Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: P06737
6648082

PYGL_HUMAN RecName: Full=Glycogen phosphorylase, liver form

Known Diseases associated with this Protein:
  GLYCOGEN STORAGE DISEASE 6 (GSD6)
  GLYCOGEN STORAGE DISEASE VI
4
7
2
4
5
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

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


Swiss-Prot Protein: P06737
Identical to: NP_002854
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GT1_Glycogen_Phosphocd0430029828
Glycosyltransferase_cd016351.2e-11383712
Phosphorylasepfam00343112830

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2228499 Polymorphismp.ARG425PRON/A
Swiss-ProtVAR_013096Polymorphismp.ARG715SERN/A
Swiss-ProtVAR_007909Diseasep.ASN377LYSGlycogen storage disease 6 (GSD6)
Swiss-ProtVAR_007908Diseasep.ASN339SERGlycogen storage disease 6 (GSD6)
dbSNPrs78558135 Polymorphismp.ASN845SERN/A
Swiss-ProtVAR_034427Polymorphismp.ILE806LEUN/A
Swiss-ProtVAR_013095Polymorphismp.VAL231GLUN/A
dbSNPrs35831273 Polymorphismp.VAL698GLYN/A
dbSNPrs946616 Polymorphismp.VAL222ILEN/A
OMIM613741.0004 Diseasep.ASN376LYSGLYCOGEN STORAGE DISEASE VI
OMIM613741.0003 Diseasep.ASN338SERGLYCOGEN STORAGE DISEASE VI



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258