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Results for the Protein: Q9UKY4
32171723

POMT2_HUMAN RecName: Full=Protein O-mannosyl-transferase 2; AltName: Full=Dolichyl-phosphate-mannose--protein mannosyltransferase 2

Known Diseases associated with this Protein:
  ANOMALIES), TYPE A, 2
  MUSCULAR DYSTROPHY-DYSTROGLYCANO
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A2 (MDDGA2)
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION B2 (MDDGB2)
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE C2 (MDDGC2)
  TYPE B, 2
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1
13
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13
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Default View:

PMT1 - COG1928
PMT - pfam02366
MIR - smart00472
MIR - pfam02815


Swiss-Prot Protein: Q9UKY4
Identical to: NP_037514
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PMT1COG19284.4e-19834750
PMTpfam023662e-11762306
MIRpfam028155.4e-31353527
MIRsmart004721.3e-09334390
MIRsmart004721e-11403459
MIRsmart004723e-07465521

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs8177536 Polymorphismp.ALA54GLUN/A
Swiss-ProtVAR_065042Diseasep.ARG413PROMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2)
Swiss-ProtVAR_065039Diseasep.GLY246ASPMuscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2)
Swiss-ProtVAR_065047Diseasep.GLY726GLUMuscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2)
Swiss-ProtVAR_065040Diseasep.GLY353SERMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2)
Swiss-ProtVAR_065044Diseasep.GLY482VALMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2)
Swiss-ProtVAR_068968Diseasep.HIS478ARGMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2)
Swiss-ProtVAR_065038Diseasep.ILE198ASNMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2)
Swiss-ProtVAR_065046Diseasep.PHE717SERMuscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2)
Swiss-ProtVAR_065037Diseasep.THR184METMuscular dystrophy-dystroglycanopathy limb-girdle C2 (MDDGC2)
Swiss-ProtVAR_065048Diseasep.TRP748ARGMuscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2)
Swiss-ProtVAR_065049Diseasep.TRP748SERMuscular dystrophy-dystroglycanopathy limb-girdle C2 (MDDGC2)
Swiss-ProtVAR_065045Diseasep.TYR666CYSMuscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2)
Swiss-ProtVAR_065041Diseasep.VAL373PHEMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2)
OMIM607439.0007 Diseasep.ARG413PROMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 2
OMIM607439.0001 Diseasep.ARG638TERMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 2
OMIM607439.0016 Diseasep.GLY246ASPMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 2
OMIM607439.0013 607439.0015 Diseasep.GLY726GLUMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 2
OMIM607439.0012 607439.0014 Diseasep.GLY353SERMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 2
OMIM607439.0019 Diseasep.GLY482VALMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 2
OMIM607439.0009 Diseasep.ILE198ASNMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 2
OMIM607439.0010 Diseasep.THR184METMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2
OMIM607439.0006 Diseasep.TRP748ARGMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 2
OMIM607439.0011 Diseasep.TRP748SERMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2
OMIM607439.0005 Diseasep.TRP647TERMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 2
OMIM607439.0004 Diseasep.TYR666CYSMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 2||MUSCULAR DYSTROPHY-DYSTROGLYCANO
OMIM607439.0008 Diseasep.VAL373PHEMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 2



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