TABLE 2

Frequency of UGT1A8 variants in the Caucasian and African-American populations

Newly identified SNPs are in bold.

Nucleic Acid Changes
Amino Acid Changes
Genotype Frequency
SNP Frequency
Homozygous
Heterozygous
Homozygous Variant
% %
Caucasians (n = 254 subjects)
90 A>G V30V 99.6 0.4 0.0 0.2
376 A>G S126G 99.6 0.4 0.0 0.2
431 C>T A144V 97.2 2.8 0.0 1.4
441 C>T L147L 94.9 4.3 0.8 3.0
518 C>G A173G 55.9 40.6 3.5 23.8
691 G>A A231T 99.6 0.4 0.0 0.2
718 A>G T240A 99.6 0.4 0.0 0.2
765 A>G T255T 74.8 23.6 1.6 13.4
803 T>C N268N 99.6 0.4 0.0 0.2
830 G>A C277Y 97.6 2.4 0.0 1.2
883 G>A IVS1+27a 99.6 0.4 0.0 0.2
African Americans (n = 41 subjects)
128 C>T S43L 97.6 2.4 0.0 1.2
157 C>A H53N 97.6 2.4 0.0 1.2
431 C>T A144V 97.6 2.4 0.0 1.2
518 C>G A173G 87.8 12.2 0.0 6.1
765 A>G
T255T
75.6
19.5
4.9
14.6

  • ↵ a IVS1+27: intronic variation 27 base pairs downstream of exon 1.