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Results for the Protein: P13807
1351366

GYS1_HUMAN RecName: Full=Glycogen [starch] synthase, muscle

Known Diseases associated with this Protein:
  GLYCOGEN STORAGE DISEASE 0, MUSCLE
1
8
1
1
7
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Default View:

GT1_Glycogen_synthas - cd03793
Glycosyltransferase_ - cd01635
Glycogen_syn - pfam05693


Swiss-Prot Protein: P13807
Identical to: NP_002094
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Glycosyltransferase_cd016351.2e-3128550
Glycogen_synpfam0569331663

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_014728Polymorphismp.ASN283SERN/A
Swiss-ProtVAR_014731Polymorphismp.GLU619GLNN/A
Swiss-ProtVAR_014729Polymorphismp.GLU359GLYN/A
Swiss-ProtVAR_007859Polymorphismp.GLY464SERN/A
Swiss-ProtVAR_037958Polymorphismp.ILE108METN/A
Swiss-ProtVAR_014727Polymorphismp.LYS130GLUN/A
dbSNPrs5447 Polymorphismp.MET416VALN/A
Swiss-ProtVAR_014732Polymorphismp.PRO691ALAN/A
OMIM138570.0001 Diseasep.ARG462TERGLYCOGEN STORAGE DISEASE 0, MUSCLE



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