Home News About DMDM Database Statistics Research Publications Contact  

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
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



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 ↕
PMT1COG19282.1e-1336746
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



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258