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Results for the Protein: P16442
114949
28
ABO

BGAT_HUMAN RecName: Full=Histo-blood group ABO system transferase; AltName: Full=Fucosylglycoprotein 3-alpha-galactosyltransferase; AltName: Full=Fucosylglycoprotein alpha-N-acetylgalactosaminyltransferase; AltName: Full=Glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase; AltName: Full=Glycoprotein-fucosylgalactoside alpha-galactosyltransferase; AltName: Full=Histo-blood group A transferase; Short=A transferase; AltName: Full=Histo-blood group B transferase; Short=B transferase; AltName: Full=NAGAT; Contains: RecName: Full=Fucosylglycoprotein alpha-N-acetylgalactosaminyltransferase soluble form

Known Diseases associated with this Protein:
  BLOOD GROUP B(A)
1
37
1
15
22
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Default View:

Glyco_transf_6 - pfam03414
Glyco_transf_6 - cd02515


Swiss-Prot Protein: P16442
Identical to: NP_065202
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Glyco_transf_6cd025154.2e-20881352
Glyco_transf_6pfam034143.3e-25417353

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_019152Polymorphismp.ARG199CYSN/A
Swiss-ProtVAR_003410Polymorphismp.ARG176GLYN/A
Swiss-ProtVAR_036745Polymorphismp.ARG352GLYN/A
Swiss-ProtVAR_019151Polymorphismp.ARG161HISN/A
dbSNPrs8176742 Polymorphismp.ARG227HISN/A
Swiss-ProtVAR_019149Polymorphismp.ARG63HISN/A
dbSNPrs1053878 Polymorphismp.ARG156TRPN/A
Swiss-ProtVAR_036739Polymorphismp.ARG198TRPN/A
Swiss-ProtVAR_003414Polymorphismp.ARG352TRPN/A
Swiss-ProtVAR_036743Polymorphismp.ASP291ASNN/A
dbSNPrs7853989 Polymorphismp.CYS175TRPN/A
dbSNPrs8176749 Polymorphismp.CYS310TYRN/A
Swiss-ProtVAR_036741Polymorphismp.GLU223ASPN/A
Swiss-ProtVAR_003413Polymorphismp.GLY268ALAN/A
Swiss-ProtVAR_055227Polymorphismp.GLY230ARGN/A
dbSNPrs8176747 Polymorphismp.GLY268ARGN/A
dbSNPrs8176696 Polymorphismp.GLY35ARGN/A
Swiss-ProtVAR_003411Polymorphismp.GLY235SERN/A
dbSNPrs8176720 Polymorphismp.HIS99ARGN/A
dbSNPrs549446 Polymorphismp.HIS63LEUN/A
Swiss-ProtVAR_003412Polymorphismp.LEU266METN/A
Swiss-ProtVAR_036744Polymorphismp.LYS346METN/A
Swiss-ProtVAR_036740Polymorphismp.MET214ARGN/A
Swiss-ProtVAR_036742Polymorphismp.MET288ARGN/A
Swiss-ProtVAR_019153Polymorphismp.PHE216ILEN/A
dbSNPrs688976 Polymorphismp.PHE36VALN/A
Swiss-ProtVAR_003409Polymorphismp.PRO156LEUN/A
dbSNPrs8176745 Polymorphismp.PRO257LEUN/A
Swiss-ProtVAR_019150Polymorphismp.PRO74SERN/A
dbSNPrs8176740 Polymorphismp.SER215ARGN/A
dbSNPrs512770 Polymorphismp.SER74PRON/A
dbSNPrs8176744 Polymorphismp.SER256TYRN/A
dbSNPrs8176721 Polymorphismp.THR106METN/A
Swiss-ProtVAR_036738Polymorphismp.THR163METN/A
dbSNPrs8176741 Polymorphismp.THR219METN/A
Swiss-ProtVAR_019154Polymorphismp.VAL277METN/A
Swiss-ProtVAR_019148Polymorphismp.VAL36PHEN/A
OMIM110300.0005 Diseasep.PRO234ALABLOOD GROUP B(A)



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