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Results for the Protein: Q9NP73
298286785

ALG13_HUMAN RecName: Full=Putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13; AltName: Full=Asparagine-linked glycosylation 13 homolog; AltName: Full=Glycosyltransferase 28 domain-containing protein 1; AltName: Full=UDP-N-acetylglucosamine transferase subunit ALG13 homolog

Known Diseases associated with this Protein:
  CONGENITAL DISORDER OF GLYCOSYLATION 1S (CDG1S)
1
1
0
0
2
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Default View:

Glyco_tran_28_C - pfam04101
COG5017 - COG5017
OTU - pfam02338
TUDOR - cd04508


Swiss-Prot Protein: Q9NP73
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
TUDORcd045081.6e-06496544
COG5017COG50172.1e-173158
Glyco_tran_28_Cpfam041012.3e-243156
OTUpfam023387.6e-25237346

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069412Polymorphismp.ASN107SERN/A
Swiss-ProtVAR_069218Diseasep.LYS94GLUCongenital disorder of glycosylation 1S (CDG1S)



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