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Results for the Protein: Q9BVK2
143811361

ALG8_HUMAN RecName: Full=Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase; AltName: Full=Asparagine-linked glycosylation protein 8 homolog; AltName: Full=Dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase; AltName: Full=Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase

Known Diseases associated with this Protein:
  CONGENITAL DISORDER OF GLYCOSYLATION 1H (CDG1H)
  CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IH
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2
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1
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Alg6_Alg8 - pfam03155


Swiss-Prot Protein: Q9BVK2
Identical to: NP_076984
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Alg6_Alg8pfam0315519514

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs665278 Polymorphismp.ASN222SERN/A
Swiss-ProtVAR_023482Diseasep.GLY275ASPCongenital disorder of glycosylation 1H (CDG1H)
Swiss-ProtVAR_031596Polymorphismp.ILE439THRN/A
Swiss-ProtVAR_023480Diseasep.THR47PROCongenital disorder of glycosylation 1H (CDG1H)
OMIM608103.0006 Diseasep.GLY275ASPCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih
OMIM608103.0004 Diseasep.THR47PROCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih



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