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Results for the Protein: P34949
462567
MPI

MPI_HUMAN RecName: Full=Mannose-6-phosphate isomerase; AltName: Full=Phosphohexomutase; AltName: Full=Phosphomannose isomerase; Short=PMI

Known Diseases associated with this Protein:
  CONGENITAL DISORDER OF GLYCOSYLATION 1B (CDG1B)
  CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB
17
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4
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13
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Default View:

ManA - COG1482
PMI_typeI - pfam01238


Swiss-Prot Protein: P34949
Identical to: NP_002426
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PMI_typeIpfam012383.2e-2436382

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_022519Diseasep.ARG152GLNCongenital disorder of glycosylation 1B (CDG1B)
Swiss-ProtVAR_012340Diseasep.ARG219GLNCongenital disorder of glycosylation 1B (CDG1B)
Swiss-ProtVAR_022522Diseasep.ARG295HISCongenital disorder of glycosylation 1B (CDG1B)
Swiss-ProtVAR_022524Diseasep.ARG418HISCongenital disorder of glycosylation 1B (CDG1B)
Swiss-ProtVAR_022518Diseasep.ASP131ASNCongenital disorder of glycosylation 1B (CDG1B)
Swiss-ProtVAR_022520Diseasep.GLY250SERCongenital disorder of glycosylation 1B (CDG1B)
Swiss-ProtVAR_012345Diseasep.ILE140THRCongenital disorder of glycosylation 1B (CDG1B)
Swiss-ProtVAR_022523Diseasep.ILE398THRCongenital disorder of glycosylation 1B (CDG1B)
Swiss-ProtVAR_012339Diseasep.MET138THRCongenital disorder of glycosylation 1B (CDG1B)
Swiss-ProtVAR_022516Diseasep.MET51THRCongenital disorder of glycosylation 1B (CDG1B)
Swiss-ProtVAR_012338Diseasep.SER102LEUCongenital disorder of glycosylation 1B (CDG1B)
Swiss-ProtVAR_022517Diseasep.TYR129CYSCongenital disorder of glycosylation 1B (CDG1B)
Swiss-ProtVAR_022521Diseasep.TYR255CYSCongenital disorder of glycosylation 1B (CDG1B)
OMIM154550.0001 Diseasep.ARG219GLNCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib
OMIM154550.0005 Diseasep.ARG295HISCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib
OMIM154550.0003 Diseasep.MET138THRCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib
OMIM154550.0002 Diseasep.SER102LEUCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib



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