Results for the protein: P05106

Results for the Protein: P05106

125987835

3690

ITGB3

NCBI, UniProt

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

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

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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 ↕
PSI	smart00423	9.9e-05	31	76
INB	smart00187	2.9e-288	38	461
VWA	smart00327	0.0002	137	393
EGF_2	pfam07974	1.5e-06	512	547
EGF_2	pfam07974	1.7e-08	593	624
Integrin_B_tail	pfam07965	5.5e-37	634	718
Integrin_b_cyt	pfam08725	2.5e-29	742	787

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_003997	Polymorphism	p.ARG662CYS	N/A
Swiss-Prot	VAR_003994	Polymorphism	p.ARG169GLN	N/A
Swiss-Prot	VAR_003999	Disease	p.ARG240GLN	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_030479	Disease	p.ARG242GLN	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_003996	Polymorphism	p.ARG515GLN	N/A
Swiss-Prot	VAR_030473	Disease	p.ARG119TRP	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_004000	Disease	p.ARG240TRP	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_030475	Disease	p.ASP145ASN	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_069924	Disease	p.ASP749HIS	Bleeding disorder, platelet-type 16 (BDPLT16)
Swiss-Prot	VAR_003998	Disease	p.ASP145TYR	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_030480	Disease	p.ASP243VAL	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_010671	Disease	p.CYS568ARG	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_030485	Disease	p.CYS586ARG	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_030486	Disease	p.CYS601ARG	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_004003	Disease	p.CYS586PHE	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_004002	Disease	p.CYS400TYR	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_030484	Disease	p.CYS532TYR	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_069920	Disease	p.CYS64TYR	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_069922	Disease	p.GLY247ASP	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_004004	Disease	p.GLY598SER	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_010672	Disease	p.GLY605SER	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_004001	Disease	p.HIS306PRO	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_030483	Disease	p.ILE330ASN	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_049633	Polymorphism	p.LEU66ARG	N/A
Swiss-Prot	VAR_030478	Disease	p.LEU222PRO	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_030481	Disease	p.LEU288PRO	Glanzmann thrombasthenia (GT)
dbSNP	rs5918	Polymorphism	p.LEU59PRO	N/A
Swiss-Prot	VAR_010649	Disease	p.LEU143TRP	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_069923	Disease	p.LYS279MET	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_069921	Disease	p.MET144ARG	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_030482	Disease	p.MET321LEU	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_030476	Disease	p.MET150VAL	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_003995	Polymorphism	p.PRO433ALA	N/A
Swiss-Prot	VAR_010651	Disease	p.SER188LEU	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_004005	Disease	p.SER778PRO	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_030477	Polymorphism	p.THR166ILE	N/A
Swiss-Prot	VAR_030474	Disease	p.TYR141CYS	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_014178	Polymorphism	p.VAL453ILE	N/A
dbSNP	rs115600591	Polymorphism	p.VAL14MET	N/A
OMIM	173470.0005	Polymorphism	p.ARG143GLN	PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM\|\|THROMBOCYTOPENIA, NEONATAL ALLOIMMUNE, INCLUDED;;\|\|POSTTRANSFUSION PURPURA, INCL
OMIM	173470.0001	Disease	p.ARG214GLN	GLANZMANN THROMBASTHENIA
OMIM	173470.0009	Polymorphism	p.ARG489GLN	Ca/Tu ALLOANTIGEN POLYMORPHISM\|\|THROMBOCYTOPENIA, NEONATAL ALLOIMMUNE, INCLUDED
OMIM	173470.0012	Disease	p.ARG724TER	GLANZMANN THROMBASTHENIA
OMIM	173470.0003	Disease	p.ARG214TRP	GLANZMANN THROMBASTHENIA
OMIM	173470.0018	Disease	p.ASP723HIS	BLEEDING DISORDER, PLATELET-TYPE, 16
OMIM	173470.0002	Disease	p.ASP119TYR	GLANZMANN THROMBASTHENIA
OMIM	173470.0010	Disease	p.CYS374TYR	GLANZMANN THROMBASTHENIA
OMIM	173470.0013	Disease	p.GLU616TER	GLANZMANN THROMBASTHENIA
OMIM	173470.0017	Disease	p.GLY221ASP	GLANZMANN THROMBASTHENIA
OMIM	173470.0006	Polymorphism	p.LEU33PRO	PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM\|\|THROMBOCYTOPENIA, NEONATAL ALLOIMMUNE, INCLUDED;;\|\|POSTTRANSFUSION PURPURA, INCLUD
OMIM	173470.0020	Disease	p.LEU718PRO	BLEEDING DISORDER, PLATELET-TYPE, 16
OMIM	173470.0015	Disease	p.LEU117TRP	GLANZMANN THROMBASTHENIA
OMIM	173470.0016	Disease	p.LYS253MET	GLANZMANN THROMBASTHENIA
OMIM	173470.0007	Polymorphism	p.PRO407ALA	Mo ALLOANTIGEN POLYMORPHISM\|\|THROMBOCYTOPENIA, NEONATAL ALLOIMMUNE, INCLUDED
OMIM	173470.0004	Disease	p.SER752PRO	GLANZMANN THROMBASTHENIA

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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