Human DCK and CMPK haplotypes
Variant nucleotides compared with the “reference sequence” (i.e., the most common sequence in African-American subjects) are highlighted in boldface. Initial haplotype designations (*1, *2, etc.) were made on the basis of amino acids that vary, with the WT allozyme designated *1. Subsequent assignments/letter designations were made within ethnic groups based on descending allele frequencies, starting with haplotypes present in AA subjects. The *2, *3, and *4 designations for DCK were used for sequences that encoded Val24, Gly119, and Ser122, respectively. The combination of Val24/Ser122 and of Val24/Gly119/Ser122 were inferred, and these combinations were designated as *5 and *6, respectively. The symbols I and D in the 5′-FR (–698 to –697) and 3′-UTR (968–969) represent indels. The CMPK *2, *3, and *4 designations were used for sequences that encoded His48, Lys75, and Ser83, respectively. The symbols I and D in the 5′-FR (–3174 to –3173) and (–432 to –431) represent indels. Some inferred haplotypes with frequencies lower than 2% are included in the table because they included an amino acid change.
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DCK |
| Frequency | 5′-FR (-698) | 5′-FR (-289) | 5′-FR (-201) | Exon1 (70) | IVS1 (37) | IVS2 (102) | IVS2 (114) | Exon3 (300) | Exon3 (356) | Exon3 (364) | IVS3 (53) | IVS3 (-113) | IVS6 (41) | IVS6 (137) | IVS6 (157) | 3′-UTR (948) | 3′-UTR (968) |
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| AA | CA | HCA | MA |
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| O | *1A | 0.424 | 0.803 | 0.667 | 0.808 | I | T | C | A | G | C | G | C | C | C | G | C | T | A | T | T | D | ||||||
| O | *1B | 0.168 | 0.008a | D | T | C | A | G | C | A | C | C | C | G | C | A | A | T | C | D | ||||||||
| O | *1C | 0.150 | I | T | C | A | G | C | A | C | C | C | G | C | A | A | T | C | D | |||||||||
| I | *1D | 0.025 | I | T | C | A | G | C | A | C | C | C | G | C | A | A | G | C | D | |||||||||
| I | *1E | 0.023 | D | T | C | A | G | T | A | C | C | C | G | C | A | A | T | C | D | |||||||||
| O | *1F | 0.072 | I | T | C | A | G | C | G | T | C | C | G | C | T | A | T | T | D | |||||||||
| I | *1G | 0.037 | 0.025 | I | T | C | A | G | C | G | C | C | C | A | C | T | T | T | T | D | ||||||||
| O | *1H | 0.017a | 0.207 | 0.092 | D | T | T | A | G | C | G | C | C | C | G | C | T | A | T | T | D | |||||||
| O | *1I | 0.024 | I | T | C | A | G | C | G | C | C | C | G | T | T | A | T | T | D | |||||||||
| O | *1J | 0.042 | I | T | C | A | G | C | G | T | C | C | G | C | T | A | T | T | D | |||||||||
| I | *2 | 0.017 | I | T | C | G | G | C | A | C | C | C | G | C | A | A | T | C | D | |||||||||
| I | *3A | 0.008 | D | T | C | A | G | C | A | C | G | C | G | C | A | A | T | C | I | |||||||||
| I | *3B | 0.008 | D | T | C | A | G | C | G | C | G | C | G | C | A | A | T | C | I | |||||||||
| I | *3C | 0.008 | I | T | C | A | G | C | A | C | G | C | G | C | A | A | G | C | I | |||||||||
| I | *4A | 0.048 | 0.059 | I | T | C | A | G | C | A | C | C | T | G | C | A | A | T | C | D | ||||||||
| I | *4B | 0.008 | I | T | C | A | G | C | A | C | C | T | G | C | T | A | T | C | D | |||||||||
| I | *4C | 0.008 | I | T | C | A | C | C | A | C | C | T | G | C | A | A | T | C | D | |||||||||
| I | *4D | 0.002 | I | T | C | A | G | T | A | C | C | T | G | C | A | A | T | C | D | |||||||||
| I | *4E | 0.008 | I | A | C | A | G | C | A | C | C | T | G | C | A | A | T | C | D | |||||||||
| I | *5 | 0.008 | I | T | C | G | G | C | A | C | C | T | G | C | A | A | G | C | D | |||||||||
| I | *6 | 0.008 |
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| I | T | C |
G
| G | C |
A
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G
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T
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A
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C
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I
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CMPK
| Frequency | 5′-FR (-3331) | 5′-FR (-3258) | 5′-FR (-3234) | 5′-FR (-3175) | 5′-FR (-3174) | 5′-FR (-3138) | 5′-FR (-3010) | 5′-FR (-2835) | 5′-FR (-432) | 5′-FR (-278) | 5′-UTR (-106) | 5′-UTR (-75) | IVS1 (-128) | Exon2 (144) | Exon3 (223) | Exon3 (248) | Exon4 (387) | IVS4 (95) | IVS4 (121) | 3′-UTR (605) | |||||||
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| AA | CA | HCA | MA | ||||||||||||||||||||||||
| O | *1A | 0.182 | C | A | T | G | D | C | G | A | I | G | G | C | G | G | G | A | G | T | C | A | ||||||
| O | *1B | 0.136 | 0.367 | 0.033a | 0.083 | C | A | T | G | I | C | T | A | I | A | G | C | A | G | G | A | A | T | C | A | |||
| O | *1C | 0.124 | 0.192 | 0.440 | 0.458 | C | A | T | G | I | C | G | A | I | G | G | C | A | G | G | A | A | T | C | A | |||
| O | *1D | 0.087 | 0.008 | C | A | T | G | I | C | G | A | I | A | G | C | A | G | G | A | A | T | C | A | |||||
| I | *1E | 0.050 | C | A | C | G | I | C | G | A | I | G | G | C | A | G | G | A | A | T | C | G | ||||||
| I | *1F | 0.050 | C | A | C | G | I | C | G | A | I | G | G | C | G | G | G | A | A | T | C | A | ||||||
| O | *1G | 0.044 | C | A | T | G | I | C | G | A | I | G | G | C | A | G | G | A | A | T | C | G | ||||||
| O | *1H | 0.041a | 0.333 | 0.059 | 0.275 | G | A | T | C | I | C | G | A | I | G | G | G | A | G | G | A | A | T | C | A | |||
| I | *1I | 0.039 | C | A | T | G | I | C | T | A | I | G | G | G | A | G | G | A | A | T | C | A | ||||||
| I | *1J | 0.031 | G | A | T | G | I | C | G | A | D | G | G | G | A | G | G | A | A | T | C | A | ||||||
| I | *1K | 0.023 | C | A | C | G | I | C | G | T | I | G | G | C | A | G | G | A | A | T | C | G | ||||||
| O | *1L | 0.011a | 0.008a | 0.283 | 0.025a | C | A | T | G | I | C | G | A | I | G | G | G | A | G | G | A | A | T | C | A | |||
| I | *1M | 0.025 | G | A | T | C | I | T | G | A | I | G | G | G | A | G | G | A | A | T | C | A | ||||||
| O | *2A | 0.017a | 0.042a | 0.091 | 0.025 | G | A | T | C | I | C | G | A | I | G | G | G | A | T | G | A | A | T | C | A | |||
| I | *2B | 0.008 | 0.008 | 0.008 | G | C | T | C | I | C | G | A | I | G | G | G | A | T | G | A | A | T | C | A | ||||
| O | *2C | 0.041 | G | A | T | C | I | T | G | A | I | G | G | G | A | T | G | A | A | T | C | A | ||||||
| I | *2D | 0.018 | C | A | T | G | I | C | G | A | I | G | G | C | A | T | G | A | A | T | C | A | ||||||
| I | *2E | 0.008 | C | A | T | G | I | C | T | A | I | A | G | G | A | T | G | A | A | T | C | A | ||||||
| O | *3A | 0.050 | G | A | T | C | I | C | G | A | I | G | G | G | A | G | A | A | A | T | C | A | ||||||
| I | *3B | 0.008 | G | A | T | C | I | C | G | A | I | G | G | G | A | G | A | A | A | A | C | A | ||||||
| I | *4A | 0.008 | G | A | T | G | I | C | G | A | D | G | C | G | A | G | G | G | A | T | T | A | ||||||
| I | *4B | 0.008 | 0.008 | C | A | T | G | I | C | G | A | I | G | C | C | A | G | G | G | A | T | T | A | |||||
| I | *4C |
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| 0.008 |
| C | A | T | G |
I
| C | G | A | I | G |
C
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G
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A
| G | G |
G
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A
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T
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O, observed haplotype; I, inferred haplotype with frequency ≥2%; UTR, untranslated region.
↵ a Indicates inferred data.