CYP2D6 Allele | Count1 (Allele Frequency) | Activity Value | Remarks |
---|---|---|---|
Normal-function allele | |||
*1 | 48 (0.253) | 1.0 | Wild-type allele |
*2 | 17 (0.089) | Contains an expression-decreasing variant, 2850 C > T, whose effect is offset by two distant enhancer variants | |
*39 | 3 (0.016) | Defined by two variants also present in *2, 1661G > C and 4180G > C | |
Decreased-function allele | |||
*10 | 84 (0.442) | 0.25 | Prevalent in Asian populations |
*41 | 15 (0.079) | 0.5 | Decreases the level of full-length transcripts |
Loss-of-function allele | |||
*4 | 6 (0.032) | 0 | CYP2D6 protein truncated by erroneous splicing and frameshifting; a common defective allele in Caucasians |
*5 | 15 (0.079) | Whole-gene deletion | |
Uncertain functional significance | |||
*43 | 1 (0.005) | Unknown | A decreased-function allele that has not yet received an official CPIC activity value |
*71 | 1 (0.005) | May be a poor-metabolizer allele, through its adverse effect on the insertion of the CYP2D6 protein into the membranes of endoplasmic reticulum | |
TOTAL | 190 (1) |