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Results for the Protein: Q10469
1708004

MGAT2_HUMAN RecName: Full=Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase; AltName: Full=Beta-1,2-N-acetylglucosaminyltransferase II; AltName: Full=GlcNAc-T II; Short=GNT-II; AltName: Full=Mannoside acetylglucosaminyltransferase 2; AltName: Full=N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase II

Known Diseases associated with this Protein:
  CONGENITAL DISORDER OF GLYCOSYLATION 2A (CDG2A)
  CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA
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MGAT2 - pfam05060


Swiss-Prot Protein: Q10469
Identical to: NP_002399
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MGAT2pfam050602.2e-24386440

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_012343Diseasep.ASN318ASPCongenital disorder of glycosylation 2A (CDG2A)
Swiss-ProtVAR_003415Diseasep.HIS262ARGCongenital disorder of glycosylation 2A (CDG2A)
Swiss-ProtVAR_003416Diseasep.SER290PHECongenital disorder of glycosylation 2A (CDG2A)
OMIM602616.0003 Diseasep.ASN318ASPCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa
OMIM602616.0004 Diseasep.CYS339TERCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa
OMIM602616.0002 Diseasep.HIS262ARGCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa
OMIM602616.0005 Diseasep.LYS237ASNCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa
OMIM602616.0001 Diseasep.SER290PHECONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa



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