I genotypes and IGnT enzyme activities of the i adults without and with congenital cataracts
| i Adult group . | Patient no. . | Igenotype . | Enzyme activity . | ||||
|---|---|---|---|---|---|---|---|
| IGnTA . | IGnTB . | IGnTC . | IGnTA . | IGnTB . | IGnTC . | ||
| Without congenital cataracts | JCC | WT | WT | 505/505 | √ | √ | X |
| 97013 | ND | ND | 505/505 | ND | ND | X | |
| 987UI | ND | ND | 505/505 | ND | ND | X | |
| 944C2 | ND | ND | 505/505 | ND | ND | X | |
| 1110Y2 | ND | ND | 505/505 | ND | ND | X | |
| 1110X3 | WT | WT | 505/683 | √ | √ | X | |
| With congenital cataracts | W-3 | 1049/1154 | 1043/1148 | 1049/1154 | X | X | X |
| W-5 | 1049/1154 | 1043/1148 | 1049/1154 | X | X | X | |
| S-6 | 1049/1049 | 1043/1043 | 1049/1049 | X | X | X | |
| S-7 | 1049/1049 | 1043/1043 | 1049/1049 | X | X | X | |
| C-3 | Deletion | Deletion | Deletion | X | X | X | |
| i Adult group . | Patient no. . | Igenotype . | Enzyme activity . | ||||
|---|---|---|---|---|---|---|---|
| IGnTA . | IGnTB . | IGnTC . | IGnTA . | IGnTB . | IGnTC . | ||
| Without congenital cataracts | JCC | WT | WT | 505/505 | √ | √ | X |
| 97013 | ND | ND | 505/505 | ND | ND | X | |
| 987UI | ND | ND | 505/505 | ND | ND | X | |
| 944C2 | ND | ND | 505/505 | ND | ND | X | |
| 1110Y2 | ND | ND | 505/505 | ND | ND | X | |
| 1110X3 | WT | WT | 505/683 | √ | √ | X | |
| With congenital cataracts | W-3 | 1049/1154 | 1043/1148 | 1049/1154 | X | X | X |
| W-5 | 1049/1154 | 1043/1148 | 1049/1154 | X | X | X | |
| S-6 | 1049/1049 | 1043/1043 | 1049/1049 | X | X | X | |
| S-7 | 1049/1049 | 1043/1043 | 1049/1049 | X | X | X | |
| C-3 | Deletion | Deletion | Deletion | X | X | X | |
The numbers 505, 683, 1043, 1049, 1148, and 1154 represent the G > A change at respective nucleotide positions.
WT indicates wild type; ND, not determined; √, normal enzymatic activity, X, decreased enzymatic activity.