Polymorphisms in human CRYGA-CRYGD genes in subjects of Indian origin
| Gene | bp (Acc No) | cDNA; aa | Frequency | |
|---|---|---|---|---|
| *Reported previously.22 | ||||
| †An additional set of seven samples from another source. | ||||
| Nomenclature: A of the ATG start codon is counted as nt 1; Met encoded by the start codon is counted as amino acid 1; exceptionally in the γD-crystallin, the first Met is not present.24 | ||||
| CRYGA | Intron A | 198G→A (M17315) | IVS1+82G→A; non-coding | 5/10 |
| Exon 3 | 196T→C (M17316) | 443C→T; L148P | 10/10 | |
| CRYGB | Promoter | 2104T→C (M19364)* | −47T→C; non-coding | 5/10 |
| Exon 2 | 2437C→T (M19364)* | 192C→T; P64P | 6/10 | |
| 2463G→T (M19364) | 218G→T; S73I | 2/10 | ||
| Exon 3 | 5372A→G (M19364) | 312A→G; S104S | 1/10 | |
| 5391C→A (M19364) | 331C→A; L111I | 4/10 | ||
| 3`-UTR | 5641T→C (M19364) | 580T→C; non-coding | 1/10 | |
| CRYGC | Exon 2 | 18542C→T (M19364) | 33C→T; A11A | 1/17† |
| 18652G→A (M19364) | 143A→G; R48H | 3/17† | ||
| CRYGD | Exon 2 | 286T→C (KO3005)* | 51T→C; Y16Y | 5/10 |
| Intron B | 517T→C (K03005) | IVS2+30T→C; non-coding | 11/11 | |
| Exon 3 | 74G→A (KO3006) | 285G→A; R94R | 7/12 | |
| 92A→G (KO3006) | 303A→G; Q100Q | 12/12 | ||
| 93G→A (KO3006) | 304G→A; V101M | 12/12 | ||
| 3`-UTR | 326C→T (K03006) | 537C→T; non-coding | 6/12 | |
| 353A→T (K03006) | 564A→T; non-coding | 2/12 | ||