Table 1.
Human PSMB1, PSMB2, and PSMB5 genetic polymorphisms
| Location | Nucleotide | Sequence change | Amino acid change | Frequency of variant allele |
||||
|---|---|---|---|---|---|---|---|---|
| African American | Caucasian American | Han Chinese American | Mexican American | |||||
| PSMB1 | ||||||||
| 5′-FR | -1199 | A→G | 0.017 | 0.000 | 0.000 | 0.000 | ||
| 5′-FR | -1043 | A→G | 0.133 | 0.308 | 0.767 | 0.342 | ||
| 5′-FR | -933 | C→G | 0.008 | 0.000 | 0.000 | 0.000 | ||
| 5′-FR | -779 | A→C | 0.000 | 0.017 | 0.000 | 0.000 | ||
| 5′-FR | -767 to -769 | GAT deletion | 0.000 | 0.008 | 0.000 | 0.008 | ||
| 5′-FR | -696 | G→T | 0.000 | 0.000 | 0.008 | 0.000 | ||
| 5′-FR | -695 | C→T | 0.000 | 0.000 | 0.000 | 0.008 | ||
| 5′-FR | -621 | A→C | 0.008 | 0.000 | 0.000 | 0.000 | ||
| 5′-FR | -573 | G→A | 0.017 | 0.000 | 0.000 | 0.000 | ||
| 5′-FR | -213 | A→C | 0.008 | 0.000 | 0.000 | 0.000 | ||
| 5′-FR | -192 | G→C | 0.000 | 0.000 | 0.000 | 0.008 | ||
| 5′-FR | -126 | C→A | 0.008 | 0.050 | 0.000 | 0.042 | ||
| 5′-FR | -62 | C→T | 0.008 | 0.000 | 0.000 | 0.000 | ||
| 5′-UTR | -6 | C→T | 0.100 | 0.025 | 0.008 | 0.042 | ||
| Exon 1 | 31 | C→G | Pro11Ala | 0.300 | 0.383 | 0.800 | 0.417 | |
| Exon 1 | 73 | C→T | Pro25Ser | 0.000 | 0.000 | 0.008 | 0.000 | |
| Intron 1 | -27 | G→A | 0.000 | 0.033 | 0.000 | 0.025 | ||
| Intron 2 | 49 | A→G | 0.233 | 0.550 | 0.200 | 0.475 | ||
| Intron 3 | 15 | A→G | 0.008 | 0.042 | 0.000 | 0.042 | ||
| Intron 3 | 23 | A→G | 0.000 | 0.000 | 0.000 | 0.008 | ||
| Intron 4 | 35 | Deletion of G | 0.208 | 0.000 | 0.000 | 0.017 | ||
| Intron 4 | 128 | T→C | 0.042 | 0.167 | 0.008 | 0.308 | ||
| Intron 4 | 136 | A→G | 0.000 | 0.000 | 0.000 | 0.008 | ||
| Intron 4 | 154 | A→G | 0.133 | 0.000 | 0.000 | 0.008 | ||
| Intron 4 | -30 | A→G | 0.000 | 0.000 | 0.017 | 0.000 | ||
| 3′-FR | 862 | C→A | 0.008 | 0.000 | 0.000 | 0.000 | ||
| PSMB2 | ||||||||
| 5′-FR | -1041 | A→G | 0.033 | 0.000 | 0.000 | 0.000 | ||
| 5′-FR | -976 to -975 | Deletion of TA | 0.033 | 0.000 | 0.000 | 0.000 | ||
| 5′-FR | -859 | T→G | 0.000 | 0.008 | 0.000 | 0.000 | ||
| 5′-FR | -826 | (TC)n | ||||||
| n = 2 | 0.782 | 1.000 | 0.917 | 0.967 | ||||
| n = 3 | 0.182 | 0.000 | 0.083 | 0.017 | ||||
| n = 4 | 0.036 | 0.000 | 0.000 | 0.000 | ||||
| 5′-FR | -716 | A→G | 0.125 | 0.000 | 0.008 | 0.017 | ||
| 5′-FR | -707 to -706 | Deletion of CT | 0.092 | 0.000 | 0.017 | 0.008 | ||
| 5′-FR | -555 | G→A | 0.000 | 0.008 | 0.000 | 0.000 | ||
| 5′-FR | -477 | G→T | 0.192 | 0.917 | 0.208 | 0.492 | ||
| 5′-FR | -425 | G→A | 0.117 | 0.000 | 0.000 | 0.017 | ||
| 5′-FR | -405 | T→C | 0.000 | 0.008 | 0.000 | 0.000 | ||
| 5′-FR | -381 | G→C | 0.000 | 0.000 | 0.008 | 0.000 | ||
| 5′-FR | -224 | G→A | 0.008 | 0.000 | 0.000 | 0.000 | ||
| 5′-FR | -197 | C→A | 0.033 | 0.000 | 0.000 | 0.000 | ||
| 5′-FR | -146 | Deletion of A | 0.025 | 0.000 | 0.000 | 0.000 | ||
| 5′-UTR | -109 | Deletion of T | 0.017 | 0.000 | 0.000 | 0.000 | ||
| Intron 1 | 20 | G→T | 0.008 | 0.000 | 0.000 | 0.000 | ||
| Intron 1 | 43 | G→C | 0.008 | 0.000 | 0.000 | 0.000 | ||
| Intron 1 | -27 | T→C | 0.008 | 0.000 | 0.000 | 0.000 | ||
| Exon 2 | 133 | C→T | 0.000 | 0.000 | 0.008 | 0.000 | ||
| Intron 2 | 57 | A→C | 0.008 | 0.000 | 0.000 | 0.000 | ||
| Intron 2 | 123 | C→G | 0.000 | 0.000 | 0.000 | 0.008 | ||
| Intron 2 | 145 | G→A | 0.000 | 0.008 | 0.000 | 0.008 | ||
| Intron 3 | 6 | T→G | 0.000 | 0.000 | 0.000 | 0.017 | ||
| Intron 3 | 7446 | A→G | 0.000 | 0.000 | 0.000 | 0.008 | ||
| Intron 3 | 7763 to 7766 | Deletion of CAGA | 0.008 | 0.000 | 0.000 | 0.000 | ||
| Intron 3 | 7772 | C→G | 0.092 | 0.000 | 0.017 | 0.008 | ||
| Intron 3 | 7776 | C→T | 0.092 | 0.000 | 0.017 | 0.008 | ||
| Intron 3 | 7937 | T→C | 0.092 | 0.000 | 0.017 | 0.008 | ||
| Intron 3 | -68 | C→T | 0.017 | 0.000 | 0.000 | 0.000 | ||
| Intron 3 | -30 | T→C | 0.008 | 0.000 | 0.000 | 0.000 | ||
| Intron 4 | 30 | Deletion of G | 0.017 | 0.000 | 0.000 | 0.000 | ||
| Intron 4 | 65 | T→C | 0.058 | 0.000 | 0.000 | 0.000 | ||
| Intron 4 | 72 | T→C | 0.125 | 0.000 | 0.017 | 0.008 | ||
| Intron 4 | 93 | G→A | 0.117 | 0.000 | 0.008 | 0.017 | ||
| Intron 4 | -26 | T→C | 0.000 | 0.025 | 0.000 | 0.008 | ||
| 3′-UTR | 611 | A→G | 0.092 | 0.000 | 0.017 | 0.008 | ||
| 3′-UTR | 641 | T→C | 0.033 | 0.000 | 0.000 | 0.000 | ||
| 3′-UTR | 683 | G→A | 0.000 | 0.000 | 0.008 | 0.000 | ||
| 3′-UTR | 684 | C→T | 0.092 | 0.000 | 0.017 | 0.008 | ||
| 3′-FR | 758 | T→C | 0.008 | 0.000 | 0.000 | 0.000 | ||
| Location | Nucleotide | Sequence change | Amino acid change |
Frequency of variant allele |
||||
| African American | Caucasian American | Han Chinese American | Mexican American | Multiple myeloma samples | ||||
| PSMB5 | ||||||||
| 5′-FR | -693 | C→T | 0.117 | 0.658 | 0.825 | 0.717 | 0.538 | |
| 5′-FR | -534 | G→A | 0.067 | 0.000 | 0.000 | 0.000 | 0.013 | |
| 5′-FR | -438 | G→A | 0.008 | 0.000 | 0.000 | 0.000 | 0.000 | |
| 5′-FR | -384 | T→C | 0.000 | 0.000 | 0.000 | 0.000 | 0.000 | |
| 5-FR | -310 | T→C | 0.158 | 0.000 | 0.000 | 0.000 | 0.013 | |
| 5′-FR | -187 | C→G | 0.008 | 0.000 | 0.000 | 0.000 | 0.000 | |
| 5′-FR | -178 to -177 | Insertion of C | 0.000 | 0.000 | 0.042 | 0.000 | 0.000 | |
| 5′-FR | -57 | G→T | 0.000 | 0.000 | 0.000 | 0.008 | 0.000 | |
| Exon 1 | 70 | C→T | Arg24Cys | 0.025 | 0.083 | 0.000 | 0.017 | 0.114 |
| Intron 1 | 230 | A→T | 0.000 | 0.008 | 0.000 | 0.000 | 0.000 | |
| Intron 1 | 269 | G→T | 0.000 | 0.000 | 0.008 | 0.000 | 0.000 | |
| Intron 1 | 331 | C→G | 0.000 | 0.008 | 0.000 | 0.000 | 0.000 | |
| Exon 3 | 588 | G→C | 0.000 | 0.000 | 0.008 | 0.000 | 0.000 | |
| Exon 3 | 635 | A→G | Tyr212Cys | 0.000 | 0.000 | 0.000 | 0.008 | 0.000 |
| Exon 3 | 712 | G→A | Val238Met | 0.000 | 0.000 | 0.008 | 0.000 | 0.000 |
| 3′-UTR | 821 | C→T | 0.008 | 0.000 | 0.000 | 0.000 | 0.000 | |
| 3′-UTR | 847 | G→A | 0.075 | 0.000 | 0.000 | 0.000 | 0.013 | |
| 3′-UTR | 938 to 939 | AT deletion | 0.000 | 0.000 | 0.008 | 0.000 | 0.000 | |
| 3′-FR | 1042 | G→A | 0.200 | 0.683 | 0.932 | 0.792 | 0.608 | |
| 3′-FR | 1094 | G→A | 0.000 | 0.000 | 0.000 | 0.000 | 0.006 | |
| 3′-FR | 1103 | G→A | 0.175 | 0.533 | 0.825 | 0.700 | 0.487 | |
| 3′-FR | 1209 | Insertion of GAGAAGGAGAGAGAGGC | 0.000 | 0.000 | 0.000 | 0.000 | 0.013 | |
| 3′-FR | 1131 to 1133 | AGT deletion | 0.008 | 0.025 | 0.000 | 0.000 | 0.000 | |
NOTE: Polymorphism locations, alterations in nucleotide and amino acid sequences, and minor allele frequencies for the polymorphisms observed during the gene resequencing studies are listed for each of the four ethnic groups studied. The least common allele in African American samples has been designated as the minor allele. Polymorphisms identified in the PSMB5 gene in multiple myeloma patient samples were also listed. The table also indicates whether the polymorphism is represented in dbSNP. Highlighted and bold-faced SNPs are found in dbSNP. Polymorphisms in exons and UTRs and FRs have been numbered with respect to the “A” in the “ATG” translation initiation codon, with positive numbers located 3- and negative numbers 5- to that position. Nucleotides located within introns are numbered based on their distance from splice junctions, using negative or positive numbers, respectively, for distance to 5′- and 3′-splice sites.