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EC Number
Protein Variants
Commentary
Reference
3.4.22.54
A101K
limb-girdle muscular dystrophy 2A
700440
3.4.22.54
A489W
limb-girdle muscular dystrophy 2A
700440
3.4.22.54
A490W
limb-girdle muscular dystrophy 2A
700440
3.4.22.54
A748Q
limb-girdle muscular dystrophy 2A
700440
3.4.22.54
A788S
limb-girdle muscular dystrophy 2A
700440
3.4.22.54
C129S
inactive
708654
,
717589
,
718257
,
731896
,
732188
3.4.22.54
C129S
inactive mutant enzyme
755000
3.4.22.54
C129S
it is difficult to efficiently express the mutant enzyme C129S
649029
3.4.22.54
C129S
protease-inactive mutant form
709121
3.4.22.54
C129S
proteolytically inactive
698178
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