Literature summary for 5.4.2.2 extracted from

Muenks, A.G.; Stiers, K.M.; Beamer, L.J.
Sequence-structure relationships, expression profiles, and disease-associated mutations in the paralogs of phosphoglucomutase 1 (2017), PLoS ONE, 12, e0183563 .

Activating Compound

Activating Compound	Comment	Organism	Structure
alpha-D-Glucose 1,6-bisphosphate	dependent on	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
A139T	disease-associated missense variant	Homo sapiens
D263G	disease-associated missense variant	Homo sapiens
D263Y	disease-associated missense variant	Homo sapiens
D288G	disease-associated missense variant	Homo sapiens
D62H	disease-associated missense variant	Homo sapiens
E377K	disease-associated missense variant	Homo sapiens
E388K	disease-associated missense variant	Homo sapiens
G121R	disease-associated missense variant	Homo sapiens
G121W	disease-associated missense variant	Homo sapiens
G230E	disease-associated missense variant	Homo sapiens
G291R	disease-associated missense variant	Homo sapiens
G330R	disease-associated missense variant	Homo sapiens
G375V	disease-associated missense variant	Homo sapiens
G380R	disease-associated missense variant	Homo sapiens
G506S	disease-associated missense variant	Homo sapiens
G508R	disease-associated missense variant	Homo sapiens
G511R	disease-associated missense variant	Homo sapiens
H261D	disease-associated missense variant	Homo sapiens
L516P	disease-associated missense variant	Homo sapiens
N38Y	disease-associated missense variant	Homo sapiens
P336R	disease-associated missense variant	Homo sapiens
Q41E	disease-associated missense variant	Homo sapiens
Q41H	disease-associated missense variant	Homo sapiens
Q41R	disease-associated missense variant	Homo sapiens
R422Q	disease-associated missense variant	Homo sapiens
R422W	disease-associated missense variant	Homo sapiens
R503Q	disease-associated missense variant	Homo sapiens
R515L	disease-associated missense variant	Homo sapiens
R515Q	disease-associated missense variant	Homo sapiens
R515W	disease-associated missense variant	Homo sapiens
S505R	disease-associated missense variant	Homo sapiens
T115A	disease-associated missense variant	Homo sapiens
T19A	disease-associated missense variant	Homo sapiens
T337M	disease-associated missense variant	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
alpha-D-glucose 1-phosphate	Homo sapiens	-	D-glucose 6-phosphate	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P36871	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
alpha-D-glucose 1-phosphate	-	Homo sapiens	D-glucose 6-phosphate	-	?

Synonyms

Synonyms	Comment	Organism
PGM1	-	Homo sapiens
phosphoglucomutase 1	-	Homo sapiens

pI Value

Organism	Comment	pI Value Maximum	pI Value
Homo sapiens	calculated from amino acid sequence	-	6.3