Table 3. Mutations in human CRYAB.

Nucleotide position	Base-pair exchange	Amino acid position	Amino acid exchange	Associated pathologies	Reference
32	G→A	11	Arg→His	Dominant nuclear cataract	Present study
58	C→T	20	Pro→Ser	Dominant posterior polar cataract	[15]
358	A→G	120	Arg→Gly	Desmin-related myopathy and cataract	[16]
418	G→A	140	Asp→Asn	Dominant lamellar cataract	[17]
450	delA	150	Frameshift	Dominant posterior polar cataract	[18]
451	C→T	151	Arg→stop	Desmin-related myopathy	[19]
460	G→A	154	Gly→Ser	Dilated cardiomyopathy	[20]
464	delCT	155	Frameshift	Desmin-related myopathy	[19]
470	G→A	157	Arg→His	Dilated cardiomyopathy	[21]
514	G→A	171	Ala→Thr	Dominant lamellar cataract	[22]

αB-Crystallin gene mutations identified in the present study and other previous studies which were associated with congenital cataract and/or myopathy.