Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: NP_009102
116517319

protein O-mannosyl-transferase 1 isoform a [Homo sapiens]

Known Diseases associated with this Protein:
  ANOMALIES), TYPE A, 1
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH EYE AND BRAIN
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1
  TYPE B, 1
11
4
11
4
0
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


RefSeq Protein: NP_009102
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PMTpfam023664.2e-13520289
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 ↕
dbSNPrs12115566 Polymorphismp.ALA641VALN/A
dbSNPrs11243406 Polymorphismp.ASP433GLUN/A
dbSNPrs2296949 Polymorphismp.GLN251ARGN/A
dbSNPrs4740164 Polymorphismp.VAL327ILEN/A
OMIM607423.0005 Diseasep.ALA200PROMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1
OMIM607423.0013 Diseasep.ALA669THRMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 1
OMIM607423.0008 Diseasep.ARG514TERMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 1
OMIM607423.0011 Diseasep.ARG541TERMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 1
OMIM607423.0019 Diseasep.ASN144ASPMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1
OMIM607423.0009 607423.0012 Diseasep.GLN590HISMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 1
OMIM607423.0002 Diseasep.GLN303TERMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH EYE AND BRAIN||ANOMALIES), TYPE A, 1
OMIM607423.0006 607423.0010 Diseasep.GLY65ARGMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 1
OMIM607423.0001 Diseasep.GLY76ARGMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH EYE AND BRAIN||ANOMALIES), TYPE A, 1
OMIM607423.0020 Diseasep.THR414METMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1
OMIM607423.0007 Diseasep.TRP582CYSMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 1



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