Cyp3A5 nucleotide sequence variations observed in white Canadians and in Zimbabweans
Variant nucleotides are in bold. Genomic positions are based on GenBank sequence AC005020.
Location | Allele | Nucleotide Substitution | Genomic Position | Observed in (Frequency %) | Amino Acid Change | Reference Citation | ||
|---|---|---|---|---|---|---|---|---|
| Promoter | Cyp3A5*1C | C/T | 15,839 | White (4.6) | Kuehl et al. (2001); Hustert et al. (2001) | |||
| Promoter | G/A | 15,588 | White (0.7) | New | ||||
| Promoter | G/A | 15,660 | White (0.5) | New | ||||
| Intron 3 | Cyp3A5*3 | A/G | 22,893 | Afr. (77.6) | Splicing defect | Kuehl et al. (2001); Hustert et al. (2001) | ||
| White (92.9) | ||||||||
| Intron 3 | C/T | 23,114 | Afr. (6.0) | New | ||||
| Exon 7 | Codon 208 | Cyp3A5*6 | G/A | 30,597 | Afr. (22.0) | Splicing defect | Kuehl et al. (2001); Hustert et al. (2001) | |
| Exon 7 | Codon 218 | A/G | 30,627 | Afr. (2.0) | None (Pro) | New | ||
| Exon 8 | Codon 238 | T/C | 31,756 | Afr. (1.0) | Val →Ala | New | ||
| Intron 8 | C/T | 32,867 | Afr. (1.0) | New | ||||
| Exon 10 | Codon 295 | C/T | 35,171 | Afr. (1.0) | None (Leu) | New | ||
| Exon 10 | Codon 309 | C/A | 35,210 | White (1.0) | Thr→Asn | New | ||
| Exon 10 | Codon 323 | C/A | 35,252 | White (1.0) | Thr→Asn | New | ||
| Intron 10 | A/G | 42,957 | White (4.0) | Hustert et al. (2001) | ||||
| Exon 11 | Codon 346 | Cyp3A5*7 | Ins T | 43,039 | Afr. (10.0) | Frameshift | Hustert et al. (2001) | |
| Exon 11 | Codon 349 | C/T | 43,050 | Afr. (1.0) | None (Ala) | New | ||
| Exon 11 | Codon 371 | A/G | 43,114 | White (1.0) | Ile→Val | New | ||
| Exon 11 | Codon 398 | Cyp3A5*2 | C/A | 43,196 | White (0.7) | Thr→Asn | Hustert et al. (2001) | |
| Exon 12 | Codon 460 | C/T | 45,701 | Afr. (1.0) | Gln→Stop | New | ||
| Intron 12 | T/C | 47,406 | Afr. (3.0) | New | ||||
| 3′-Untranslated region | SNP 31611 | T/C | 47,518 | Afr. (60.0) | Hustert et al. (2001) | |||
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| White (8.6) |
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Afr., African (Zimbabwean); White, white Canadian.