Table 4.
Activity score assigned to each tested variant in the PAS model.
| Tested Allelic | Variants | Functional consequence | Activity score | Defining SNP |
|---|---|---|---|---|
| CYP2A6 | *2 | No function | 0 | 479T > A |
| *4 | No expression | 0 | Gene deletion | |
| *9 | Decreased | +0.5 | - 48T > G | |
| *12 | Decreased | +0.5 | Hybrid allele with CYP2A7 | |
| *1xN | Increased | +2 | Multiple copies | |
| CYP2D6 | *2 | Normal | +1 | 2851C > T 4181 G > C |
| *4 | No function | 0 | 1847 G > Aa | |
| *5 | No expression | 0 | Gene deletion | |
| *9 | Decreased | +0.5 | 2616 del AGG | |
| *10 | Decreased | +0.5 | 100C > T 4181 G > C |
|
| *35 | Normal | +1 | 31G > A 2851C > T 4181 G > C |
|
| *41 | Decreased | +0.5 | 2989 G > A 2851C > T 4181 G > C |
|
| *1xN | Increased | +2 | Multiple copies | |
| *2xN | ||||
| *35xN |
a
*4 sub-alleles can commonly present other SNPs such as 100C > T, 4181 G > C and/or 2851C > T.