Results for the protein: P05107

Results for the Protein: P05107

124056465

3689

ITGB2

NCBI, UniProt

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

Tips:

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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 ↕
PSI	smart00423	2.5e-07	25	74
INB	smart00187	4.1e-267	32	447
VWA	smart00327	0.00052	126	357
EGF_2	pfam07974	0.00084	582	612
Integrin_B_tail	pfam07965	1.4e-32	622	700
Integrin_b_cyt	pfam08725	9.3e-23	724	768

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_065662	Disease	p.ALA239THR	Leukocyte adhesion deficiency 1 (LAD1)
Swiss-Prot	VAR_003992	Disease	p.ARG593CYS	Leukocyte adhesion deficiency 1 (LAD1)
Swiss-Prot	VAR_003991	Disease	p.ARG586TRP	Leukocyte adhesion deficiency 1 (LAD1)
Swiss-Prot	VAR_003990	Disease	p.ASN351SER	Leukocyte adhesion deficiency 1 (LAD1)
Swiss-Prot	VAR_003984	Disease	p.ASP128ASN	Leukocyte adhesion deficiency 1 (LAD1)
Swiss-Prot	VAR_065661	Disease	p.ASP128TYR	Leukocyte adhesion deficiency 1 (LAD1)
Swiss-Prot	VAR_065663	Disease	p.ASP300VAL	Leukocyte adhesion deficiency 1 (LAD1)
Swiss-Prot	VAR_030035	Polymorphism	p.GLN354HIS	N/A
Swiss-Prot	VAR_065664	Disease	p.GLY716ALA	Leukocyte adhesion deficiency 1 (LAD1)
Swiss-Prot	VAR_003986	Disease	p.GLY169ARG	Leukocyte adhesion deficiency 1 (LAD1)
Swiss-Prot	VAR_013403	Disease	p.GLY273ARG	Leukocyte adhesion deficiency 1 (LAD1)
Swiss-Prot	VAR_003989	Disease	p.GLY284SER	Leukocyte adhesion deficiency 1 (LAD1)
Swiss-Prot	VAR_003985	Disease	p.LEU149PRO	Leukocyte adhesion deficiency 1 (LAD1)
Swiss-Prot	VAR_003988	Disease	p.LYS196THR	Leukocyte adhesion deficiency 1 (LAD1)
Swiss-Prot	VAR_003987	Disease	p.PRO178LEU	Leukocyte adhesion deficiency 1 (LAD1)
Swiss-Prot	VAR_013402	Disease	p.SER138PRO	Leukocyte adhesion deficiency 1 (LAD1)
OMIM	600065.0001	Disease	p.ARG593CYS	LEUKOCYTE ADHESION DEFICIENCY
OMIM	600065.0006	Disease	p.ARG586TRP	LEUKOCYTE ADHESION DEFICIENCY
OMIM	600065.0008	Disease	p.ASN351SER	LEUKOCYTE ADHESION DEFICIENCY
OMIM	600065.0010	Disease	p.ASP128ASN	LEUKOCYTE ADHESION DEFICIENCY
OMIM	600065.0004	Disease	p.GLY169ARG	LEUKOCYTE ADHESION DEFICIENCY
OMIM	600065.0014	Disease	p.GLY273ARG	LEUKOCYTE ADHESION DEFICIENCY
OMIM	600065.0012	Disease	p.GLY284SER	LEUKOCYTE ADHESION DEFICIENCY
OMIM	600065.0003	Disease	p.LEU149PRO	LEUKOCYTE ADHESION DEFICIENCY
OMIM	600065.0002	Disease	p.LYS196THR	LEUKOCYTE ADHESION DEFICIENCY
OMIM	600065.0009	Disease	p.PRO178LEU	LEUKOCYTE ADHESION DEFICIENCY
OMIM	600065.0013	Disease	p.SER138PRO	LEUKOCYTE ADHESION DEFICIENCY

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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