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