Results for the protein: Q6L9W6

Results for the Protein: Q6L9W6

161789024

283358

B4GALNT3

NCBI, UniProt

B4GN3_HUMAN RecName: Full=Beta-1,4-N-acetylgalactosaminyltransferase 3; Short=B4GalNAcT3; Short=Beta4GalNAc-T3; Short=Beta4GalNAcT3; AltName: Full=Beta-1,4-N-acetylgalactosaminyltransferase III; AltName: Full=N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 2; Short=NGalNAc-T2

			0 6 0 6 0

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Default View: PA14 - pfam07691 PA14 - smart00758 CHGN - pfam05679	Swiss-Prot Protein: Q6L9W6 Identical to: NP_775864 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PA14	smart00758	5.8e-32	131	276
CHGN	pfam05679	0.00021	540	995

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs11063529	Polymorphism	p.ARG265GLN	N/A
dbSNP	rs11063570	Polymorphism	p.ARG768GLN	N/A
dbSNP	rs36078145	Polymorphism	p.ARG992HIS	N/A
dbSNP	rs2075033	Polymorphism	p.GLY59SER	N/A
dbSNP	rs111368596	Polymorphism	p.ILE506VAL	N/A
dbSNP	rs7298766	Polymorphism	p.LYS411ARG	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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