Table 3.
Rare Putative Functional Variants and Associated CYP2C9 Haplotypes
| Haplotype | Haplotype Countsa | Haplotype Frequency | rsID | Type of Mutation | Amino Acid | SIFT; Polyphen |
|---|---|---|---|---|---|---|
| Other rare haplotypes | ||||||
| CYP2C9*2 | 200/10/0 | 0.024 | rs1799853 | Nonsynonymous | p.Arg144Cys | Tolerated (0.05); probably damaging (0.986) |
| CYP2C9*11 | 1053/3/0 | 0.0014 | rs28371685 | Nonsynonymous | p.Arg335Trp | Tolerated (1); benign (0) |
| CYP2C9*14 | 204/6/0 | 0.014 | rs72558189 | Nonsynonymous | p.Arg125His | Deleterious (0.05); benign (0.445) |
| Novel haplotypes | ||||||
| CYP2C9*63 | 209/1/0 | 0.0024 | rs141489852 | Nonsynonymous | p.Arg144His | Deleterious (0.01); probably damaging (0.95) |
| CYP2C9*64 | 209/1/0 | 0.0024 | Novel (c.839C>G) | Nonsynonymous | p.Ser280Cys | Deleterious (0.01); possibly damaging (0.45) |
| CYP2C9*65 | 209/1/0 | 0.0024 | Novel (c.978G>T) | Nonsynonymous | p.Glu326Asp | Deleterious (0.01); probably damaging (0.998) |
| CYP2C9*66 | 209/1/0 and1054/2/0 | 0.0024 and 0.001 | rs578144976 | Nonsynonymous | p.Leu362Val | Tolerated (1); benign (0) |
| CYP2C9*67 | 209/1/0 | 0.0024 | rs4918758;rs776908257 | Upstream; non-synonymous | p.Arg433Trp | Deleterious (0.01); probably damaging (0.965) |
| CYP2C9*68 | 209/1/0 | 0.0024 | rs9332092; rs9332093; rs61604699; rs4918758; rs9332098; rs1057910; rs542577750; rs1057911 | Upstream (5); nonsynonymous; splice_donor; synonymous | p.Ile359Leu | Deleterious (0.02); benign (0.045) |
| CYP2C9*69 | 208/2/0 | 0.0048 | rs4918758; novel (c.572A>G) | Upstream; nonsynonymous | p.Asp191Gly | Deleterious (0.01); probably damaging (0.98) |
| CYP2C9*70 | 209/1/0 | 0.0024 | rs4918758; novel (c.1325G>T) | Upstream; nonsynonymous | p.Gly442Val | Deleterious (0.01); benign (0.003) |
Note: aMajor allele homozygous/heterozygous/minor allele homozygous.