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Results for the Protein: Q9Y223
45476991
GNE

GLCNE_HUMAN RecName: Full=Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase; AltName: Full=UDP-GlcNAc-2-epimerase/ManAc kinase; Includes: RecName: Full=UDP-N-acetylglucosamine 2-epimerase (hydrolyzing); AltName: Full=UDP-GlcNAc-2-epimerase; AltName: Full=Uridine diphosphate-N-acetylglucosamine-2-epimerase; Includes: RecName: Full=N-acetylmannosamine kinase; AltName: Full=ManAc kinase

Known Diseases associated with this Protein:
  INCLUSION BODY MYOPATHY 2 (IBM2)
  INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE
  NONAKA MYOPATHY
  NONAKA MYOPATHY (NM)
  NONAKA MYOPATHY, INCLUDED
  SIALURIA
  SIALURIA (SIALURIA)
51
0
15
0
36
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Default View:

WecB - COG0381
GT1_UDP-GlcNAc_2-Epi - cd03786
Epimerase_2 - pfam02350
NagC - COG1940
ROK - pfam00480


Swiss-Prot Protein: Q9Y223
Identical to: NP_005467
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GT1_UDP-GlcNAc_2-Epicd037865.7e-11011375
NagCCOG19403.5e-69402722
Epimerase_2pfam023509.5e-9230375
ROKpfam004801e-39411596

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_021783Diseasep.ALA600THRInclusion body myopathy 2 (IBM2)
Swiss-ProtVAR_021784Diseasep.ALA630THRNonaka myopathy (NM)
Swiss-ProtVAR_017962Diseasep.ALA631THRInclusion body myopathy 2 (IBM2)
Swiss-ProtVAR_017955Diseasep.ALA460VALNonaka myopathy (NM)
Swiss-ProtVAR_017956Diseasep.ALA524VALInclusion body myopathy 2 (IBM2)
Swiss-ProtVAR_017963Diseasep.ALA631VALNonaka myopathy (NM)
Swiss-ProtVAR_021773Diseasep.ARG162CYSInclusion body myopathy 2 (IBM2)
Swiss-ProtVAR_021776Diseasep.ARG177CYSNonaka myopathy (NM)
Swiss-ProtVAR_017948Diseasep.ARG246GLNInclusion body myopathy 2 (IBM2)
Swiss-ProtVAR_017951Diseasep.ARG266GLNSialuria (SIALURIA)
Swiss-ProtVAR_021779Diseasep.ARG306GLNNonaka myopathy (NM)
Swiss-ProtVAR_017950Diseasep.ARG263LEUSialuria (SIALURIA)
Swiss-ProtVAR_017949Diseasep.ARG246TRPInclusion body myopathy 2 (IBM2)
Swiss-ProtVAR_017952Diseasep.ARG266TRPSialuria (SIALURIA)
Swiss-ProtVAR_021782Diseasep.ASN519SERInclusion body myopathy 2 (IBM2)
Swiss-ProtVAR_017947Diseasep.ASP225ASNInclusion body myopathy 2 (IBM2)
Swiss-ProtVAR_017954Diseasep.ASP378TYRNonaka myopathy (NM)
Swiss-ProtVAR_021775Diseasep.ASP176VALNonaka myopathy (NM)
Swiss-ProtVAR_017953Diseasep.CYS303VALInclusion body myopathy 2 (IBM2)
Swiss-ProtVAR_017960Diseasep.GLY576GLUInclusion body myopathy 2 (IBM2)
Swiss-ProtVAR_021777Diseasep.GLY206SERInclusion body myopathy 2 (IBM2)
Swiss-ProtVAR_021772Diseasep.HIS132GLNNonaka myopathy (NM)
Swiss-ProtVAR_017946Diseasep.ILE200PHEInclusion body myopathy 2 (IBM2)
Swiss-ProtVAR_021781Diseasep.ILE472THRNonaka myopathy (NM)
Swiss-ProtVAR_017958Diseasep.ILE557THRInclusion body myopathy 2 (IBM2)
Swiss-ProtVAR_017961Diseasep.ILE587THRInclusion body myopathy 2 (IBM2)
Swiss-ProtVAR_017966Diseasep.MET712THRInclusion body myopathy 2 (IBM2)
Swiss-ProtVAR_021774Diseasep.MET171VALInclusion body myopathy 2 (IBM2)
Swiss-ProtVAR_017957Diseasep.PHE528CYSInclusion body myopathy 2 (IBM2)
Swiss-ProtVAR_017945Diseasep.PRO36LEUInclusion body myopathy 2 (IBM2)
Swiss-ProtVAR_021771Diseasep.PRO27SERInclusion body myopathy 2 (IBM2)
Swiss-ProtVAR_017964Diseasep.TYR675HISInclusion body myopathy 2 (IBM2)
Swiss-ProtVAR_021778Diseasep.VAL216ALAInclusion body myopathy 2 (IBM2)
Swiss-ProtVAR_021780Diseasep.VAL331ALANonaka myopathy (NM)
Swiss-ProtVAR_017959Diseasep.VAL572LEUNonaka myopathy (NM)
Swiss-ProtVAR_017965Diseasep.VAL696METInclusion body myopathy 2 (IBM2)
OMIM603824.0007 Diseasep.ALA600THRINCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE
OMIM603824.0012 Diseasep.ALA429VALNONAKA MYOPATHY
OMIM603824.0015 Diseasep.ALA600VALNONAKA MYOPATHY
OMIM603824.0010 Diseasep.ARG215GLNINCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE
OMIM603824.0002 Diseasep.ARG235GLNSIALURIA
OMIM603824.0003 Diseasep.ARG232LEUSIALURIA
OMIM603824.0001 Diseasep.ARG235TRPSIALURIA
OMIM603824.0011 Diseasep.ASP194ASNINCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE
OMIM603824.0009 Diseasep.CYS272TERINCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE
OMIM603824.0014 Diseasep.CYS272VALNONAKA MYOPATHY
OMIM603824.0006 Diseasep.GLY545GLUINCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE
OMIM603824.0005 Diseasep.MET681THRINCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE||NONAKA MYOPATHY, INCLUDED
OMIM603824.0016 Diseasep.MET140VALINCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE
OMIM603824.0013 Diseasep.VAL541LEUNONAKA MYOPATHY
OMIM603824.0008 Diseasep.VAL665METINCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE



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