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Results for the Protein: P07359
121531

GP1BA_HUMAN RecName: Full=Platelet glycoprotein Ib alpha chain; Short=GP-Ib alpha; Short=GPIb-alpha; Short=GPIbA; Short=Glycoprotein Ibalpha; AltName: Full=Antigen CD42b-alpha; AltName: CD_antigen=CD42b; Contains: RecName: Full=Glycocalicin; Flags: Precursor

Known Diseases associated with this Protein:
  BERNARD-SOULIER SYNDROME (BSS)
  PSEUDO-VON WILLEBRAND DISEASE (VWDP)
8
4
0
0
12
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Default View:

LRRNT - pfam01462
LRRNT - smart00013
LRR - smart00370
LRR_TYP - smart00369
LRRCT - smart00082


Swiss-Prot Protein: P07359
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
LRRNTpfam014623e-081946
LRRNTsmart000133.7e-091951
LRR_TYPsmart003696.2e-06115138
LRRsmart003706.2e-06115138
LRR_TYPsmart003696.9e-05139162
LRRsmart003706.9e-05139162
LRR_TYPsmart003690.00015163186
LRRsmart003700.00015163186
LRRCTsmart000824.2e-22221281

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_011910Polymorphismp.ALA254SERN/A
Swiss-ProtVAR_005258Diseasep.ALA172VALBernard-Soulier syndrome (BSS)
Swiss-ProtVAR_011909Polymorphismp.ARG72HISN/A
Swiss-ProtVAR_005256Diseasep.CYS81ARGBernard-Soulier syndrome (BSS)
Swiss-ProtVAR_005260Diseasep.CYS225SERBernard-Soulier syndrome (BSS)
Swiss-ProtVAR_019657Diseasep.GLY249SERPseudo-von Willebrand disease (VWDP)
Swiss-ProtVAR_005261Diseasep.GLY249VALPseudo-von Willebrand disease (VWDP)
Swiss-ProtVAR_014206Diseasep.LEU73PHEBernard-Soulier syndrome (BSS)
Swiss-ProtVAR_013511Polymorphismp.LEU86PHEN/A
Swiss-ProtVAR_014207Diseasep.LEU145PROBernard-Soulier syndrome (BSS)
Swiss-ProtVAR_005262Diseasep.MET255VALPseudo-von Willebrand disease (VWDP)
Swiss-ProtVAR_005257Polymorphismp.THR161METN/A



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