Table 3 of Chen, Mol Vis 2009; 15:1359-1365.


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]