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Results for the Protein: P05106
125987835

ITB3_HUMAN RecName: Full=Integrin beta-3; AltName: Full=Platelet membrane glycoprotein IIIa; Short=GPIIIa; AltName: CD_antigen=CD61; Flags: Precursor

Known Diseases associated with this Protein:
  BLEEDING DISORDER, PLATELET-TYPE 16 (BDPLT16)
  BLEEDING DISORDER, PLATELET-TYPE, 16
  GLANZMANN THROMBASTHENIA
  GLANZMANN THROMBASTHENIA (GT)
42
13
16
2
37
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Default View:

PSI - smart00423
INB - smart00187
Integrin_beta - pfam00362
VWA - smart00327
EGF_2 - pfam07974
Integrin_B_tail - pfam07965
Integrin_b_cyt - pfam08725


Swiss-Prot Protein: P05106
Identical to: NP_000203
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Integrin_betapfam003627.1e-28438461
PSIsmart004239.9e-053176
INBsmart001872.9e-28838461
VWAsmart003270.0002137393
EGF_2pfam079741.5e-06512547
EGF_2pfam079741.7e-08593624
Integrin_B_tailpfam079655.5e-37634718
Integrin_b_cytpfam087252.5e-29742787

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_003997Polymorphismp.ARG662CYSN/A
Swiss-ProtVAR_003994Polymorphismp.ARG169GLNN/A
Swiss-ProtVAR_003999Diseasep.ARG240GLNGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_030479Diseasep.ARG242GLNGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_003996Polymorphismp.ARG515GLNN/A
Swiss-ProtVAR_030473Diseasep.ARG119TRPGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_004000Diseasep.ARG240TRPGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_030475Diseasep.ASP145ASNGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_069924Diseasep.ASP749HISBleeding disorder, platelet-type 16 (BDPLT16)
Swiss-ProtVAR_003998Diseasep.ASP145TYRGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_030480Diseasep.ASP243VALGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_010671Diseasep.CYS568ARGGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_030485Diseasep.CYS586ARGGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_030486Diseasep.CYS601ARGGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_004003Diseasep.CYS586PHEGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_004002Diseasep.CYS400TYRGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_030484Diseasep.CYS532TYRGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_069920Diseasep.CYS64TYRGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_069922Diseasep.GLY247ASPGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_004004Diseasep.GLY598SERGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_010672Diseasep.GLY605SERGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_004001Diseasep.HIS306PROGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_030483Diseasep.ILE330ASNGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_049633Polymorphismp.LEU66ARGN/A
Swiss-ProtVAR_030478Diseasep.LEU222PROGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_030481Diseasep.LEU288PROGlanzmann thrombasthenia (GT)
dbSNPrs5918 Polymorphismp.LEU59PRON/A
Swiss-ProtVAR_010649Diseasep.LEU143TRPGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_069923Diseasep.LYS279METGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_069921Diseasep.MET144ARGGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_030482Diseasep.MET321LEUGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_030476Diseasep.MET150VALGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_003995Polymorphismp.PRO433ALAN/A
Swiss-ProtVAR_010651Diseasep.SER188LEUGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_004005Diseasep.SER778PROGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_030477Polymorphismp.THR166ILEN/A
Swiss-ProtVAR_030474Diseasep.TYR141CYSGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_014178Polymorphismp.VAL453ILEN/A
dbSNPrs115600591 Polymorphismp.VAL14METN/A
OMIM173470.0005 Polymorphismp.ARG143GLNPEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM||THROMBOCYTOPENIA, NEONATAL ALLOIMMUNE, INCLUDED;;||POSTTRANSFUSION PURPURA, INCL
OMIM173470.0001 Diseasep.ARG214GLNGLANZMANN THROMBASTHENIA
OMIM173470.0009 Polymorphismp.ARG489GLNCa/Tu ALLOANTIGEN POLYMORPHISM||THROMBOCYTOPENIA, NEONATAL ALLOIMMUNE, INCLUDED
OMIM173470.0012 Diseasep.ARG724TERGLANZMANN THROMBASTHENIA
OMIM173470.0003 Diseasep.ARG214TRPGLANZMANN THROMBASTHENIA
OMIM173470.0018 Diseasep.ASP723HISBLEEDING DISORDER, PLATELET-TYPE, 16
OMIM173470.0002 Diseasep.ASP119TYRGLANZMANN THROMBASTHENIA
OMIM173470.0010 Diseasep.CYS374TYRGLANZMANN THROMBASTHENIA
OMIM173470.0013 Diseasep.GLU616TERGLANZMANN THROMBASTHENIA
OMIM173470.0017 Diseasep.GLY221ASPGLANZMANN THROMBASTHENIA
OMIM173470.0006 Polymorphismp.LEU33PROPL(A1)/(A2) ALLOANTIGEN POLYMORPHISM||THROMBOCYTOPENIA, NEONATAL ALLOIMMUNE, INCLUDED;;||POSTTRANSFUSION PURPURA, INCLUD
OMIM173470.0020 Diseasep.LEU718PROBLEEDING DISORDER, PLATELET-TYPE, 16
OMIM173470.0015 Diseasep.LEU117TRPGLANZMANN THROMBASTHENIA
OMIM173470.0016 Diseasep.LYS253METGLANZMANN THROMBASTHENIA
OMIM173470.0007 Polymorphismp.PRO407ALAMo ALLOANTIGEN POLYMORPHISM||THROMBOCYTOPENIA, NEONATAL ALLOIMMUNE, INCLUDED
OMIM173470.0004 Diseasep.SER752PROGLANZMANN THROMBASTHENIA



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