Results for the protein: Q76KP1

Results for the Protein: Q76KP1

74712926

338707

B4GALNT4

NCBI, UniProt

B4GN4_HUMAN RecName: Full=N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 1; Short=NGalNAc-T1; AltName: Full=Beta-1,4-N-acetylgalactosaminyltransferase IV; Short=Beta4GalNAc-T4; Short=Beta4GalNAcT4

			0 5 0 4 1

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Default View: PA14 - pfam07691 PA14 - smart00758 CHGN - pfam05679 Glyco_tranf_GTA_type - cd00761	Swiss-Prot Protein: Q76KP1 Identical to: NP_848632 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PA14	pfam07691	1.9e-12	128	276
PA14	smart00758	7.7e-12	130	275
CHGN	pfam05679	4.8e-05	583	1038

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs34063493	Polymorphism	p.ALA67GLU	N/A
Swiss-Prot	VAR_061096	Polymorphism	p.ALA67VAL	N/A
dbSNP	rs111622783	Polymorphism	p.ASN430SER	N/A
dbSNP	rs116462225	Polymorphism	p.GLN71ARG	N/A
dbSNP	rs11822725	Polymorphism	p.GLY88VAL	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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