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Results for the Protein: P05107
124056465

ITB2_HUMAN RecName: Full=Integrin beta-2; AltName: Full=Cell surface adhesion glycoproteins LFA-1/CR3/p150,95 subunit beta; AltName: Full=Complement receptor C3 subunit beta; AltName: CD_antigen=CD18; Flags: Precursor

Known Diseases associated with this Protein:
  LEUKOCYTE ADHESION DEFICIENCY
  LEUKOCYTE ADHESION DEFICIENCY 1 (LAD1)
26
1
11
0
16
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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: P05107
Identical to: NP_001120963, NP_000202
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Integrin_betapfam003623.1e-26032447
PSIsmart004232.5e-072574
INBsmart001874.1e-26732447
VWAsmart003270.00052126357
EGF_2pfam079740.00084582612
Integrin_B_tailpfam079651.4e-32622700
Integrin_b_cytpfam087259.3e-23724768

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_065662Diseasep.ALA239THRLeukocyte adhesion deficiency 1 (LAD1)
Swiss-ProtVAR_003992Diseasep.ARG593CYSLeukocyte adhesion deficiency 1 (LAD1)
Swiss-ProtVAR_003991Diseasep.ARG586TRPLeukocyte adhesion deficiency 1 (LAD1)
Swiss-ProtVAR_003990Diseasep.ASN351SERLeukocyte adhesion deficiency 1 (LAD1)
Swiss-ProtVAR_003984Diseasep.ASP128ASNLeukocyte adhesion deficiency 1 (LAD1)
Swiss-ProtVAR_065661Diseasep.ASP128TYRLeukocyte adhesion deficiency 1 (LAD1)
Swiss-ProtVAR_065663Diseasep.ASP300VALLeukocyte adhesion deficiency 1 (LAD1)
Swiss-ProtVAR_030035Polymorphismp.GLN354HISN/A
Swiss-ProtVAR_065664Diseasep.GLY716ALALeukocyte adhesion deficiency 1 (LAD1)
Swiss-ProtVAR_003986Diseasep.GLY169ARGLeukocyte adhesion deficiency 1 (LAD1)
Swiss-ProtVAR_013403Diseasep.GLY273ARGLeukocyte adhesion deficiency 1 (LAD1)
Swiss-ProtVAR_003989Diseasep.GLY284SERLeukocyte adhesion deficiency 1 (LAD1)
Swiss-ProtVAR_003985Diseasep.LEU149PROLeukocyte adhesion deficiency 1 (LAD1)
Swiss-ProtVAR_003988Diseasep.LYS196THRLeukocyte adhesion deficiency 1 (LAD1)
Swiss-ProtVAR_003987Diseasep.PRO178LEULeukocyte adhesion deficiency 1 (LAD1)
Swiss-ProtVAR_013402Diseasep.SER138PROLeukocyte adhesion deficiency 1 (LAD1)
OMIM600065.0001 Diseasep.ARG593CYSLEUKOCYTE ADHESION DEFICIENCY
OMIM600065.0006 Diseasep.ARG586TRPLEUKOCYTE ADHESION DEFICIENCY
OMIM600065.0008 Diseasep.ASN351SERLEUKOCYTE ADHESION DEFICIENCY
OMIM600065.0010 Diseasep.ASP128ASNLEUKOCYTE ADHESION DEFICIENCY
OMIM600065.0004 Diseasep.GLY169ARGLEUKOCYTE ADHESION DEFICIENCY
OMIM600065.0014 Diseasep.GLY273ARGLEUKOCYTE ADHESION DEFICIENCY
OMIM600065.0012 Diseasep.GLY284SERLEUKOCYTE ADHESION DEFICIENCY
OMIM600065.0003 Diseasep.LEU149PROLEUKOCYTE ADHESION DEFICIENCY
OMIM600065.0002 Diseasep.LYS196THRLEUKOCYTE ADHESION DEFICIENCY
OMIM600065.0009 Diseasep.PRO178LEULEUKOCYTE ADHESION DEFICIENCY
OMIM600065.0013 Diseasep.SER138PROLEUKOCYTE ADHESION DEFICIENCY



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