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Results for the Protein: Q5BKT4
74736030

AG10A_HUMAN RecName: Full=Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase; AltName: Full=Alpha-1,2-glucosyltransferase ALG10-A; AltName: Full=Alpha-2-glucosyltransferase ALG10-A; AltName: Full=Asparagine-linked glycosylation protein 10 homolog A

Known Diseases associated with this Protein:
  LONG QT SYNDROME 2, ACQUIRED, REDUCED SUSCEPTIBILITY TO
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DIE2_ALG10 - pfam04922


Swiss-Prot Protein: Q5BKT4
Identical to: NP_116223
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DIE2_ALG10pfam049221.8e-23528427

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM603313.0001 Diseasep.ILE447VALLONG QT SYNDROME 2, ACQUIRED, REDUCED SUSCEPTIBILITY TO



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