Molecular Vision: Yao, Mol Vis 2011; 17:144-152. Table 2

Table 2. Previous CRYBB2 gene mutations associated with congenital cataracts.

Bp exchange	Aa exchange	Biologic consequence	Origin of family	Reference
Human mutations
c. G607A	p. V187M	Nuclear cataract	Basotho	[36]
c. C475T	p. Q155X	Sutural opacity and fish tail-like branches	American	[37]
c. C475T	p. Q155X	Cerulean	American	[8]
c. C475T	p. Q155X	ADCC	Canadian	[38]
c. C475T	p. Q155X	ADCC	Chilean	[39]
c. C475T	p. Q155X	Progressive polymorphic coronary ADCC	Indian	[40]
c. C92T	p. S31W	Coronary cataract	Chinese	[41]
c. C475T	p. Q155X	Cerulean ADCC	Chinese	[42]
c. C475T	p. Q155X	Progressive polymorphic	Chinese	[43]
c. G465T	p. W151C	Central nuclear	Indian	[44]
c. A383T	p. D128V	Dominant ring-shaped cortical cataract	Germany	[45]
c.C489A	p. Y159X	ADCC	Danish	[46]
c.C433T	p. R145W	ADCC	Danish	[46]
c.A440G	p. Q147R	ADCC	Danish	[46]
c.C449T	p. T150M	ADCC	Danish	[46]
Mouse mutations
Intron 5:_57 A->T	Splicing: 19 new amino acids in front of exon 6	Progressive cataract		[47]
c. T560A	p. V187Q	Progressive cataract		[35]
585–587 Deletion	195–198 ΔQSVR	Progressive cataract		[48,49]