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Results for the Protein: Q9UPQ8
20140913

DOLK_HUMAN RecName: Full=Dolichol kinase; AltName: Full=Transmembrane protein 15

Known Diseases associated with this Protein:
  CONGENITAL DISORDER OF GLYCOSYLATION 1M (CDG1M)
  CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM
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SEC59 - COG0170


Swiss-Prot Protein: Q9UPQ8
Identical to: NP_055723
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SEC59COG01700.00012315538

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_049709Polymorphismp.ASP224VALN/A
Swiss-ProtVAR_032851Diseasep.CYS99SERCongenital disorder of glycosylation 1M (CDG1M)
Swiss-ProtVAR_032852Diseasep.TYR441SERCongenital disorder of glycosylation 1M (CDG1M)
dbSNPrs28365523 Polymorphismp.VAL121GLYN/A
OMIM610746.0001 Diseasep.CYS99SERCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im
OMIM610746.0003 Diseasep.HIS408ASPCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im
OMIM610746.0004 Diseasep.TRP304CYSCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im
OMIM610746.0002 Diseasep.TYR441SERCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im



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