EPM2A P301L [cytosol]

Stable Identifier
R-HSA-3791357
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
Laforin P301L
Icon
EPM2A P301L [cytosol] icon
EPM2A P301L [cytosol] icon
Locations in the PathwayBrowser
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External Reference Information
External Reference
UniProt:O95278 EPM2A
Gene Names
EPM2A
Chain
chain:1-331
Reference Genes
COSMIC (genes):EPM2A O952786
dbSNP Gene:7957 O952786
ENSEMBL:ENSG00000112425 EPM2A
Participates
as a member of
Other forms of this molecule
EPM2A F84L [cytosol]
EPM2A T194I [cytosol]
K48polyUb-EPM2A [cytosol]
EPM2A [cytosol]
Modified Residues
Name
L-proline 301 replaced with L-leucine
Coordinate
301
PsiMod
L-leucine residue [MOD:00020]
A protein modification that effectively converts a source amino acid residue to an L-leucine.
L-proline removal [MOD:01645]
A protein modification that effectively removes or replaces an L-proline.
Disease
Name Identifier Synonyms
glycogen storage disease DOID:2747 glycogenosis
Interactors (3)
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