A
dbSNPrs1800377 Polymorphismp.VAL471ILEN/A
dbSNPrs1800385 Polymorphismp.VAL1565LEUN/A
OMIM613160.0006 Diseasep.ARG1308CYSVON WILLEBRAND DISEASE, TYPE 2B
OMIM613160.0008 Diseasep.ARG1341GLNVON WILLEBRAND DISEASE, TYPE 2B
OMIM613160.0013 Diseasep.ARG854GLNVON WILLEBRAND DISEASE, TYPE 2N||VON WILLEBRAND DISEASE, TYPE 1, INCLUDED
OMIM613160.0027 Diseasep.ARG1205HISVON WILLEBRAND DISEASE, TYPE 1||VON WILLEBRAND FACTOR VICENZA
OMIM613160.0041 Diseasep.ARG760HISVON WILLEBRAND DISEASE, TYPE 1
OMIM613160.0015 Diseasep.ARG1659TERVON WILLEBRAND DISEASE, TYPE 3||VON WILLEBRAND DISEASE, TYPE 1, INCLUDED
OMIM613160.0016 Diseasep.ARG1852TERVON WILLEBRAND DISEASE, TYPE 3||VON WILLEBRAND DISEASE, TYPE 1, INCLUDED
OMIM613160.0017 Diseasep.ARG2635TERVON WILLEBRAND DISEASE, TYPE 3
OMIM613160.0005 Diseasep.ARG1306TRPVON WILLEBRAND DISEASE, TYPE 2B
OMIM613160.0002 Diseasep.ARG1597TRPVON WILLEBRAND DISEASE, TYPE 2A
OMIM613160.0012 Diseasep.ARG816TRPVON WILLEBRAND DISEASE, TYPE 2N
OMIM613160.0037 Diseasep.ASN528SERVON WILLEBRAND DISEASE, TYPE 2A
OMIM613160.0036 Diseasep.CYS1060ARGVON WILLEBRAND DISEASE, TYPE 2N
OMIM613160.0028 Diseasep.CYS1149ARGVON WILLEBRAND DISEASE, TYPE 1
OMIM613160.0019 Diseasep.CYS1272ARGVON WILLEBRAND DISEASE, TYPE 2A
OMIM613160.0024 Diseasep.CYS2773ARGVON WILLEBRAND DISEASE, TYPE 2A
OMIM613160.0034 Diseasep.CYS2362PHEVON WILLEBRAND DISEASE, TYPE 3
OMIM613160.0032 Diseasep.CYS804PHEVON WILLEBRAND DISEASE, TYPE 2N
OMIM613160.0023 Diseasep.GLY550ARGVON WILLEBRAND DISEASE, TYPE 2A
OMIM613160.0018 Diseasep.GLY1324SERVON WILLEBRAND DISEASE, TYPE 2M
OMIM613160.0001 Diseasep.ILE1628THRVON WILLEBRAND DISEASE, TYPE 2A
OMIM613160.0022 Diseasep.PHE1514CYSVON WILLEBRAND DISEASE, TYPE 2A
OMIM613160.0042 Diseasep.SER1783ALAVON WILLEBRAND DISEASE, TYPE 2CB
OMIM613160.0030 Diseasep.SER1285PHEVON WILLEBRAND DISEASE, TYPE 2M
OMIM613160.0009 Diseasep.SER1613PROVON WILLEBRAND DISEASE, TYPE 2A
OMIM613160.0011 Diseasep.THR791METVON WILLEBRAND DISEASE, TYPE 2N
OMIM613160.0004 Diseasep.TRP1313CYSVON WILLEBRAND DISEASE, TYPE 2B
OMIM613160.0040 Diseasep.TRP1745CYSVON WILLEBRAND DISEASE, TYPE 2CB
OMIM613160.0039 Diseasep.TYR1146CYSVON WILLEBRAND DISEASE, TYPE 2A/IIE
OMIM613160.0029 Diseasep.TYR1584CYSVON WILLEBRAND DISEASE, TYPE 1, SUSCEPTIBILITY TO
OMIM613160.0031 Diseasep.TYR795CYSVON WILLEBRAND DISEASE, TYPE 2N
OMIM613160.0035 Diseasep.TYR357TERVON WILLEBRAND DISEASE, TYPE 2N
OMIM613160.0003 Diseasep.VAL1607ASPVON WILLEBRAND DISEASE, TYPE 2A
OMIM613160.0020 Diseasep.VAL1314LEUVON WILLEBRAND DISEASE, TYPE 2B
OMIM613160.0007 Diseasep.VAL1316METVON WILLEBRAND DISEASE, TYPE 2B



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