Skip to main content
. Author manuscript; available in PMC: 2011 Jan 1.
Published in final edited form as: Mol Genet Metab. 2010 Jan;99(1):90–97. doi: 10.1016/j.ymgme.2009.08.009

Table 1.

Summary of point mutations and splice variants identified in the 5’ 600 bp region of CYP2D6 cDNAs isolated from human liver samples.

Human Liver
Sample		 Number of
Constructs
Identified		 Nucleotide
Change		 Effect Allele
Nomenclature
123 1 100C>T;
974C>A;
984A>G		 P34S; L91M;
H94R		 CYP2D6*4a
127 2 1. 911A>G 1. S70G, exon 3
   skipped
2. None 2. Wild-type
130 2 1. 36A>G 1. I12M, exon 3
   skipped
2. None 2. Wild-type
136 1 992G>A D97N, exon 3
skipped
141 1 100C>T;
974C>A;
984A>G;
1846G>A		 P34S. L91M,
H94R, exon 4
deletion (first
12 amino acids)		 CYP2D6*4A,
B, F, G, H, Jb
a

This construct has point mutations characteristic of the *4 group of alleles, but lacks the splicing defect that is seen in all other members of this group.

b

The complement of point mutations identified in this construct and the presence of a splicing defect is similar to that found in a variety of *4 group members. Sequencing of the full-length cDNA would be required to determine which subgroup this construct belongs to.