BioMed Research International / 2014 / Article / Tab 1 / Research Article
Structure-Function Correlation Analysis of Connexin50 Missense Mutations Causing Congenital Cataract: Electrostatic Potential Alteration Could Determine Intracellular Trafficking Fate of Mutants Table 1 Summary of the functional parameters previously reported for 12 disease-causing Cx50 missense mutations.
Sl. number
Mutation Functional study
Ref. number Trafficking (localization, if reported) Gap junction channel Inhibitory to WT Cx50 1 R23T Impaired (cytoplasm) N.F. Yes [20 ]
2 V44E Proper N.F. Yes [21 ]
3 W45S Proper N.F. Yes [27 ]
4 G46V Proper F. (conductance similar to WT) No [27 , 28 ]
5
D47N Impaired (cytoplasm)
proper trafficking at 27°C.
N.F. No [22 ] Impaired N.F. No [21 ]
6 E48K
Not studied
Predicted: impairedN.F. Yes [30 ]
7 V79L Proper F. (lower conductance) Yes [21 ]
8
P88S
Not studied
N.F. Yes [23 ] Impaired (cytoplasm and appositional membranes) N.F. Yes [24 ]
9 P88Q Impaired (cytoplasm)
proper trafficking at 27°C.
N.F. Yes [25 ]
10 R205G(Gja8)* R198W/Q Impaired Predicted: Impaired N.F. Predicted: N.F. Yes — [26 ] —
11 E201K Impaired (cytoplasm)
Not studied
Predicted: N.F.
Not studied
[29 ]
12 I247M Proper F. (conductance similar to WT)
Not studied
[38 ]
F.: functional; N.F.: nonfunctional; ER: endoplasmic reticulum.
*R205(Gja8) is functionally characterized in mouse model. R205(Gja8) corresponds to R198(GJA8) in human Cx50, bearing mutations R198Q and R198W, neither of which is functionally characterized.