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Results for the Protein: O15305
3024413

PMM2_HUMAN RecName: Full=Phosphomannomutase 2; Short=PMM 2

Known Diseases associated with this Protein:
  CONGENITAL DISORDER OF GLYCOSYLATION 1A (CDG1A)
  CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA
87
3
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0
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Swiss-Prot Protein: O15305
Identical to: NP_000294
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_006114Diseasep.ALA233THRCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_006097Diseasep.ALA108VALCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022485Diseasep.ARG141CYSCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_006101Diseasep.ARG123GLNCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022509Diseasep.ARG238GLYCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_006105Diseasep.ARG141HISCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_006116Diseasep.ARG238PROCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_006106Diseasep.ARG162TRPCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_006110Diseasep.ASN216ILECongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_006095Diseasep.ASN101LYSCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022501Diseasep.ASN216SERCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022487Diseasep.ASP148ASNCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022504Diseasep.ASP223ASNCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022502Diseasep.ASP217GLUCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_006111Diseasep.ASP223GLUCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022495Diseasep.ASP185GLYCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_006108Diseasep.ASP188GLYCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_006094Diseasep.ASP65TYRCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022496Diseasep.CYS192GLYCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022481Diseasep.CYS103PHECongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022510Diseasep.CYS241SERCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022469Diseasep.CYS9TYRCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022493Diseasep.GLN177HISCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022474Diseasep.GLN37HISCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022133Polymorphismp.GLN37LEUN/A
Swiss-ProtVAR_022498Diseasep.GLU197ALACongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022480Diseasep.GLU93ALACongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022488Diseasep.GLU151GLYCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_009232Diseasep.GLU139LYSCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_006109Diseasep.GLY208ALACongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_006099Diseasep.GLY117ARGCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_006107Diseasep.GLY175ARGCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022507Diseasep.GLY228ARGCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022475Polymorphismp.GLY42ARGN/A
Swiss-ProtVAR_022506Diseasep.GLY228CYSCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022471Diseasep.GLY15GLUCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022500Diseasep.GLY214SERCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022492Diseasep.GLY176VALCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022497Diseasep.HIS195ARGCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022503Diseasep.HIS218LEUCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022484Diseasep.ILE132ASNCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022483Diseasep.ILE132PHECongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022482Diseasep.ILE120THRCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_006104Diseasep.ILE132THRCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022489Diseasep.ILE153THRCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022473Diseasep.LEU32ARGCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_012344Diseasep.LEU104VALCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022134Polymorphismp.MET212VALN/A
Swiss-ProtVAR_022470Diseasep.PHE11CYSCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_006100Diseasep.PHE119LEUCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022486Diseasep.PHE144LEUCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022490Diseasep.PHE157SERCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022494Diseasep.PHE183SERCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022499Diseasep.PHE206SERCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022491Diseasep.PHE172VALCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_006103Diseasep.PRO131ALACongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_006098Diseasep.PRO113LEUCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022472Diseasep.PRO20SERCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022478Diseasep.PRO69SERCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022508Diseasep.THR237ARGCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_006115Diseasep.THR237METCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022505Diseasep.THR226SERCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_006096Diseasep.TYR106CYSCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022476Diseasep.TYR64CYSCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022479Diseasep.TYR76CYSCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_006112Diseasep.TYR229SERCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_006093Diseasep.VAL44ALACongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022563Diseasep.VAL44LEUCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_006102Diseasep.VAL129METCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_006113Diseasep.VAL231METCongenital disorder of glycosylation 1A (CDG1A)
Swiss-ProtVAR_022477Diseasep.VAL67METCongenital disorder of glycosylation 1A (CDG1A)
OMIM601785.0001 Diseasep.ARG141HISCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM601785.0004 Diseasep.ARG162TRPCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM601785.0002 Diseasep.ASN216ILECONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM601785.0009 Diseasep.ASP223GLUCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM601785.0007 Diseasep.ASP188GLYCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM601785.0005 Diseasep.ASP65TYRCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM601785.0012 Diseasep.CYS241SERCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM601785.0015 Diseasep.CYS9TYRCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM601785.0008 Diseasep.GLY117ARGCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM601785.0013 Diseasep.ILE132THRCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM601785.0016 Diseasep.LEU32ARGCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM601785.0006 Diseasep.PHE119LEUCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM601785.0018 Diseasep.PRO113LEUCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM601785.0011 Diseasep.THR237ARGCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM601785.0017 Diseasep.THR226SERCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM601785.0023 Diseasep.TYR106PHECONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM601785.0020 Diseasep.VAL44ALACONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM601785.0003 Diseasep.VAL129METCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
OMIM601785.0014 Diseasep.VAL231METCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia



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