Results for the protein: Q9NPC4

Results for the Protein: Q9NPC4

25452796

53947

A4GALT

NCBI, UniProt

A4GAT_HUMAN RecName: Full=Lactosylceramide 4-alpha-galactosyltransferase; AltName: Full=Alpha-1,4-N-acetylglucosaminyltransferase; AltName: Full=Alpha-1,4-galactosyltransferase; AltName: Full=Alpha4Gal-T1; AltName: Full=CD77 synthase; AltName: Full=Globotriaosylceramide synthase; Short=Gb3 synthase; AltName: Full=P1/Pk synthase; AltName: Full=UDP-galactose:beta-D-galactosyl-beta1-R 4-alpha-D-galactosyltransferase

Known Diseases associated with this Protein:
NOR POLYAGGLUTINATION SYNDROME
P1PK BLOOD GROUP SYSTEM, P PHENOTYPE

5

5

5

2

3

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Default View:	Swiss-Prot Protein: Q9NPC4 Identical to: NP_059132 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 ↕
dbSNP	rs28915383	Polymorphism	p.GLN163ARG	N/A
Swiss-Prot	VAR_017508	Polymorphism	p.GLY187ASP	N/A
Swiss-Prot	VAR_014297	Polymorphism	p.MET183LYS	N/A
dbSNP	rs11541159	Polymorphism	p.MET37VAL	N/A
Swiss-Prot	VAR_017509	Polymorphism	p.PRO251LEU	N/A
OMIM	607922.0008	Disease	p.GLN211GLU	NOR POLYAGGLUTINATION SYNDROME
OMIM	607922.0004	Disease	p.GLY187ASP	P1PK BLOOD GROUP SYSTEM, p PHENOTYPE
OMIM	607922.0001	Disease	p.MET183LYS	P1PK BLOOD GROUP SYSTEM, p PHENOTYPE
OMIM	607922.0002	Disease	p.PRO251LEU	P1PK BLOOD GROUP SYSTEM, p PHENOTYPE
OMIM	607922.0003	Disease	p.TRP261TER	P1PK BLOOD GROUP SYSTEM, p PHENOTYPE

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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