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Results for the Protein: Q8WZA1
311033411

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
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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 ↕
GT13_GLCNAC-TIcd025143.1e-218301628
GNT-Ipfam030711.8e-16228635

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_023106Diseasep.ARG442CYSMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3)
Swiss-ProtVAR_023104Diseasep.ARG311GLNMuscular dystrophy-dystroglycanopathy congenital with mental retardation B3 (MDDGB3)
Swiss-ProtVAR_023102Polymorphismp.ARG265HISN/A
Swiss-ProtVAR_065023Diseasep.ARG367HISMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3)
Swiss-ProtVAR_065026Diseasep.ARG605PROMuscular dystrophy-dystroglycanopathy congenital with mental retardation B3 (MDDGB3)
Swiss-ProtVAR_065025Diseasep.ASP556ASNMuscular dystrophy-dystroglycanopathy limb-girdle C3 (MDDGC3)
Swiss-ProtVAR_065024Diseasep.ASP427HISMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3)
Swiss-ProtVAR_023103Diseasep.CYS269TYRMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3)
Swiss-ProtVAR_023107Diseasep.CYS490TYRMuscular dystrophy-dystroglycanopathy congenital with mental retardation B3 (MDDGB3)
Swiss-ProtVAR_023101Diseasep.GLU223LYSMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3)
Swiss-ProtVAR_030645Polymorphismp.GLU250VALN/A
Swiss-ProtVAR_023110Polymorphismp.MET623VALN/A
Swiss-ProtVAR_023108Diseasep.PRO493ARGMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3)
Swiss-ProtVAR_065022Diseasep.SER198ARGMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3)
Swiss-ProtVAR_023109Diseasep.SER550ASNMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3)
Swiss-ProtVAR_065021Diseasep.THR176PROMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3)
Swiss-ProtVAR_023105Diseasep.TRP425SERMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3)
Swiss-ProtVAR_030646Polymorphismp.VAL504ILEN/A



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