. Author manuscript; available in PMC: 2015 Oct 30.

Published in final edited form as: Physiol Rev. 2010 Jan;90(1):179–206. doi: 10.1152/physrev.00034.2009

TABLE 1.

Connexin mutations in humans

Gene/Mutated Residue/Domain	Phenotypes
Cx50/R23T/NH₂ terminal	Dominant/progressive congenital nuclear cataract (220)
Cx50/V44E/E1 loop	Whole cataract with variable myopia microcornea (50)
Cx50/W45S/E1 loop	Bilateral cataract (201)
Cx50/D47N/E1 loop	Dominant nuclear pulverulent opacity, altered trafficking, a loss of function (7)
Cx50/D48K/E1 loop	Dominant nuclear pulverulent opacity (20)
Cx50/G64V/E1 loop	Dominant nuclear cataract (238)
Cx50/V79L/TM2	“Full moon” with Y-suture opacity (199)
Cx50/P88S/TM3	Zonular pulverulent cataract (182)
Cx50/P88Q/TM3	Lamellar pulverulent (7) or balloonlike cataracts (200)
Cx50/P189L/E2 loop	Star-shaped nuclear opacity with a whitish core (88)
Cx50/R198Q/COOH terminal	Posterior subcapsular cataract with variable myopia and microcornea (50)
Cx50/I274M/COOH terminal	Zonular pulverulent cataract (162)
Cx50/S276F/COOH terminal	Pulverulent nuclear cataract (227)
Cx50/255 frameshift/COOH terminal	Recessive triangular cataract (175)
Cx50/203 frameshift/COOH terminal	Recessive cataract (163)
Cx46/D3Y/NH₂ terminal	Dominant zonular pulverulent cataract (1)
Cx46/L11S/NH₂ terminal	Ant-eggs cataract (88)
Cx46/V28M/TM1	Varied cataracts (49)
Cx46/F32L/TM1	Dominant nuclear pulverulent opacity (97)
Cx46/R33M/TM1	Finely granular embryonic cataract (85)
Cx46/W45S/E1 loop	Progress nuclear cataract (123)
Cx46/P59L/E1 loop	Dominant nuclear punctuate cataract (19)
Cx46/N63S/E1 loop	Dominant cataract (124)

Cx, connexin. Reference numbers are given in parentheses.