Results for the protein: O75752

Results for the Protein: O75752

51315813

8706

B3GALNT1

NCBI, UniProt

B3GL1_HUMAN RecName: Full=UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1; Short=Beta-1,3-GalNAc-T1; AltName: Full=Beta-1,3-galactosyltransferase 3; Short=Beta-1,3-GalTase 3; Short=Beta3Gal-T3; Short=Beta3GalT3; Short=b3Gal-T3; AltName: Full=Beta-3-Gx-T3; AltName: Full=Galactosylgalactosylglucosylceramide beta-D-acetyl-galactosaminyltransferase; AltName: Full=Globoside synthase; AltName: Full=UDP-N-acetylgalactosamine:globotriaosylceramide beta-1,3-N-acetylgalactosaminyltransferase

			0 3 0 0 3

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Default View: Galactosyl_T - pfam01762	Swiss-Prot Protein: O75752 Identical to: NP_001033717, NP_149357, NP_003772, NP_149358, NP_149359 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_025091	Polymorphism	p.ASP126ASN	N/A
Swiss-Prot	VAR_019646	Polymorphism	p.GLU266ALA	N/A
Swiss-Prot	VAR_019647	Polymorphism	p.GLY271ARG	N/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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