Amino
 acid      Location/      Cataract                                 Origin of
change    GJA8 domain       type         Phenotype description      Family     Reference
------   -------------   -----------   -------------------------   ---------   ---------
R23T     Cytoplasmic     Congenital    Progressive, dense          Iranian     [39]
         N-terminal      nuclear       nuclear (fetal/
                                       embryonal)

V44E     First           Congenital    Total lens opacification    Indian      [40]
         transmembrane   cataract
         domain (M1)     and
                         microcornea

E48K     First           Zonular       Non-progressive, fine       Pakistani   [41]
         extracellular   nuclear       dust-like opacities, more
         loop (E1)       pulverulent   dense throughout the
                                       nucleus. Several cortical
                                       riders in the zonular
                                       region.

V79L     Second          Full moon     Stationary cataract both    Indian      Present
         transmembrane   like with     Y-sutures affected. No                  study
         domain (M2)     Y-sutural     opacities in embryonal
                         opacities     nucleus, fine granular
                                       white opacity outside the
                                       embryonal nucleus in the
                                       fetal nuclear region.

P88S     Second          Zonular       Non-progressive,            English     [29]
         transmembrane   pulverulent   innumerable powdery
         domain (M2)                   opacities located in the
                                       nuclear and lamellar
                                       zones. Affects both the
                                       embryonic and fetal
                                       nucleus: "total nuclear
                                       cataract."

R198Q    Second          Cataract      Posterior subcapsular       Indian      [40]
         extracellular   and
         loop (E2)       microcornea

I247M    Cytoplasmic     Zonular       Progressive, non            Russian     [31]
         C-terminus      pulverulent   homogeneous opacity
                                       consisting of opaque
                                       particles of different
                                       sizes, most of these very
                                       small, distributed
                                       unequally in a disc of 5
                                       mm in diameter in the
                                       center of the lens. Also
                                       a slightly cloudy
                                       inhomogeneous area of 2
                                       mm at posterior pole.