Table 1. Reported mutations in GJA3 associated with different congenital cataract phenotypes in different families.

Amino acid change	Location	Cataract type	Phenotype description	Family origin	Reference
D3Y	-NH2 terminal cytoplasmic loop	Zonular pulverulent	Progressive zonular pulverulent cataract	Flispanic	[27]
L11S	-NH2 terminal cytoplasmic loop	Ant-egg	Lamellar cataract with dense ant-egg like structures imbedded in the lens, primarily confined to the perinuclear layers and to lesser degree in the fetal nucleus	Danish	[9]
V28M	First transmembrane domain	Variable	Variable cataract types like total, anterior capsular cataract with posterior cortical opacities in different individuals	Indian	[28]
F32L	First transmembrane domain	Nuclear pulverulent	Punctate opacities in the central zone of the lens limited to the embryonal nucleus	Chinese	[29]
W45S	First extracellular loop	Nuclear	Progressive nuclear cataract	Chinese	[30]
P59L	First extracellular loop	Nuclear punctate	Coarse punctate opacities located in the central or nuclear region of the lens	American	[31]
N63S	First extracellular loop	Zonular pulverulent	Coarse and granular opacities in the central zone of the lens. Fine dust-like opacities predominated in die peripheral zone of the lens.	Caucasian	[11]
R76G	Boundary of first extracellular loop and second transmembrane domain	Total	Total leas opacification	Indian	[28]
R76H	Boundary of first extracellular loop and second transmembrane domain	Nuclear pulverulent	Faint lamellar nuclear opacity surrounding pulverulent nuclear opacities, some with fine gold dots or haze and some with needle-like peripheral riders	Australian	[32]
T87M	Second transmembrane domain	Pearl box	A bunch of white spots seen in the embryonal nucleus. The central white spots distributed in a radial manner. The space between the surface opacity and central white spots is optically empty. Surface opacity gives the appearance of a box while central white spots as of pearls in it.	Indian	Present study
P187L	Second extracellular loop	Zonular pulverulent	Central dust-like opacity affecting the embryonal, fetal and infantile nucleus of the lens surrounded by snowflake-like opacities in the anterior and posterior cortical region of the lens	Caucasian	[33]
N188T	Second extracellular loop	Nuclear pulverulent	Progressive, central pulverulent opacity affecting the embryonal, fetal and infantile nucleus of the lens	Chinese	[34]
S380fs	-COOH terminal cytoplasmic loop	Zonular pulverulent	Coarse and granular opacities in the central zone of the lens. Fine dust-like opacities predominated in die peripheral zone of the lens.	Caucasian	[11]

Mutation spectrum of the connexin 46 (GJA3) gene and cataract phenotypes in different congenital cataract families.