Amino
 acid                        Cataract                                                  Family
change       Location          type                Phenotype description               origin     Reference
------   ----------------   -----------   ----------------------------------------   ----------   ---------
D3Y      NH2-terminal       Zonular       Progressive zonular pulverulent cataract   Hispanic       [34]
         cytoplasmic loop   pulverulent
L11S     NH2-terminal       Ant-egg       Lamellar cataract with dense ant-egg       Danish          [8]
         cytoplasmic loop                 like structures imbedded in the lens,
                                          primarily confined to the perinuclear
                                          layers and to lesser degree in the fetal
                                          nucleus
V28M     First              Variable      Variable cataract types like total,        Indian         [24]
         transmembrane                    anterior capsular cataract with
         domain                           posterior cortical opacities in
                                          different individuals
F32L     First              Nuclear       Punctate opacities in the central zone     Chinese        [26]
         transmembrane      pulverulent   of the lens limited to the embryonal
         domain                           nucleus
R33L     First              Finely        A band of opacities formed by numerous     Indian        Present
         transmembrane      granular      granular opacities with diffused edges                    study
         domain             embryonal     on either side involving embryonal
                                          nucleus. Optical section of the lens
                                          shows slit like or hollow discus like
                                          clear area surrounded by thick finely
                                          granular opacity
W45S     First              Nuclear       Progressive nuclear cataract               Chinese        [35]
         extracellular
         loop
P59L     First              Nuclear       Coarse punctate opacities located in the   American       [33]
         extracellular      punctate      central or nuclear region of the lens
         loop
N63S     First              Zonular       Coarse and granular opacities in the       Caucasian      [19]
         extracellular      pulverulent   central zone of the lens. Fine dust-like
         loop                             opacities predominated in the peripheral
                                          zone of the lens.
R76G     Boundary of        Total         Total lens opacification                   Indian         [24]
         first
         extracellular
         loop and second
         transmembrane
         domain
R76H     Boundary of        Nuclear       Faint lamellar nuclear opacity             Australian     [36]
         first              pulverulent   surrounding pulverulent nuclear
         extracellular                    opacities, some with fine gold dots or
         loop and second                  haze and some with needle-like
         transmembrane                    peripheral riders
         domain
T87M     Second             Pearl box     A bunch of white spots in the embryonal    Indian         [37]
         transmembrane                    nucleus. The central white spots
         domain                           distributed in a radial manner. The
                                          space between the surface opacity and
                                          central white spots was optically empty
P187L    Second             Zonular       Central dust-like opacity affecting the    Caucasian      [38]
         extracellular      pulverulent   embryonal, fetal and infantile nucleus
         loop                             of the lens surrounded by snowflake-like
                                          opacities in the anterior and posterior
                                          cortical region of the lens
N188T    Second             Nuclear       Progressive, central pulverulent opacity   Chinese        [39]
         extracellular      pulverulent   affecting the embryonal, fetal and
         loop                             infantile nucleus of the lens
S380fs   COOH-terminal      Zonular       Coarse and granular opacities in the       Caucasian      [19]
         cytoplasmic loop   pulverulent   central zone of the lens. Fine dust-like
                                          opacities predominated in the peripheral
                                          zone of the lens