Characterization of genotype–phenotype correlation with MORC2 mutated Axonal Charcot–Marie–Tooth disease in a cohort of Chinese patients

Table 3 Summary of the molecular consequences of neuropathic and structure-based mutants of MORC2

Mutation	Activity relative to wild-type MORC2		Position in structure	Proposed mechanism of MORC2 misregulation
Mutation	ATPase	HUSH	Position in structure	Proposed mechanism of MORC2 misregulation
S87L	Lower	Higher	ATP lid	Constitutive N-terminal dimerization
R132L	Not determined	Not determined	ATPase core	Destabilize ATPase
E236G	Not determined	Not determined	ATPase core	Destabilize ATPase
R252W	Lower	Higher	ATPase-CW interface	Destabilize ATPase-CW module
Q400R	Not determined	Not determined	ATPase core	Destabilize ATPase
T424R	Higher	Lower	Dimer interface	Perturb dimerization dynamics
D466N	Not determined	Not determined	ATPase surface	Destabilize ATPase

ISSN: 1750-1172