Results for the protein: P08514

Results for the Protein: P08514

226694183

3674

ITGA2B

NCBI, UniProt

ITA2B_HUMAN RecName: Full=Integrin alpha-IIb; AltName: Full=GPalpha IIb; Short=GPIIb; AltName: Full=Platelet membrane glycoprotein IIb; AltName: CD_antigen=CD41; Contains: RecName: Full=Integrin alpha-IIb heavy chain; Contains: RecName: Full=Integrin alpha-IIb light chain, form 1; Contains: RecName: Full=Integrin alpha-IIb light chain, form 2; Flags: Precursor

Known Diseases associated with this Protein:
  BAK PLATELET-SPECIFIC ANTIGEN
  BLEEDING DISORDER, PLATELET-TYPE 16 (BDPLT16)
  BLEEDING DISORDER, PLATELET-TYPE, 16
  GLANZMANN THROMBASTHENIA
  GLANZMANN THROMBASTHENIA (GT)

45

6

12

1

38

Tips:

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Default View: Int_alpha - smart00191 FG-GAP - pfam01839 Integrin_alpha2 - pfam08441 Integrin_alpha - pfam00357	Swiss-Prot Protein: P08514 Identical to: NP_000410 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
FG-GAP	pfam01839	1.3e-08	387	423
FG-GAP	pfam01839	1.8e-05	448	479
Integrin_alpha	pfam00357	3.6e-05	1020	1034
Int_alpha	smart00191	9.5e-12	46	103
Int_alpha	smart00191	5.3e-06	262	312
Int_alpha	smart00191	2.1e-16	316	377
Int_alpha	smart00191	5.3e-16	383	439
Int_alpha	smart00191	2.3e-07	444	495
Integrin_alpha2	pfam08441	1e-151	481	921

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_030459	Disease	p.ALA581ASP	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_030467	Polymorphism	p.ALA989THR	N/A
Swiss-Prot	VAR_030446	Disease	p.ALA139VAL	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_030468	Disease	p.ARG1026GLN	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_003980	Disease	p.ARG358HIS	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_030463	Disease	p.ARG755PRO	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_069919	Disease	p.ARG1026TRP	Bleeding disorder, platelet-type 16 (BDPLT16)
Swiss-Prot	VAR_030461	Disease	p.CYS705ARG	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_030447	Disease	p.CYS161TRP	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_003982	Disease	p.GLN778PRO	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_009888	Disease	p.GLU355LYS	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_054820	Polymorphism	p.GLY313ALA	N/A
Swiss-Prot	VAR_030457	Disease	p.GLY412ARG	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_003979	Disease	p.GLY273ASP	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_030455	Disease	p.GLY380ASP	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_003981	Disease	p.GLY449ASP	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_030453	Disease	p.GLY267GLU	Glanzmann thrombasthenia (GT)
dbSNP	rs5911	Polymorphism	p.ILE874SER	N/A
Swiss-Prot	VAR_030456	Disease	p.ILE405THR	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_030460	Disease	p.ILE596THR	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_030451	Disease	p.LEU214PRO	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_030464	Disease	p.LEU847PRO	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_030445	Disease	p.LEU86PRO	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_030462	Disease	p.LEU752VAL	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_030449	Disease	p.PHE202CYS	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_030452	Disease	p.PHE222LEU	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_009887	Disease	p.PHE320SER	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_009885	Disease	p.PRO176ALA	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_009886	Disease	p.PRO176LEU	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_030465	Disease	p.PRO943LEU	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_069918	Disease	p.SER957LEU	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_030450	Disease	p.THR207ILE	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_014176	Polymorphism	p.THR40ILE	N/A
Swiss-Prot	VAR_014177	Polymorphism	p.TYR968ASN	N/A
Swiss-Prot	VAR_030448	Disease	p.TYR174HIS	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_054821	Polymorphism	p.VAL649LEU	N/A
Swiss-Prot	VAR_030466	Disease	p.VAL982MET	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_030454	Disease	p.VAL329PHE	Glanzmann thrombasthenia (GT)
Swiss-Prot	VAR_069917	Disease	p.VAL934PHE	Glanzmann thrombasthenia (GT)
OMIM	607759.0017	Disease	p.ARG995GLN	BLEEDING DISORDER, PLATELET-TYPE, 16
OMIM	607759.0009	Disease	p.ARG327HIS	GLANZMANN THROMBASTHENIA
OMIM	607759.0005	Disease	p.ARG584TER	GLANZMANN THROMBASTHENIA
OMIM	607759.0018	Disease	p.ARG995TRP	BLEEDING DISORDER, PLATELET-TYPE, 16
OMIM	607759.0016	Disease	p.GLN595HIS	GLANZMANN THROMBASTHENIA
OMIM	607759.0012	Disease	p.GLU324LYS	GLANZMANN THROMBASTHENIA
OMIM	607759.0007	Disease	p.GLY273ASP	GLANZMANN THROMBASTHENIA
OMIM	607759.0010	Disease	p.GLY418ASP	GLANZMANN THROMBASTHENIA
OMIM	607759.0004	Disease	p.ILE843SER	BAK PLATELET-SPECIFIC ANTIGEN
OMIM	607759.0013	Disease	p.ILE565THR	GLANZMANN THROMBASTHENIA
OMIM	607759.0014	Disease	p.LEU214PRO	GLANZMANN THROMBASTHENIA
OMIM	607759.0015	Disease	p.SER926LEU	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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