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Results for the Protein: Q9Y6A1
332278226

POMT1_HUMAN RecName: Full=Protein O-mannosyl-transferase 1; AltName: Full=Dolichyl-phosphate-mannose--protein mannosyltransferase 1

Known Diseases associated with this Protein:
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A1 (MDDGA1)
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION B1 (MDDGB1)
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE C1 (MDDGC1)
11
6
0
0
17
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Default View:

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


Swiss-Prot Protein: Q9Y6A1
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PMTpfam023663.9e-13420289
MIRpfam028153.7e-12341519
MIRsmart004728.1e-10318381
MIRsmart004726.8e-06392449
MIRsmart004723.7e-05456513

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_022661Diseasep.ALA200PROMuscular dystrophy-dystroglycanopathy limb-girdle C1 (MDDGC1)
Swiss-ProtVAR_065036Diseasep.ALA669THRMuscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1)
Swiss-ProtVAR_065028Diseasep.ARG105CYSMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1)
Swiss-ProtVAR_065029Diseasep.ARG105HISMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1)
Swiss-ProtVAR_065033Polymorphismp.ARG522LYSN/A
Swiss-ProtVAR_034392Polymorphismp.ASP433GLUN/A
Swiss-ProtVAR_034390Polymorphismp.GLN251ARGN/A
Swiss-ProtVAR_065035Diseasep.GLN590HISMuscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1)
Swiss-ProtVAR_034389Polymorphismp.GLN251TRPN/A
Swiss-ProtVAR_065027Diseasep.GLY65ARGMuscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1)
Swiss-ProtVAR_015734Diseasep.GLY76ARGMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1)
Swiss-ProtVAR_065031Diseasep.GLY207VALMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1)
Swiss-ProtVAR_065032Polymorphismp.LEU285PHEN/A
Swiss-ProtVAR_026697Diseasep.SER537ARGMuscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1)
Swiss-ProtVAR_065034Diseasep.TRP582CYSMuscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1)
Swiss-ProtVAR_015735Diseasep.VAL428ASPMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1)
Swiss-ProtVAR_034391Polymorphismp.VAL327ILEN/A



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