Results for the protein: NP

Results for the Protein: NP_001158188

257900462

5837

PYGM

NCBI

glycogen phosphorylase, muscle form isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
MCARDLE DISEASE

13

2

13

2

0

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Default View: GlgP - COG0058 GT1_Glycogen_Phospho - cd04300 Glycosyltransferase_ - cd01635 Phosphorylase - pfam00343	RefSeq Protein: NP_001158188 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
GT1_Glycogen_Phospho	cd04300		29	740
Glycosyltransferase_	cd01635	6.9e-113	36	624
Phosphorylase	pfam00343		77	742

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs11231866	Polymorphism	p.ARG326GLY	N/A
dbSNP	rs71581787	Polymorphism	p.THR307MET	N/A
OMIM	608455.0009	Disease	p.ARG487TER	MCARDLE DISEASE
OMIM	608455.0001	Disease	p.ARG50TER	MCARDLE DISEASE
OMIM	608455.0020	Disease	p.ASP51GLY	MCARDLE DISEASE
OMIM	608455.0010	Disease	p.GLN577GLU	MCARDLE DISEASE
OMIM	608455.0005	Disease	p.GLU566LYS	MCARDLE DISEASE
OMIM	608455.0013	Disease	p.GLU452TER	MCARDLE DISEASE
OMIM	608455.0008	Disease	p.GLY597ARG	MCARDLE DISEASE
OMIM	608455.0002	Disease	p.GLY117SER	MCARDLE DISEASE
OMIM	608455.0006	Disease	p.LEU308PRO	MCARDLE DISEASE
OMIM	608455.0016	Disease	p.LYS520LYS	MCARDLE DISEASE
OMIM	608455.0003	Disease	p.LYS455THR	MCARDLE DISEASE
OMIM	608455.0015	Disease	p.TRP709ARG	MCARDLE DISEASE
OMIM	608455.0017	Disease	p.TYR485TER	MCARDLE DISEASE

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