Table 3.
SNP IDa | Site | Nucleotide change | Amino acid change | Number of allelese |
|||||
---|---|---|---|---|---|---|---|---|---|
Africans | Caucasians | Asians | Unknown | Positiond | |||||
AAb | APc | ||||||||
1671 | Promoter | ccgtg(G>A)ggttt | Non coding | 0/30 | 0/18 | 3/46 | 1/48 | 0/40 | -59 |
1673 | Promoter | ctggc(G>T)gcggc | Non coding | 1/30 | 0/18 | 0/46 | 0/46 | 0/40 | -36 |
1672 | IVS1+10 | gggag(G>C)gtggg | Non coding | 8/30 | 4/18 | 0/48 | 2/46 | 4/40 | +199 |
1669 | IVS1-44 | ccccg(G>A)cgccc | Non coding | 3/30 | 0/18 | 0/48 | 0/48 | 0/40 | +330 |
1670 | IVS1-5 | cctcc(C>T)acagc | Non coding | 0/30 | 0/18 | 0/48 | 1/48 | 0/40 | +369 |
1721 | Exon3 | gcgag(C>A)gcggc | Arg173Ser | 3/30 | 0/18 | 0/48 | 0/48 | 0/40 | +947 |
1720 | Exon3 | atgtt(C>A)cgaat | Phe186Leu | 0/30 | 0/18 | 1/48 | 0/48 | 0/40 | +988 |
1723 | IVS4+7 | tgagt (A>G)gcagc | Non coding | 4/30 | 1/16 | 0/48 | 1/46 | 2/40 | +1380 |
1722 | IVS4+8 | gagta(G>A)cagct | Non coding | 4/30 | 1/16 | 0/48 | 1/46 | 2/40 | +1381 |
1724 | IVS4-8 | actct(A>G)ttctt | Non coding | 0/30 | 0/18 | 1/48 | 0/48 | 0/40 | +1884 |
1726 | Exon 6 | tcggg(T>C)gtgtt | Cys358Arg | 0/30 | 0/18 | 0/48 | 1/46 | 0/40 | +2682 |
1725 | IVS6+69 | tgctg(T>G)ggctg | Non coding | 0/30 | 1/18 | 0/48 | 0/46 | 1/40 | +2901 |
1746 | Exon 7 | ggagg(C>G)cttag | Gly438Gly | 0/30 | 0/16 | 0/46 | 2/48 | 0/40 | +3190 |
The SNP ID numbers are from the NIEHS SNP database.
AA, African-American,
AP, African Pygmies.
Position number was based on the reference CYP26A1 gene sequence obtained from NCBI accession number, NT_030059.12 with the A of the start codon being +1, and negative numbers representing the upstream region. Intron changes are also denoted IVS followed the position relative to the exon . CYP26A1 was resequenced in DNA from 15 African-Americans (30 alleles), 9 African Pygmies (18 alleles), 24 Caucasians (48 alleles), 24 Asians (48 alleles) and 20 unknown racial group (40 alleles).