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Results for the Protein: O75352
215274025

MPU1_HUMAN RecName: Full=Mannose-P-dolichol utilization defect 1 protein; AltName: Full=Suppressor of Lec15 and Lec35 glycosylation mutation homolog; Short=SL15

Known Diseases associated with this Protein:
  CONGENITAL DISORDER OF GLYCOSYLATION 1F (CDG1F)
  CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF
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Default View:

CTNS - smart00679


Swiss-Prot Protein: O75352
Identical to: NP_004861
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CTNSsmart006796.7e-07167198

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs10852891 Polymorphismp.ALA229THRN/A
Swiss-ProtVAR_021388Diseasep.GLY73GLUCongenital disorder of glycosylation 1F (CDG1F)
dbSNPrs16956808 Polymorphismp.GLY225SERN/A
Swiss-ProtVAR_021390Diseasep.LEU119PROCongenital disorder of glycosylation 1F (CDG1F)
Swiss-ProtVAR_021389Diseasep.LEU74SERCongenital disorder of glycosylation 1F (CDG1F)
OMIM604041.0001 Diseasep.GLY73GLUCONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
OMIM604041.0002 Diseasep.LEU119PROCONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
OMIM604041.0005 Diseasep.LEU74SERCONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
OMIM604041.0003 Diseasep.MET1THRCONGENITAL DISORDER OF GLYCOSYLATION, TYPE If



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