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Results for the Protein: NP_001070834
116517315

protein O-mannosyl-transferase 1 isoform c [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
3
11
3
0
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Default View:

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




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PMTpfam023669.4e-821213
MIRpfam028153.7e-12265443
MIRsmart004728.1e-10242305
MIRsmart004726.8e-06316373
MIRsmart004723.7e-05380437

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs12115566 Polymorphismp.ALA565VALN/A
dbSNPrs11243406 Polymorphismp.ASP357GLUN/A
dbSNPrs4740164 Polymorphismp.VAL251ILEN/A
OMIM607423.0005 Diseasep.ALA146PROMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1
OMIM607423.0013 Diseasep.ALA593THRMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 1
OMIM607423.0008 Diseasep.ARG438TERMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 1
OMIM607423.0011 Diseasep.ARG465TERMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 1
OMIM607423.0019 Diseasep.ASN90ASPMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1
OMIM607423.0009 607423.0012 Diseasep.GLN514HISMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 1
OMIM607423.0002 Diseasep.GLN227TERMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH EYE AND BRAIN||ANOMALIES), TYPE A, 1
OMIM607423.0006 607423.0010 Diseasep.GLY11ARGMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 1
OMIM607423.0001 Diseasep.GLY22ARGMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH EYE AND BRAIN||ANOMALIES), TYPE A, 1
OMIM607423.0020 Diseasep.THR338METMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1
OMIM607423.0007 Diseasep.TRP506CYSMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 1



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