Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: P08514
226694183

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

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



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-GAPpfam018392.2e-10320362
FG-GAPpfam018391.3e-08387423
FG-GAPpfam018391.8e-05448479
Integrin_alphapfam003573.6e-0510201034
Int_alphasmart001919.5e-1246103
Int_alphasmart001915.3e-06262312
Int_alphasmart001912.1e-16316377
Int_alphasmart001915.3e-16383439
Int_alphasmart001912.3e-07444495
Integrin_alpha2pfam084411e-151481921

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_030459Diseasep.ALA581ASPGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_030467Polymorphismp.ALA989THRN/A
Swiss-ProtVAR_030446Diseasep.ALA139VALGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_030468Diseasep.ARG1026GLNGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_003980Diseasep.ARG358HISGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_030463Diseasep.ARG755PROGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_069919Diseasep.ARG1026TRPBleeding disorder, platelet-type 16 (BDPLT16)
Swiss-ProtVAR_030461Diseasep.CYS705ARGGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_030447Diseasep.CYS161TRPGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_003982Diseasep.GLN778PROGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_009888Diseasep.GLU355LYSGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_054820Polymorphismp.GLY313ALAN/A
Swiss-ProtVAR_030457Diseasep.GLY412ARGGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_003979Diseasep.GLY273ASPGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_030455Diseasep.GLY380ASPGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_003981Diseasep.GLY449ASPGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_030453Diseasep.GLY267GLUGlanzmann thrombasthenia (GT)
dbSNPrs5911 Polymorphismp.ILE874SERN/A
Swiss-ProtVAR_030456Diseasep.ILE405THRGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_030460Diseasep.ILE596THRGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_030451Diseasep.LEU214PROGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_030464Diseasep.LEU847PROGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_030445Diseasep.LEU86PROGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_030462Diseasep.LEU752VALGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_030449Diseasep.PHE202CYSGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_030452Diseasep.PHE222LEUGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_009887Diseasep.PHE320SERGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_009885Diseasep.PRO176ALAGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_009886Diseasep.PRO176LEUGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_030465Diseasep.PRO943LEUGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_069918Diseasep.SER957LEUGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_030450Diseasep.THR207ILEGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_014176Polymorphismp.THR40ILEN/A
Swiss-ProtVAR_014177Polymorphismp.TYR968ASNN/A
Swiss-ProtVAR_030448Diseasep.TYR174HISGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_054821Polymorphismp.VAL649LEUN/A
Swiss-ProtVAR_030466Diseasep.VAL982METGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_030454Diseasep.VAL329PHEGlanzmann thrombasthenia (GT)
Swiss-ProtVAR_069917Diseasep.VAL934PHEGlanzmann thrombasthenia (GT)
OMIM607759.0017 Diseasep.ARG995GLNBLEEDING DISORDER, PLATELET-TYPE, 16
OMIM607759.0009 Diseasep.ARG327HISGLANZMANN THROMBASTHENIA
OMIM607759.0005 Diseasep.ARG584TERGLANZMANN THROMBASTHENIA
OMIM607759.0018 Diseasep.ARG995TRPBLEEDING DISORDER, PLATELET-TYPE, 16
OMIM607759.0016 Diseasep.GLN595HISGLANZMANN THROMBASTHENIA
OMIM607759.0012 Diseasep.GLU324LYSGLANZMANN THROMBASTHENIA
OMIM607759.0007 Diseasep.GLY273ASPGLANZMANN THROMBASTHENIA
OMIM607759.0010 Diseasep.GLY418ASPGLANZMANN THROMBASTHENIA
OMIM607759.0004 Diseasep.ILE843SERBAK PLATELET-SPECIFIC ANTIGEN
OMIM607759.0013 Diseasep.ILE565THRGLANZMANN THROMBASTHENIA
OMIM607759.0014 Diseasep.LEU214PROGLANZMANN THROMBASTHENIA
OMIM607759.0015 Diseasep.SER926LEUGLANZMANN THROMBASTHENIA



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258