Structure-Function Correlation Analysis of Connexin50 Missense Mutations Causing Congenital Cataract: Electrostatic Potential Alteration Could Determine Intracellular Trafficking Fate of Mutants

Table 2

Structural parameters studied in 9 functionally uncharacterized pathogenic Cx50 mutations.

Sl. number	Mutation	Location in protein	Monomer			Oligomeric complex
			Change in electrostatic potential	H-bonding alteration	Steric clash induction	Side chain orientation—towards intersubunit interface	Steric clash induction with adjacent subunit
1	I31T	TM1	No	No change	No	Yes	No
2	T39R	TM1	Yes	No change	No	Yes	Yes
3	G46R	TM1-EC1 junc.	Yes	No change	No	Yes (R46)	No
4	D47H	TM1-EC1 junc.	Yes	Loss of 1 H-bond	Yes	Yes	No
5	D47Y	TM1-EC1 junc.	Yes	Loss of 1 H-bond	No	Yes	No
6	V64G	EC1	No	No change	No	No	No
7	P189L	EC2	No	No change	No	No	No
8	V196M	EC2	No	No change	No	No	No
9	P199S	EC2	No	No change	No	No	No

TM: transmembrane domain; EC: extracellular loop.