TABLE 1

Coding region variants of CNT1 identified in ethnically diverse populations Data are available in Leabman et al. (2003) and at http://www.pharmgkb.org. cDNA numbers are relative to the ATG start site and based on the cDNA sequence from GenBank accession number U62968. Common variants (≥ 20%) are shown in bold. Singletons are shown in italics. Columns under Frequency refer to the frequencies of each variable site in each ethnic group. Some samples contained amplicons that could not be sequenced. Therefore, allelic frequencies are based on nonmissing data.

Exon Nucleotide Position Nucleotide Change Amino Acid Position Amino Acid Change Frequency
Total AA EA AS
%
1 9 C→T 3 syn 4.2 10.5 0 0
1 38 C→G 13 Ser→Cys 0.4 1.1 0 0
2 124 T→C 42 syn 0.8 0.5 1.5 0
2 128 G→A 43 Ser→Asn 1 2.5 0 0
2 132 C→G 44 syn 0.2 0.5 0 0
4 295 C→T 99 syn 0.4 1 0 0
4 419 T→+TTG 140 Leu→INS 29.1 31.5 32 18.3
5 565 G→A 189 Val→Ile 26.1 18.9 28.5 35
5 568 G→T 190 Ala→Ser 1.8 2.6 2 0
6 630 A→T 210 syn 4 9.5 0 0
6 689 C→T 230 Ala→Val 0.4 0 0 3.3
6 705 C→T 235 syn 0.2 0.5 0 0
6 709 C→A 237 Gln→Lys 19.6 14.5 19.5 28.3
8 835 G→A 279 Val→Ile 0.2 0.5 0 0
10 969 A→G 323 syn 0.2 0 0 1.7
10 1017 C→T 339 syn 11.8 3.5 7 53.4
11 1098 G→A 366 syn 0.2 0.5 0 0
11 1149 G→A 383 syn 42.9 32 34.8 93.3
11 1153 G→- 385 Val→DEL 1.2 3 0 0
12 1234 G→C 412 Glu→Gln 0.2 0.5 0 0
12 1368 G→A 456 syn 9.2 6.5 14.3 3.3
13 1405 C→A 469 syn 0.8 2 0 0
13 1528 C→T 510 Arg→Cys 7.3 4.5 0.5 43.3
13 1561 G→A 521 Asp→Asn 26.2 10 51.1 3.4
14 1636 T→C 546 Ser→Pro 0.2 0.5 0 0
16 1821 C→T 607 syn 0.2 0.5 0 0
17 1880 A→G 627 Asn→Ser 0.2 0.5 0 0
17 1903 C→G 635 Leu→Val 0.2 0 0 1.7

  • Total, entire sample; AA, African American; EA, European American; AS, Asian American.