Table 5.

Assignment of likely NUDT15 Phenotype based on Genotype (CPIC, 2018)

Likely phenotypeaGenotypeExamples of diplotype
Normal metabolizerAn individual with 2 normal function alleles*1/*1
Intermediate metabolizerAn individual with one normal function allele PLUS one no function allele*1/*2, *1/*3
Possible intermediate metabolizerAn individual with one uncertain/unknown function allele PLUS one no function allele*2/*5, *3/*6
Poor metabolizerAn individual with 2 no function alleles*2/*2, *2/*3, *3/*3
IndeterminateAn individual with 2 uncertain function alleles
OR
one normal function allele plus one uncertain function allele		*1/*4, *1/*5 *4/*5, *5/*6

TPMT, thiopurine methyltransferase; NUDT15, Nudix (Nucleoside Diphosphate Linked Moiety X)-Type Motif 15

a

See TPMT and NUDT15 Frequency Table and Diplotype-Phenotype Table (3) for estimates of phenotype frequencies among different ethnic/geographic groups and for a more comprehensive list of predicted metabolizer phenotypes.

This CPIC table is adapted from (2).

From: Azathioprine Therapy and TPMT and NUDT15 Genotype

Cover of Medical Genetics Summaries
Medical Genetics Summaries [Internet].
Pratt VM, Scott SA, Pirmohamed M, et al., editors.
Copyright Notice

All Medical Genetics Summaries content, except where otherwise noted, is licensed under a Creative Commons Attribution 4.0 International (CC BY 4.0) license which permits copying, distribution, and adaptation of the work, provided the original work is properly cited and any changes from the original work are properly indicated. Any altered, transformed, or adapted form of the work may only be distributed under the same or similar license to this one.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.