Allele | Mutation | Consequence | Allele Frequency | |||
---|---|---|---|---|---|---|
European Caucasian | Orientals | Black Africans | Ethiopians and Saudi Arabians | |||
% | ||||||
2D6*2xN | Gene duplication or multiduplication | Increased enzyme activity | 1–5 | 0–2 | 2 | 10–16 |
2D6*4 | Defective splicing | Inactive enzyme | 12–21 | 1 | 2 | 1–4 |
2D6*5 | Gene deletion | No enzyme | 2–7 | 6 | 4 | 1–3 |
2D6*10 | Pro34Ser, Ser486Thr | Unstable enzyme | 1–2 | 51 | 6 | 3–9 |
2D6*17 | Thr110Ile, Arg296Cys, Ser486Thr | Reduced affinity for substrates | 0 | N.D. | 34 | 3–9 |
Modified from Ingelman-Sundberg et al. (1999).
N.D., not determined.