Table 4 of Kumar, Mol Vis 2013; 19:2436-2450.

Table 4. Summary of the mutations identified in CRYBA4, CRYBB1, CRYBB2 and GJA3 genes with different congenital cataract phenotypes belonging to different populations (Cat-Map).

Gene Exon/ Intron DNA Change Coding Change Pattern of Inheritance Origin Cataract Phenotype
CRYBB2 Ex2 c.5C>T p.A2V AD China Congenital posterior subcapsular
Ex2 c.54G>A p.K18KfsX17 India Congenital zonular
Ex2 c.62T>A p.I21N China Nuclear
Ex2 c.92C>G p.S31W AD China Coronary
Ex4 c.177G>C p.W59C AD India Total
Ex5 c.383A>T p.D128V AD Germany Nuclear, “ring-shaped” cortical
Ex5 c.(433C>T; 440A>G; 449C>T) p.(R145W; Q147R; T150M) ? Denmark ?
Ex5 c.436G>A p.V146M AD? China Nuclear (Microcornea)
Ex6 c.452G>C p.W151C AD India Central nuclear
Ex6 c.463C>T, c.471C>T p.Q155X AD USA Cerulean
Ex6 c.463C>T, c.471C>T p.Q155X AD Switzerland Central zonular pulverulent
Ex6 c.463C>T, c.471C>T p.Q155X AD India Sutural cerulean
Ex6 c.463C>T, c.471C>T p.Q155X AD China Progressive polymorphic
Ex6 c.463C>T, c.471C>T p.Q155X AD Chile Variable
Ex6 c.463C>T, c.471C>T p.Q155X AD China Progressive polymorphic coronary
Ex6 c.463C>T, c.471C>T p.Q155X ? India Cortical, pulverulent
Ex6 c.463C>T, c.471C>T p.Q155X AD China Cerulean
Ex6 c.477C>A p.Y159X ? Denmark ?
Ex6 c.607G>A p.V187M AD Lesotho Nuclear (Strabismus)
CRYBB1 Ex1 c.2T>A p.M1K AR Somalia Nuclear, pulverulent
Ex2 c.171delG p.G57GfsX107 (p.N58TfsX106) AR Israel Nuclear
Ex6 c.658G>T p.G220X AD USA Central sutural pulverulent
Ex6 c.667C>T p.Q223X AD China Nuclear progressive
Ex6 c.682T>C p.S228P AD China Nuclear (Nystagmus)
Ex6 c.698G>A p.R233H AD China Nuclear (Nystagmus)
Ex6 c.757T>C p.X253RextX27 AD UK Nuclear cortical riders (Microcornea)
CRYBA4 Ex4 c.190G>T p.G64W China Congenital nuclear (Microcornea)
Ex4 c.206T>C p.L69P AD India ? (Microphthalmia)
Ex4 c.281T>C p.F94S AD India Lamellar
GJA3 Ex2 c.-39C>G Cx China Age-related nuclear
Ex2 c.5G>A p.G2D AD China Nuclear pulverulent, Posterior polar
Ex2 c.7G>T p.D3Y AD Honduras Zonular pulverulent
Ex2 c.32T>C p.L11S AD Denmark “Ant-egg”
Ex2 c.56C>T p.T19M AD India Posterior polar
Ex2 c.82G>A p.V28M AD India Total, anterior capsular, cortical
Ex2 c.96C>A p.F32L AD China Nuclear pulverulent
Ex2 c.98G>T p.R33L AD India Granular embryonal
Ex2 c.130G>A p.V44M AD China Central nuclear (punctate cortical)
Ex2 c.130G>A p.V44M AD USA ?
Ex2 c.134G>C p.W45S AD China Nuclear
Ex2 c.139G>A p.D47N AD China Nuclear
Ex2 c.176C>T p.P59L AD USA Nuclear punctate
Ex2 c.176C>T p.P59L AD Denmark ?
Ex2 c.176C>T p.P59L AD China ?
Ex2 c.188A>G p.N63S AD UK Variable pulverulent
Ex2 c.226C>G p.R76G AD India Total
Ex2 c.227G>A p.R76H AD Australia Nuclear lamellar pulverulent
Ex2 c.227G>A p.R76H AD Denmark Lamellar, sutural
Ex2 c.260C>T p.T87M AD India “Pearl-box”
Ex2 c.415G>A p.V139M Cx China Age-related cortical
Ex2 c.560C>T p.P187L AD UK Zonular pulverulent
Ex2 c.559C>T p.P187S AD China Nuclear pulverulent
Ex2 c.563A>C p.N188T AD China Nuclear pulverulent
Ex2 c.1137insC p.S380QfsX87 AD UK Punctate
Ex2 c.1143_1165del23 p.381fs*48 AD China Punctate nuclear
BFSP1 Ex6 c.736–957del p.T246del74fsX6 AR India Cortical progressive, juvenile onset