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Results for the Protein: NP_001177317
298566325
GNE

bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 3 [Homo sapiens]

Known Diseases associated with this Protein:
  INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE
  NONAKA MYOPATHY
  NONAKA MYOPATHY, INCLUDED
  SIALURIA
15
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15
0
0
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Default View:

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




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
WecBCOG03817e-1331383
NagCCOG19403.5e-69397717
Epimerase_2pfam023501.4e-8127370
ROKpfam004801e-39406591

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM603824.0007 Diseasep.ALA595THRINCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE
OMIM603824.0012 Diseasep.ALA424VALNONAKA MYOPATHY
OMIM603824.0015 Diseasep.ALA595VALNONAKA MYOPATHY
OMIM603824.0010 Diseasep.ARG210GLNINCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE
OMIM603824.0002 Diseasep.ARG230GLNSIALURIA
OMIM603824.0003 Diseasep.ARG227LEUSIALURIA
OMIM603824.0001 Diseasep.ARG230TRPSIALURIA
OMIM603824.0011 Diseasep.ASP189ASNINCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE
OMIM603824.0009 Diseasep.CYS267TERINCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE
OMIM603824.0014 Diseasep.CYS267VALNONAKA MYOPATHY
OMIM603824.0006 Diseasep.GLY540GLUINCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE
OMIM603824.0005 Diseasep.MET676THRINCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE||NONAKA MYOPATHY, INCLUDED
OMIM603824.0016 Diseasep.MET135VALINCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE
OMIM603824.0013 Diseasep.VAL536LEUNONAKA MYOPATHY
OMIM603824.0008 Diseasep.VAL660METINCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE



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