Summary of genetic variations identified from hOCT1, hOCT2, and hOCT3 genes in Korean subjects
For nucleotide numbering the, A of the translation initiation codon ATG is denoted +1.
Genes & SNPs | Positions | Type of Change | Amino Acid | Functional Consequences | Nucleotide Change and Flanking Sequences(5′→3′) | Allele Frequency (%) |
|---|---|---|---|---|---|---|
| hOCT1 | ||||||
| -1795 G>A | 5′-UTR | N.D. | TGCCAAATGGCCA[G/A]TTGAATTCATGGAG | 59 | ||
| -1714 G>Aa | 5′-UTR | N.D. | GAGAGAAACCAAAA[G/A]TCTGACTGGTAAG | 2 | ||
| -1678 T>Aa | 5′-UTR | N.D. | ACCCTTTCGCCAGCA[T/A]GTCAGGCTGCTGA | 2 | ||
| -206 G>Aa | 5′-UTR | N.D. | AAACGATTTGATCA[G/A]ATGGCCACGTGCA | 9 | ||
| -129 G>Aa | 5′-UTR | N.D. | TTGGTTGCCTTCCA[G/A]ATGTTTCACACTTG | 13 | ||
| 156 T>C | Exon 1 | Synonymous | S52S | N.D. | CACCACTGCCAGAG[T/C]CCTGGGGTGGCTG | 35 |
| 480 C>G | Exon 2 | Nonsynonymous | F160L | No changeb,c | AATGCGGGCTTCTT[C/G]TTTGGCTCTCTCGG | 13 |
| 848 C>T | Exon 5 | Nonsynonymous | P283L | Decreased | CTACTGGTGTGTGC[C/T]GGAGTCCCCTCGG | 2 |
| E5 + 45 G>Aa | Intron | Noncoding | - | N.D. | CTGAATCTGGGGCT[G/A]GGTTCTGGTGCAG | 18 |
| 1022 C>T | Exon 6 | Nonsynonymous | P341L | Decreased | CCTGTTCCGCACGC[C/T]GCGCCTGAGGAAG | 16 |
| 1222 A>G | Exon 7 | Nonsynonymous | M408V | No changeb,c | TCTACCCCATGGCC[A/G]TGTCAAATTTGTTG | 74 |
| hOCT2 | ||||||
| -1733 A>Ga | 5′-UTR | N.D. | CGCAGTGGAGGTCA[A/G]TGGATGTCCTTGC | 1 | ||
| -1629 A>Ga | 5′-UTR | N.D. | CTCCTTTTAGACTAC[A/G]CTATTACACCTGC | 1 | ||
| -1604 T>Ca | 5′-UTR | N.D. | TGCTGACTATCCAA[T/C]AGAAAAAAGAAGG | 7 | ||
| -1525 A>Ga | 5′-UTR | N.D. | AGGCCACCTTCTCT[A/G]CTTGGCAGGATCAC | 48 | ||
| 390 G>T | Exon 1 | Synonymous | T130T | N.D. | TGGGTGTACGAGAC[G/T]CCTGGCTCGTCCA | 15 |
| E2 + 32 C>G | Intron | Noncoding | N.D. | TGGTGGAATTTAAA[C/G]AATCCCAAAGGTTT | 87 | |
| 596 C>T | Exon 3 | Nonsynonymous | T199I | Decreasee | TGCCATTTCCCCAA[C/T]CTATACGTGGATGT | 1 |
| 602 C>T | Exon 3 | Nonsynonymous | T201M | Decreasee | TTTCCCCAACCTATA[C/T]GTGGATGTTAATT | 2 |
| 808 G>T | Exon 4 | Nonsynonymous | A270S | Decreasee,f,g | TGCAGTTCACAGTT[G/T]CTCTGCCCAACTTC | 14 |
| 1506 G>A | Exon 10 | Synonymous | V502V | N.D. | TTTGGCTTTCAGGC[G/A]TGCTTGGCTTGGTT | 85 |
| hOCT3 | ||||||
| -2269 C>Ta | 5′-UTR | N.D. | AACCCTGAGGGGAG[C/T]CCAAGGCAATCAC | 27 | ||
| -1603 G>Aa | 5′-UTR | N.D. | TTCTGGGTAAGGG[G/A]CAGGTTCTTCTGTGG | 25 | ||
| -1547 T>Ga | 5′-UTR | N.D. | CAAGGTAGAACAG[T/G]TGATTTCTTTATGGC | 25 | ||
| -29 A>G | 5′-UTR | N.D. | ACTCCGAGGCGCG[A/G]GCTGCGGGCGGCGG | 68 | ||
| 360 T>C | Exon 1 | Synonymous | R120R | N.D. | CCTTCCCCAACCG[T/C]TCGGCTCCCCTTGTG | 73 |
| 579 C>Ta | Exon 3 | Synonymous | G193G | N.D. | GCCTTGGTGTTGG[C/T]GTCACTGGGGTTGTG | 2 |
| E5 + 18 T>Aa | Intron | Noncoding | N.D. | GAGGTAATTTCTT[T/A]CAGTATGAGTAACAA | 1 | |
| 1233 G>A | Exon 7 | Synonymous | A411A | N.D. | CGCCTCCCCTTTGC[G/A]GCAAGCAATATAGT | 50 |