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 |