Table 1.
Human DCK and CMPK polymorphisms.
| DCK | ||||||||
|---|---|---|---|---|---|---|---|---|
| Gene Location |
Nucleotide | Sequence Change |
Amino Acid Change |
MAF | HapMap and/or dbSNP |
|||
| AA | CA | HCA | MA | |||||
| 5'-FR | −822 | G>A | 0.000 | 0.025 | 0.000 | 0.008 | ||
| 5'-FR | −698 to −697 | TA deletion | 0.208 | 0.033 | 0.208 | 0.108 | ||
| 5'-FR | −520 | G>A | 0.000 | 0.000 | 0.008 | 0.000 | ||
| 5'-FR | −289 | T>A | 0.000 | 0.000 | 0.017 | 0.000 | ||
| 5'-FR | −248 | G>C | 0.033 | 0.000 | 0.000 | 0.000 | ||
| 5'-FR | −201 | C>T | 0.000 | 0.033 | 0.208 | 0.100 | rs2306744 | |
| 5'-UTR | −79 | C>G | 0.000 | 0.000 | 0.008 | 0.000 | ||
| 5'-UTR | −52 | G>A | 0.033 | 0.000 | 0.000 | 0.000 | * | |
| Exon 1 | 70 | A>G | Ile24Val | 0.033 | 0.000 | 0.000 | 0.000 | * |
| IVS 1 | 37 | G>C | 0.008 | 0.025 | 0.000 | 0.000 | rs9997790 | |
| IVS 2 | 81 | T>G | 0.000 | 0.008 | 0.000 | 0.000 | ||
| IVS 2 | 102 | C>T | 0.042 | 0.000 | 0.000 | 0.000 | * | |
| IVS 2 | 114 | A>G | 0.458 | 0.975 | 0.933 | 0.992 | rs6446988 | |
| IVS 2 | 179 | C>T | 0.008 | 0.000 | 0.000 | 0.000 | ||
| IVS 2 | 186 | A>T | 0.017 | 0.000 | 0.000 | 0.000 | ||
| Exon 3 | 273 | A>G | 0.000 | 0.000 | 0.000 | 0.008 | ||
| Exon 3 | 300 | C>T | 0.008 | 0.092 | 0.000 | 0.042 | rs11544786 | |
| Exon 3 | 356 | C>G | Ala119Gly | 0.033 | 0.000 | 0.000 | 0.000 | * |
| Exon 3 | 364 | C>T | Pro122Ser | 0.083 | 0.000 | 0.067 | 0.000 | * |
| IVS 3 | 53 | G>A | 0.008 | 0.042 | 0.000 | 0.025 | * | |
| IVS 3 | −113 | C>T | 0.000 | 0.000 | 0.025 | 0.000 | ||
| Exon 4 | 513 | A>G | 0.000 | 0.000 | 0.008 | 0.000 | ||
| IVS 5 | 33 | A>G | 0.000 | 0.000 | 0.000 | 0.008 | ||
| IVS 6 | 41 | A>T | 0.450 | 0.975 | 0.933 | 0.992 | rs1486271 | |
| IVS 6 | 137 | A>T | 0.000 | 0.042 | 0.000 | 0.025 | ||
| IVS 6 | 157 | T>G | 0.042 | 0.000 | 0.000 | 0.000 | ||
| 3’-UTR | 948 | C>T | 0.442 | 0.967 | 0.933 | 0.992 | rs4643786 | |
| 3’-UTR | 968 to 969 | C insertion | 0.033 | 0.000 | 0.000 | 0.000 | ||
| CMPK | ||||||||
|
Gene Location |
Nucleotide |
Sequence Change |
Amino Acid Change |
MAF |
HapMap and/or dbSNP |
|||
| AA | CA | HCA | MA | |||||
| 5'-FR | −3331 | C>G | 0.133 | 0.392 | 0.217 | 0.375 | rs12126139 | |
| 5'-FR | −3258 | A>C | 0.008 | 0.008 | 0.000 | 0.008 | ||
| 5'-FR | −3234 | T>C | 0.142 | 0.000 | 0.000 | 0.000 | rs3125637 | |
| 5'-FR | −3175 | G>C | 0.085 | 0.392 | 0.217 | 0.375 | rs12118514 | |
| 5'-FR | −3174 to −3173 | AG deletion | 0.233 | 0.000 | 0.000 | 0.000 | ||
| 5'-FR | −3138 | C>T | 0.000 | 0.000 | 0.067 | 0.000 | ||
| 5'-FR | −3076 | C>T | 0.000 | 0.008 | 0.000 | 0.000 | ||
| 5'-FR | −3010 | G>T | 0.200 | 0.383 | 0.033 | 0.108 | rs9725517 | |
| 5'-FR | −2916 | G>A | 0.000 | 0.008 | 0.000 | 0.000 | ||
| 5'-FR | −2835 | A>T | 0.042 | 0.000 | 0.000 | 0.000 | rs9436435 | |
| 5'-FR | −432 to -431 | GA deletion | 0.042 | 0.000 | 0.000 | 0.000 | ||
| 5'-FR | −299 | G>T | 0.017 | 0.000 | 0.000 | 0.000 | rs12097707 | |
| 5'-FR | −278 | G>A | 0.250 | 0.367 | 0.033 | 0.117 | ||
| 5'-FR | −229 | C>T | 0.008 | 0.000 | 0.000 | 0.000 | ||
| 5'-FR | −132 | T>C | 0.000 | 0.008 | 0.000 | 0.000 | ||
| 5'-UTR | −106 | G>C | 0.008 | 0.008 | 0.008 | 0.008 | ||
| 5'-UTR | −75 | C>G | 0.233 | 0.408 | 0.508 | 0.425 | rs7543016 | |
| IVS 1 | 15 | G>A | 0.000 | 0.000 | 0.000 | 0.017 | ||
| IVS 1 | −128 | A>G | 0.333 | 0.000 | 0.000 | 0.000 | rs12079592 | |
| IVS 1 | −3 | C>T | 0.017 | 0.000 | 0.000 | 0.000 | ||
| Exon 2 | 144 | G>T | Gln48His | 0.025 | 0.050 | 0.150 | 0.042 | rs35687416 |
| Exon 3 | 223 | G>A | Glu75Lys | 0.000 | 0.000 | 0.000 | 0.058 | |
| Exon 3 | 248 | A>G | Asn83Ser | 0.008 | 0.008 | 0.008 | 0.008 | |
| Exon 4 | 387 | A>G | 0.200 | 0.000 | 0.000 | 0.000 | rs6656779 | |
| IVS 4 | 95 | T>A | 0.000 | 0.000 | 0.000 | 0.008 | ||
| IVS 4 | 121 | C>T | 0.008 | 0.008 | 0.008 | 0.008 | ||
| IVS 4 | 153 | A>G | 0.000 | 0.000 | 0.000 | 0.008 | ||
| 3'-UTR | 605 | A>G | 0.150 | 0.000 | 0.000 | 0.008 | rs3125648 | |
Locations in the gene, nucleotide sequence alterations, amino acid sequence alterations, and minor allele frequencies (MAFs) of polymorphisms in the four populations studied are listed. If a polymorphism has been deposited in a public database (dbSNP or HapMap), an rs number is indicated. All other polymorphisms listed are unique to this study.
indicates polymorphisms also reported recently by Lamba et al. (2007). Polymorphisms within exons have been boxed. IVS is intervening sequence (intron). The numbering scheme for nucleotide positions is based on assignment of the (+1) position to the “A” in the translation initiation codon, with nucleotides 5′ to that position assigned negative, and those 3′ within the cDNA assigned positive numbers. Nucleotide positions in introns are numbered from the nearest splice site, with (+1) as the first nucleotide at the 5′-end, and (−1) as the first nucleotide at the 3′-end of the intron.
AA, African-American; CA, Caucasian-American; HCA, Han Chinese-American; MA, Mexican-American; FR, flanking region; UTR, untranslated region.