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Results for the Protein: Q8N8U9
116241270

BMPER_HUMAN RecName: Full=BMP-binding endothelial regulator protein; AltName: Full=Bone morphogenetic protein-binding endothelial cell precursor-derived regulator; AltName: Full=Protein crossveinless-2; Short=hCV2; Flags: Precursor

Known Diseases associated with this Protein:
  DIAPHANOSPONDYLODYSOSTOSIS
  DIAPHANOSPONDYLODYSOSTOSIS (DSD)
4
3
3
2
2
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Default View:

VWC - smart00214
VWC - pfam00093
VWD - smart00216
VWD - pfam00094
C8 - smart00832
C8 - pfam08742
TIL - pfam01826


Swiss-Prot Protein: Q8N8U9
Identical to: NP_597725
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
VWCpfam000930.00011238289
VWCpfam000939.5e-12301357
VWDpfam000942.1e-41364514
TILpfam018263e-17629682
VWCsmart002140.0001850105
VWCsmart002149.8e-11166224
VWCsmart002140.0009238289
VWCsmart002149.7e-07301357
VWDsmart002167e-39355513
C8pfam087421.1e-26553625
C8smart008329.3e-18553625

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_028166Polymorphismp.ARG555TRPN/A
dbSNPrs74734392 Polymorphismp.GLY194SERN/A
dbSNPrs62623441 Polymorphismp.MET158ILEN/A
Swiss-ProtVAR_065823Diseasep.PRO370LEUDiaphanospondylodysostosis (DSD)
OMIM608699.0005 Diseasep.CYS546TERDIAPHANOSPONDYLODYSOSTOSIS
OMIM608699.0001 Diseasep.GLN309TERDIAPHANOSPONDYLODYSOSTOSIS
OMIM608699.0004 Diseasep.PRO370LEUDIAPHANOSPONDYLODYSOSTOSIS



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