Table 2.
Observed Sequence Variations of the TPMT Gene
| Exon | Nucleotide change | Amino acid change | Ref SNP number | Number of alleles | Observed frequency (%) | Name of allele (reference) |
|---|---|---|---|---|---|---|
| 2 | 30T>A | Ile10Ile | rs200780293 | 1 | 0.18 | |
| 3 | 233+35C>T | Intron | rs4449636 | 292 | 53.28 | |
| 3 | 219G>A | Ala73Ala | — | 1 | 0.18 | |
| 3 | 200T>C | p.Phe67Ser | Novel | 1 | 0.18 | *30 (Present study) |
| 4 | 366+58T>C | Intron | rs2518463 | 201 | 36.68 | |
| 4 | 399C>T | Cys133Cys | — | 2 | 0.36 | |
| 6 | 460G>A | Ala154Thr | rs1800460 | 18 | 3.28 | *3A (Tai et al., 1996) |
| 9 | 719A>G | Tyr240Cys | rs1142345 | 18 | 3.28 | |
| 6 | 474C>T | Ile158Ile | rs2842934 | 431 | 78.65 | |
| 7 | 495-1G>A | Splice site | rs9333570 | 1 | 0.18 | *15 (Lindqvist et al., 2004) |
| 8 | 595G>A | Val199Ile | Novel | 1 | 0.18 | *31 (Present study) |