Results for the protein: P06737

Results for the Protein: P06737

6648082

5836

PYGL

NCBI, UniProt

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

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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_Phospho	cd04300		29	828
Glycosyltransferase_	cd01635	1.2e-113	83	712
Phosphorylase	pfam00343		112	830

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2228499	Polymorphism	p.ARG425PRO	N/A
Swiss-Prot	VAR_013096	Polymorphism	p.ARG715SER	N/A
Swiss-Prot	VAR_007909	Disease	p.ASN377LYS	Glycogen storage disease 6 (GSD6)
Swiss-Prot	VAR_007908	Disease	p.ASN339SER	Glycogen storage disease 6 (GSD6)
dbSNP	rs78558135	Polymorphism	p.ASN845SER	N/A
Swiss-Prot	VAR_034427	Polymorphism	p.ILE806LEU	N/A
Swiss-Prot	VAR_013095	Polymorphism	p.VAL231GLU	N/A
dbSNP	rs35831273	Polymorphism	p.VAL698GLY	N/A
dbSNP	rs946616	Polymorphism	p.VAL222ILE	N/A
OMIM	613741.0004	Disease	p.ASN376LYS	GLYCOGEN STORAGE DISEASE VI
OMIM	613741.0003	Disease	p.ASN338SER	GLYCOGEN STORAGE DISEASE VI

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