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Results for the Protein: Q9UKM7
93195043

MA1B1_HUMAN RecName: Full=Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase; AltName: Full=ER alpha-1,2-mannosidase; AltName: Full=ER mannosidase 1; Short=ERMan1; AltName: Full=Man9GlcNAc2-specific-processing alpha-mannosidase; AltName: Full=Mannosidase alpha class 1B member 1

Known Diseases associated with this Protein:
  MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
  MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 (MRT15)
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Glyco_hydro_47 - pfam01532


Swiss-Prot Protein: Q9UKM7
Identical to: NP_057303
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Glyco_hydro_47pfam015321e-242256695

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_066592Diseasep.ARG334CYSMental retardation, autosomal recessive 15 (MRT15)
dbSNPrs968733 Polymorphismp.ASN59SERN/A
Swiss-ProtVAR_066593Diseasep.GLU397LYSMental retardation, autosomal recessive 15 (MRT15)
OMIM604346.0003 Diseasep.ARG334CYSMENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
OMIM604346.0001 Diseasep.GLU397LYSMENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
OMIM604346.0002 Diseasep.TRP473TERMENTAL RETARDATION, AUTOSOMAL RECESSIVE 15



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