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Results for the Protein: P11217
3041717

PYGM_HUMAN RecName: Full=Glycogen phosphorylase, muscle form; AltName: Full=Myophosphorylase

Known Diseases associated with this Protein:
  GLYCOGEN STORAGE DISEASE 5 (GSD5)
  MCARDLE DISEASE
30
2
13
2
17
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Default View:

GlgP - COG0058
GT1_Glycogen_Phospho - cd04300
Glycosyltransferase_ - cd01635
Phosphorylase - pfam00343


Swiss-Prot Protein: P11217
Identical to: NP_005600
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GT1_Glycogen_Phosphocd0430029828
Glycosyltransferase_cd016351.8e-14383712
Phosphorylasepfam00343112830

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_014008Diseasep.ALA660ASPGlycogen storage disease 5 (GSD5)
Swiss-ProtVAR_014012Diseasep.ALA687PROGlycogen storage disease 5 (GSD5)
Swiss-ProtVAR_014013Diseasep.ALA704VALGlycogen storage disease 5 (GSD5)
dbSNPrs11231866 Polymorphismp.ARG414GLYN/A
Swiss-ProtVAR_014003Diseasep.ARG194TRPGlycogen storage disease 5 (GSD5)
Swiss-ProtVAR_014007Diseasep.ARG602TRPGlycogen storage disease 5 (GSD5)
Swiss-ProtVAR_014010Diseasep.ASN685TYRGlycogen storage disease 5 (GSD5)
Swiss-ProtVAR_014009Diseasep.GLN666GLUGlycogen storage disease 5 (GSD5)
Swiss-ProtVAR_014005Diseasep.GLU349LYSGlycogen storage disease 5 (GSD5)
Swiss-ProtVAR_003434Diseasep.GLU655LYSGlycogen storage disease 5 (GSD5)
Swiss-ProtVAR_014011Diseasep.GLY686ARGGlycogen storage disease 5 (GSD5)
Swiss-ProtVAR_003431Diseasep.GLY205SERGlycogen storage disease 5 (GSD5)
Swiss-ProtVAR_014002Diseasep.LEU116PROGlycogen storage disease 5 (GSD5)
Swiss-ProtVAR_014004Diseasep.LEU292PROGlycogen storage disease 5 (GSD5)
Swiss-ProtVAR_003432Diseasep.LEU397PROGlycogen storage disease 5 (GSD5)
Swiss-ProtVAR_003433Diseasep.LYS543THRGlycogen storage disease 5 (GSD5)
Swiss-ProtVAR_014006Diseasep.THR488ASNGlycogen storage disease 5 (GSD5)
dbSNPrs71581787 Polymorphismp.THR395METN/A
Swiss-ProtVAR_014015Diseasep.TRP798ARGGlycogen storage disease 5 (GSD5)
OMIM608455.0001 Diseasep.ARG50TERMCARDLE DISEASE
OMIM608455.0009 Diseasep.ARG575TERMCARDLE DISEASE
OMIM608455.0020 Diseasep.ASP51GLYMCARDLE DISEASE
OMIM608455.0010 Diseasep.GLN665GLUMCARDLE DISEASE
OMIM608455.0005 Diseasep.GLU654LYSMCARDLE DISEASE
OMIM608455.0013 Diseasep.GLU540TERMCARDLE DISEASE
OMIM608455.0008 Diseasep.GLY685ARGMCARDLE DISEASE
OMIM608455.0002 Diseasep.GLY205SERMCARDLE DISEASE
OMIM608455.0006 Diseasep.LEU396PROMCARDLE DISEASE
OMIM608455.0016 Diseasep.LYS608LYSMCARDLE DISEASE
OMIM608455.0003 Diseasep.LYS543THRMCARDLE DISEASE
OMIM608455.0015 Diseasep.TRP797ARGMCARDLE DISEASE
OMIM608455.0017 Diseasep.TYR573TERMCARDLE DISEASE



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