Results for the protein: P16442

Results for the Protein: P16442

114949

28

ABO

NCBI, UniProt

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_6	pfam03414	3.3e-254	17	353

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_019152	Polymorphism	p.ARG199CYS	N/A
Swiss-Prot	VAR_003410	Polymorphism	p.ARG176GLY	N/A
Swiss-Prot	VAR_036745	Polymorphism	p.ARG352GLY	N/A
Swiss-Prot	VAR_019151	Polymorphism	p.ARG161HIS	N/A
dbSNP	rs8176742	Polymorphism	p.ARG227HIS	N/A
Swiss-Prot	VAR_019149	Polymorphism	p.ARG63HIS	N/A
dbSNP	rs1053878	Polymorphism	p.ARG156TRP	N/A
Swiss-Prot	VAR_036739	Polymorphism	p.ARG198TRP	N/A
Swiss-Prot	VAR_003414	Polymorphism	p.ARG352TRP	N/A
Swiss-Prot	VAR_036743	Polymorphism	p.ASP291ASN	N/A
dbSNP	rs7853989	Polymorphism	p.CYS175TRP	N/A
dbSNP	rs8176749	Polymorphism	p.CYS310TYR	N/A
Swiss-Prot	VAR_036741	Polymorphism	p.GLU223ASP	N/A
Swiss-Prot	VAR_003413	Polymorphism	p.GLY268ALA	N/A
Swiss-Prot	VAR_055227	Polymorphism	p.GLY230ARG	N/A
dbSNP	rs8176747	Polymorphism	p.GLY268ARG	N/A
dbSNP	rs8176696	Polymorphism	p.GLY35ARG	N/A
Swiss-Prot	VAR_003411	Polymorphism	p.GLY235SER	N/A
dbSNP	rs8176720	Polymorphism	p.HIS99ARG	N/A
dbSNP	rs549446	Polymorphism	p.HIS63LEU	N/A
Swiss-Prot	VAR_003412	Polymorphism	p.LEU266MET	N/A
Swiss-Prot	VAR_036744	Polymorphism	p.LYS346MET	N/A
Swiss-Prot	VAR_036740	Polymorphism	p.MET214ARG	N/A
Swiss-Prot	VAR_036742	Polymorphism	p.MET288ARG	N/A
Swiss-Prot	VAR_019153	Polymorphism	p.PHE216ILE	N/A
dbSNP	rs688976	Polymorphism	p.PHE36VAL	N/A
Swiss-Prot	VAR_003409	Polymorphism	p.PRO156LEU	N/A
dbSNP	rs8176745	Polymorphism	p.PRO257LEU	N/A
Swiss-Prot	VAR_019150	Polymorphism	p.PRO74SER	N/A
dbSNP	rs8176740	Polymorphism	p.SER215ARG	N/A
dbSNP	rs512770	Polymorphism	p.SER74PRO	N/A
dbSNP	rs8176744	Polymorphism	p.SER256TYR	N/A
dbSNP	rs8176721	Polymorphism	p.THR106MET	N/A
Swiss-Prot	VAR_036738	Polymorphism	p.THR163MET	N/A
dbSNP	rs8176741	Polymorphism	p.THR219MET	N/A
Swiss-Prot	VAR_019154	Polymorphism	p.VAL277MET	N/A
Swiss-Prot	VAR_019148	Polymorphism	p.VAL36PHE	N/A
OMIM	110300.0005	Disease	p.PRO234ALA	BLOOD GROUP B(A)

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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