EPM2A F84L

Stable Identifier
R-HSA-3791363
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Laforin F84L
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
EPM2A
Chain
chain:1-331
Other Identifiers
0000380162
11726414_a_at
11742276_a_at
11757797_s_at
17024427
205231_3p_s_at
205231_s_at
210870_s_at
2977964
2977965
2977966
2977967
2977968
2977969
2977970
2977971
2977972
2977973
2977981
2977982
2977983
2977991
2977992
2977993
2977994
2977995
2978001
2978002
2978003
2978004
2978005
34249_at
4R30
4RKK
53643
55468
72754_at
7957
8130013
A_23_P170600
A_24_P239419
CCDS5206
ENSG00000112425
ENSP00000356489
ENSP00000405913
ENSP00000480268
ENSP00000480339
ENSP00000491180
ENSP00000491338
ENSP00000491353
ENSP00000492701
ENSP00000492876
ENST00000367519
ENST00000435470
ENST00000611340
ENST00000618445
ENST00000638262
ENST00000638778
ENST00000638783
ENST00000639423
ENST00000639465
EntrezGene:7957
EPM2A
EPM2A-201
EPM2A-202
EPM2A-207
EPM2A-208
EPM2A-209
EPM2A-213
EPM2A-214
EPM2A-217
EPM2A-218
g11321612_3p_a_at
g11321612_3p_s_at
g13528989_3p_a_at
GE55211
GO:0004721
GO:0004722
GO:0004725
GO:0005515
GO:0005634
GO:0005654
GO:0005737
GO:0005783
GO:0005789
GO:0005829
GO:0005844
GO:0005886
GO:0005975
GO:0005977
GO:0005978
GO:0006470
GO:0006914
GO:0007399
GO:0008138
GO:0016020
GO:0016239
GO:0016311
GO:0016787
GO:0016791
GO:0019203
GO:0030246
GO:0035335
GO:0042803
GO:0046838
GO:0046959
GO:0098556
GO:2001069
GO:2001070
H0UI04
H0Y6I8
HGNC:3413
HPA053643
HPA055468
Hs.486696
ILMN_1719468
ILMN_1788156
MIM:254780
MIM:607566
NM_001018041
NM_005670
NP_001018051
NP_005661
PF00686
PF00782
PH_hs_0026362
PH_hs_0033913
SM00195
SM01065
uc003qkw.4
uc063sax.1
uc063say.1
UPI000006E60E
UPI00000747BB
UPI00001414C4
UPI00003BF71F
XM_006715564
XM_011536116
XP_006715627
XP_011534418
Participant Of
Other forms of this molecule
Modified Residues
Name
L-phenylalanine 84 replaced with L-leucine
Coordinate
84
PsiMod HEY
A protein modification that effectively removes or replaces an L-phenylalanine.
A protein modification that effectively converts a source amino acid residue to an L-leucine.
Disease
Name Identifier Synonyms
glycogen storage disease 2747 glycogenosis
Cross References
Brenda
GeneCards
DOCK Blaster
ZINC target
PRO
Orphanet
HMDB Protein
PDB