Journal of Ophthalmology / 2016 / Article / Tab 3

Research Article

A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family

Table 3

Mutations previously described in the CRYBB2 gene associated with congenital cataracts in human.

Bp exchangeAa exchangeBiologic consequenceOrigin of familyReference

c.C5Tp.A2VPosterior subcapsularChinese[26]
c.T62Ap.I21NADCCChinese[27]
c.C92Gp.S31WCoronary cataractChinese[28]
c.G54Ap.(=)ADCCIndian[29]
p.W59CADCCIndian[29]
c.A383Tp.D128VADCCGerman[30]
c.C428Tp.S143FADCCItalian[31]
c.C433Tp.E145WADCCDanish/German[32, 33]
c.G436Tp.V146MADCCChinese[27]
c.A440Gp.Q147RADCCDanish/German[32, 33]
c.C449Tp.T150MADCCDanish/German[32, 33]
c.G465Tp.W151CADCCChinese[34]
Central nuclearIndian[35]
c.C475Tp.Q155XSutural opacity and fish tail-like branchesAmerican[36]
CeruleanAmerican[37]
ADCCCanadian[6]
ADCCChilean[38]
Progressive polymorphic coronary ADCCIndian[9]
Cerulean ADCCChinese[39]
Progressive polymorphicChinese[8]
c.C477Ap.Y159XADCCDanish[32]
c.G607Ap.V187MNuclear cataractBasotho[40]
c.G563Ap.R188HADCCGerman[41]

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