Results for the protein: Q8WZA1

Results for the Protein: Q8WZA1

311033411

55624

POMGNT1

NCBI, UniProt

PMGT1_HUMAN RecName: Full=Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1; Short=POMGnT1; AltName: Full=UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.2; Short=GnT I.2

Known Diseases associated with this Protein:
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A3 (MDDGA3)
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION B3 (MDDGB3)
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE C3 (MDDGC3)

14

4

0

0

18

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Default View: GNT-I - pfam03071 GT13_GLCNAC-TI - cd02514	Swiss-Prot Protein: Q8WZA1 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
GNT-I	pfam03071	1.8e-16	228	635

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_023106	Disease	p.ARG442CYS	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3)
Swiss-Prot	VAR_023104	Disease	p.ARG311GLN	Muscular dystrophy-dystroglycanopathy congenital with mental retardation B3 (MDDGB3)
Swiss-Prot	VAR_023102	Polymorphism	p.ARG265HIS	N/A
Swiss-Prot	VAR_065023	Disease	p.ARG367HIS	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3)
Swiss-Prot	VAR_065026	Disease	p.ARG605PRO	Muscular dystrophy-dystroglycanopathy congenital with mental retardation B3 (MDDGB3)
Swiss-Prot	VAR_065025	Disease	p.ASP556ASN	Muscular dystrophy-dystroglycanopathy limb-girdle C3 (MDDGC3)
Swiss-Prot	VAR_065024	Disease	p.ASP427HIS	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3)
Swiss-Prot	VAR_023103	Disease	p.CYS269TYR	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3)
Swiss-Prot	VAR_023107	Disease	p.CYS490TYR	Muscular dystrophy-dystroglycanopathy congenital with mental retardation B3 (MDDGB3)
Swiss-Prot	VAR_023101	Disease	p.GLU223LYS	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3)
Swiss-Prot	VAR_030645	Polymorphism	p.GLU250VAL	N/A
Swiss-Prot	VAR_023110	Polymorphism	p.MET623VAL	N/A
Swiss-Prot	VAR_023108	Disease	p.PRO493ARG	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3)
Swiss-Prot	VAR_065022	Disease	p.SER198ARG	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3)
Swiss-Prot	VAR_023109	Disease	p.SER550ASN	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3)
Swiss-Prot	VAR_065021	Disease	p.THR176PRO	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3)
Swiss-Prot	VAR_023105	Disease	p.TRP425SER	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3)
Swiss-Prot	VAR_030646	Polymorphism	p.VAL504ILE	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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